Biology Dot Point Summary

HSC BIOLOGY
HSC BIOLOGY
DOT POINT SUMMARIES DOT POINT SUMMARIES
CaIIum Barnes 2010 - 1 - HSC BioIogy Dot Point Summaries
CONTENTS CONTENTS
9.2 9.2 Maintaining A Balance Maintaining A Balance
9.2.1 . 3
9.2.2 . 10
9.2.3 . 16
9.3 9.3 The Blueprint oI LiIe The Blueprint oI LiIe
9.3.1 . 22
9.3.2 . 28
9.3.3 . 34
9.3.4 . 42
9.3.5 . 49
9.4 9.4 The Search Ior Better Health The Search Ior Better Health
9.4.1 . 52
9.4.2 . 52
9.4.3 . 55
9.4.4 . 61
9.4.5 . 63
9.4.6 . 65
9.4.7 . 68
A Semi-Comprehensive Guide To Blood Cells & The Immune Svstem . A Semi-Comprehensive Guide To Blood Cells & The Immune Svstem . 72 72
9.7 9.7 Genetics: The Code Broken? Genetics: The Code Broken?
9.7.1 . 74
9.7.2 . 74
9.7.3 . 79
9.7.4 . 82
9.7.5 . 83
9.7.6 . 84
9.7.7 . 87
9.7.8 . 88
9.2 9.2 Maintaining A Balance Maintaining A Balance
9.2.1 Most organisms are active in a limited temperature range
9.2.1.1 IdentiIy the role oI enzymes in metabolism, describe their chemical composition and use a
simple model to describe their speciIicity on substrates
Enzymes are needed to make respiration happen Iast enough Ior biological processes to occur.
Enzymes control all metabolic processes.
Usually named aIter their substrate 'ase' suIIix
All enzymes are proteins.
All enzymes are speciIic that is, each enzyme will only Iit one substrate
The activity oI enzymes depends upon their environment, abnormal conditions results in little, iI
any activity. They are biological catalysts.
Two models 'lock and key' or 'induced Iit'
Heat may irreversibly damage an enzyme.
A denatured enzyme will still be inactive when returned to regular conditions.
9.2.1.2 IdentiIy the pH as a way oI describing the acidity oI a substance
pH is a way oI describing acidity, it is a measure oI the H ions in a solution.
pH variations will change the eIIiciency oI an enzyme, large variations result in irreversible damage.
9.2.1.3 Explain why the maintenance oI a constant internal environment is important Ior optimal
metabolic eIIiciency
HOMEOSTASIS Keeping the internal environment oI the body within certain limits to allow liIe to
continue as eIIiciently as possible.
Consists oI two stages 1. Detecting Changes
2. Counteracting Changes
Factors aIIecting enzyme eIIiciency:
Temperature
pH
Substrate concentration
Presence oI salts, toxins, vitamins
Advantages oI homeostasis:
Survival value body is able to Iunction and adapt with changes to the outside
temperature/conditions
coordinates the surroundings oI cells as best it can to maintain the internal environment in order to
allow processes within cells to take place eIIiciently
Controlled by nervous svstem and endocrine svstem
9.2.1.4 Describe homeostasis as the process by which organisms maintain a relatively stable
internal environment
Homeostasis: 'the process bv which the internal environment is kept within normal limits, regardless of
the external environmental conditions.`

These conditions include: temperature, pH, gas levels, water and salt concentrations.
Homeostasis allows the organism's enzymes to operate eIIiciently and thereIore allow important bodily
processes to continue uninterrupted.
9.2.1.5 Explain that homeostasis consists oI two stages:
detecting changes Irom the stable state
counteracting changes Irom the stable state
9.2.1.S2 Gather, process and analyse inIormation Irom secondary sources and use available evidence
to develop a model oI a Ieedback mechanism
Endocrine system:
Pancreas regulates blood sugar levels
Hypothalamus is the control centre oI temp & water regulation
Components oI a homeostatic system:
Receptor
Control Centre
EIIector
Feedback to ensure the body doesn't overcompensate to changes
Two interrelated stages used to maintain conditions: detection and counteraction
Changes which are brought about are monitored and Ied back into the control system. This is called
feedback. Because the response counteracts the change that has happened, it is called negative feedback.
Some diIIerent conditions which must be kept constant include:
blood pH blood pressure
blood glucose temperature
dissolved gases in blood water content oI tissue Iluids
Each oI these can be altered by:
heart rate urine Iormation
breathing rate blood Ilow
hormone levels
Water balance:
A hormone called anti-diuretic hormone (ADH) is produced in the hypothalamus, but stored in the
pituitary gland. ADH causes the kidneys to increase water reabsorption.
Pancreas:
Pancreas acts as a sensor, control centre and eIIector in regulating blood glucose.
EXAMPLE HOMEOSTASIS DIAGRAM -
GLUCOSE LEVELS FEEDBACK MECHANISM
9.2.1.6 Outline the role oI the nervous system in detecting and responding to environmental
changes
When changes are made, sensors in the body detect the change and send a nervous impulse to the brain
(usually hypothalamus). Hypothalamus passes inIormation to eIIector neurons, changes are made.
9.2.1.7 IdentiIy the broad range oI temperatures over which liIe is Iound compared with the
narrow limits Ior individual species
LiIe, in some Iorm, can be Iound at extremes ranging Irom - 40
o
C to 120
o
C (archaebacteria). However,
the great majority oI living organisms are Iound in the - 2
o
C to 40
o
C range and Ior each individual
species the range is even narrower.
Below 0
o
C, cells risk ice crystals Iorming in them and above 45
o
C, proteins within cells may denature.
e.g Humans core body temperature is approximately 37
o
C, Iluctuations Irom this, however minor, Ior
extended periods oI time can have drastic consequences.
9.2.1.8 Compare responses oI named Australian ectothermic and endothermic organisms to
changes in the ambient temperature and explain how these responses assist temperature
regulation
9.2.1.S3 Analyse inIormation Irom secondary sources to describe adaptations and responses that have
occurred in Australian organisms to assist temperature regulation
ECTOTHERM: Vernacular claims they are 'cold blooded' incorrect. Their blood is not actually cold
they simply cannot regulate their body temperature. It must be regulated by their surroundings.
ENDOTHERM: 'warm blooded'. True but not a distinguishing Iactor. Endotherms can regulate their
internal temperature. Get body heat Irom cell metabolism.
ADAPTATIONS:
Behavioural - The things the organism does to survive i.e How it behaves!
Structural - A physical Ieature the organism has developed to help it survive e.g kangaroos
blood vessels are close to the surIace oI the skin on their arms, so that when they lick their arms
Normal
Blood Sugar
Higher than
normal levels
of glucose
nsulin
released
Glucose taken
up in form of
glycogen
Blood
glucose
decreases
Lower than
normal levels
of glucose
Glucagon
released
Liver breaks down
glycogen into
glucagon
Blood
glucose
increases
the blood is cooled as it goes around the body
Physiological - physical or chemical activities that occur in cells and tissues oI a species which
results in it being better suited to its environment e,g blackbutt tree secretes chemicals
(antibiosis) which prevents other trees Irom growing near it
EXAMPLE A
Organism: Magnetic Termites Ectotherm
Behavioural response Pack the walls oI their mound with insulating wood and pulp to keep heat in.
They Iace their mounds Irom north to south to minimise exposure to the sun in the heat oI the day and to
maximise it in the cooler morning/aIternoon sun.
EXAMPLE B
Organism: Bearded Dragon Ectotherm
Behavioural adaptation Incredible climbing abilities to get up into the sun, allows it to move out oI
shadows and bask in the sunlight to warm its body.
EXAMPLE C
Organism: Red Kangaroo Endotherm
Can increase it's body temp by 'shivering' or decrease it by resting. Also licks its Iorearms and palms as
blood vessels are close to the surIace, eIIectively cooling the blood as it travels around the body.
EXAMPLE D
Organism: Bilby Endotherm
Hair stands on end (same as any mammal with Iur), acts as an insulator to keep the body warm (hairs
standing on end trap warm air).
9.2.1.9 IdentiIy some responses oI plants to temperature change
As temperature extremes can damage enzyme structures or properties, and plants have important
enzymes involved in photosynthesis and respiration, extremes oI temperature can be a major problem.
Eucalypts have vertically hanging leaves to minimise exposure to the sun in the heat oI the day. Other
plants drop their leaves iI the temperature becomes too cold, in order to save as much energy as possible.
Casuarina trees have very thin leaves and sunken stomates to avoid high temperatures by reducing water
loss.
9.2.1.S1 IdentiIy data sources, plan, choose equipment or resources and perIorm a Iirst-hand
investigation to test the eIIect oI:
increased temperature
change in pH
change in substrate concentrations on the activity oI named enzyme(s)
Experiment 1: Experiment 1: Effect of Substrate Concentration on Enzyme Activity Effect of Substrate Concentration on Enzyme Activity
AIM: To investigate the eIIect oI hydrogen peroxide (substrate) concentration on the reaction rate oI a
catalase enzyme.
METHOD:
1. Set up 7 test tubes, labeled 1 7
2. Pipette the volumes oI water and DI H2O into each pipette, as outlined in the table below
3. Add 2 drops oI detergent to each test tube and thoroughly mix the contents oI each
4. Prepare 6 cylinders oI potato 10mm long and place one in each test tube, except number 7
5. AIter 5 minutes, measure the height oI the O2 bubbles Iormed
6. Record data in table and graph height vs. concentration
7. Tube 7 is a control
Test Tube 1 2 3 4 5 6 7
mL H2O2 0 2 4 6 8 10 10
mL H2O 10 8 6 4 2 0 0
RESULTS:
Test Tube Substr Conc. (v/v) Height of Froth (mm)
1 0 0
2 20 7
3 40 17
4 60 24
5 80 21
6 100 15
7 100 0
0 20 40 60 80 100
0
5
10
15
20
25
30
[Substrate]
H
e
i
g
h
t

o
f

F
r
o
t
h
Experiment 2: Experiment 2: Effect of pH on Enzyme Activity Effect of pH on Enzyme Activity
AIM: To investigate the eIIect oI pH on the activity oI the enzyme amylase
METHOD:
1. Set up 10 test tubes, labelled 15 and 1C5C
2. Add the substances listed in the table below to each test tube
3. The Iodine will stain the starch solution purple except in 5/5c
4. Cover the tubes with a sheet oI plastic to keep insects out and leave Ior 30 minutes
5. Record any changes in colour (0 is no change, compare 1 with 1C as the 'c tubes are controls)
6. For 5/5c record any change in transparency/clarity
Test Tube
Amount of
Starch
pH Adjusting
Solution
pH
Amount of
Iodine
Amount of
Enzyme
1 1 mL 1mL 0.1M HCl 2 2 drops 1 drop
1c 1 mL 1mL 0.1M HCl 2 2 drops none
2 1 mL 1mL 0.1M CH3COOH 4 2 drops 1 drop
2c 1 mL 1mL 0.1M CH3COOH 4 2 drops none
3 1 mL 1mL H2O 7 2 drops 1 drop
3c 1 mL 1mL H2O 7 2 drops none
4 1 mL 1mL 0.1M NH3 9 2 drops 1 drop
4c 1 mL 1mL 0.1M NH3 9 2 drops none
5 1 mL 1mL 0.1M NaOH 12 2 drops 1 drop
5c 1 mL 1mL 0.1M NaOH 12 2 drops none
RESULTS:
Test Tube pH Change
1 2 0
2 4 0
3 7 3
4 9 4
5 12 2
2 4 7 9 12
0
1
2
3
4
5
pH
C
h
a
n
g
e
Experiment 3: Experiment 3: Effect of 1emperature on Enzyme Activity Effect of 1emperature on Enzyme Activity
AIM: To Iind the optimal operating temperature Ior the enzyme rennin
METHOD:
1. Prepare water baths oI 5, 20, 30, 40, 50 and 80C
2. Pipette 3 mL oI milk onto 12 test tubes, labelling them 1A7A and 1B7B
3. For each bath, add two tubes (e.g 1A and 1B into the Iirst one), allow time Ior the contents oI both
tubes to come to the temperature oI the water bath
4. Crush a junket tablet in 10 mL oI water (this contains the rennin enzyme)
5. Add 3 drops oI junket solution to each test tube A (i.e 1A not 1B) (B acts as a control)
6. Examine the tubes every Iew minutes and record time taken Ior the milk to clot
7. Record the clotting time and activity ('1 / clotting time) in a table, iI no clotting occur put a in
the table and graph results
RESULTS:
Temp
(C)
Activity Clotting Time (mins)
5 0.000 --
20 0.000 --
30 0.000 --
40 0.167 6
50 0.250 4
80 0.000 --
No activitv was recorded when the temperature was EITHER too low (5, 20, 30)
or too high (80), because at low temperatures the reaction could not happen fast enough in
the given time and at high temperatures the en:vme denatured. In Experiment 1 the graph is supposed to
plateau out, not peak.
Each of these pracs were also done with computer programs,

producing much more accurate and reliable results.
5 20 30 40 50 80
0
0.05
0.1
0.15
0.2
0.25
0.3
Temperature
A
c
t
i
v
i
t
y
9.2.2 Plants and animals transport dissolved nutrients and gases in a fluid medium
9.2.2.1 IdentiIy the Iorm(s) in which each oI the Iollowing is carried in mammalian blood:
carbon dioxide
oxygen
water
salts
lipids
nitrogenous waste
other products oI digestion
SUBSTANCE FORM CARRIED BY
Oxygen Oxyhaemoglobin Red blood cells
Carbon Dioxide Hydrogen carbonate ions Red blood cells and plasma
Nitrogenous Waste Mostly as urea Plasma
Water Water molecules Plasma
Salts Ions in blood plasma Plasma
Other digestive products Separate molecules e.g glucose Plasma
Lipids Wrapped in proteins Plasma
9.2.2.2 Explain the adaptive advantage oI haemoglobin
Because oxygen can bind to haemoglobin molecules, oxygen can be delivered to cells more eIIiciently
then it can in cells without haemoglobin. Also means blood can carry more oxygen than iI it was dissolved
in the plasma. Hb Ireely releases O2.
9.2.2.3 Compare the structure oI arteries, capillaries and veins in relation to their Iunction
ARTERIES - Thick muscular walls, no valves. Carry oxygenated blood away from heart.
Pumped, under high pressure.
VEINS - Thin walls, have one way valves. Carry deoxygenated blood back to heart. Blood
is pushed, not pumped.
CAPILLARIES - One cell thick, allows diIIusion oI materials through walls
9.2.2.4 Describe the main changes in the chemical composition oI the blood as it moves around the
body and identiIy tissues in which these changes occur
LOCATION OF BLOOD O2 AND CO2 VALUES pH
Leaving lungs 100/40 Normal
Capillaries entering tissues 95/40 Acidic
Capillaries leaving tissues 40/45 Acidic
Capillaries entering lungs 40/45 Acidic
Blood is normal pH when oxygen is taken up in the lungs, containing a high oxygen concentration. As it
leaves the lungs and starts going round the body it begins to lose oxygen, when it diIIuses out oI the cells
aIter they've been 'used' the oxygen concentration is very low by comparison, with carbon dioxide
remaining near steady the entire time. The blood then returns to the lungs to start over again.
LUNGS O2 received, CO2 expelled
TISSUES CO2 received, O2 released
STOMACH Water & alcohol passes into blood
SM. INTEST. Amino acids/glucose diIIuse in
LIVER Liver removes glucose, excess amino acids, poisonous substances, adds glucose is sugars
levels are low
LGE INTEST. Water, salts, vitamins absorbed
KIDNEY Excess water, salts removed
ENDOCRINE GLANDS hormones added
9.2.2.5 Outline the need Ior oxygen in living cells and explain why removal oI carbon dioxide Irom
cells is essential
Oxygen is required because lack oI oxygen results in death oI the cell and consequently shutting down
oI body systems. Respiration requires oxygen and releases carbon dioxide.
It is important to remove carbon dioxide in order to maintain a normal pH in the blood. Excess CO2
causes increased breathing rate and depth.
9.2.2.6 Describe current theories about processes responsible Ior the movement oI materials
through plants in xylem and phloem tissue
XYLEM Non living tube, conducting water UP ONLY. Consists oI thickened dead cells.
Physical process
1. Transpiration, water is pulled up Irom roots to leaves
2. Tension, a pull on the water Iurther down
3. Cohesion, water molecules stick together
4. Adhesion, water sticks to the side, climbs the xylem via capillary action
PHLOEM - Living cells, moves sugars and small amounts oI amino acids both UP AND DOWN.
Consists oI long columns oI living sieve cells, with perIorated end walls. Next to the sieve is a
companion cell. Large internal space oI the sieve cell is Ior TRANSLOCATION oI organic material by
a pressure flow mechanism.
'Source to Sink'
SOURCE oI sugar; loaded up in the sieve tube causing water to move in through osmosis
SINK; sugar is taken out oI sieve tube and used or stored, water Iollows causing a drop in
pressure
The build up oI sugar at the source and drop at the sink causes water to Ilow Irom source to sink,
taking the sugar with it.
9.2.2.S1 PerIorm a Iirst-hand investigation to demonstrate the eIIect oI dissolved carbon dioxide on
the pH oI water
AIM: To test the eIIect oI dissolved CO2 on the pH oI water
METHOD:
1. Put 3 CaCO3 chips into a test tube and halI Iill another with H2O
2. Place 23 drops oI universal indicator into the test tube oI water
3. HalI Iill the CaCO3 test tube with HCl and quickly stopper it with a 'glass elbow stopper; put the
other end oI the stopper into the second test tube
4. Record the initial colour oI the second test tube and any subsequent colour changes
5. Repeat this same experiment with a second test tubing containing Ca(OH)2, not H2O and
indicator. Record any changes to the solution.
CONTROL: Test Tube 2 is a control, iI the Ca(OH)2 turns milky, it means CO2 is being produced
RISK ASSESSMENT:
HCl is acidic; iI you get any on hands or skin or eyes wash oII immediately
Wear saIety goggles, enclosed shoes and tie back hair in case oI spills or splashes
RESULTS:
pH Change Colour Change
7 4 Green Orange
9.2.2.S2 PerIorm a Iirst-hand investigation using the light microscope and prepared slides to gather
inIormation to estimate the size oI red and white blood cells and draw scaled diagrams oI
each
AIM: To observe the sizes oI red and white blood cells under a microscope
METHOD:
1. Set up slides under microscope at 400x magniIication
2. Estimate the number oI blood cells that could 'Iit acrossthe Iield oI view
3. Calculate the size oI the blood cells and draw labelled diagrams
RESULTS:
Human Red Blood Cell 400x
Actual Size: 6.5um
400/72 5.56um
Scale: 4.9cm : 5.5um
1cm : 1.12um
Human White Blood Cell 400x
Actual Size: 8um
400/50 8um
Scale: 4.7cm : 8um
1cm : 1.7um
9.2.2.S3 Analyse inIormation Irom secondary sources to identiIy current technologies that allow
measurement oI oxygen saturation and carbon dioxide concentrations in blood and describe
and explain the conditions under which these technologies are used
One oI the main technologies utilised by hospitals Ior monitoring oxygen levels in a patient's blood is
the pulse oximeter. The pulse oximeter is a small clip with a sensor that is attached to the patients Iinger.
The colour oI a patients blood varies depending on the amount oI oxygen in it (blood that is high in
oxygen is bright red while blood low in oxygen is a darker). The sensor emits a light which passes through
the Iinger and the amount oI light absorbed is picked up on the other side oI the Iinger. A reading is then
given in a percentage Iorm.
Pulse oximetry is used to monitor the level oI oxygen in a person's blood during heavy sedation or
anesthesia. This device is also used when a person is on a ventilator, artiIicial breathing machine, during
stress testing, in sleep laboratories, when checking the body's response to diIIerent medications or to
monitor a person with asthma or who is having trouble breathing.
Second technology is an ABG (arterial blood gas) machine. Machine measures the oxygen and carbon
dioxide levels in a sample by monitoring the rate oI diIIusion oI these through artiIicial membranes. When
moving through a membrane, oxygen in the blood produces an electrical current while carbon dioxide
changes the pH oI the solution.
9.2.2.S4 Analyse inIormation Irom secondary sources to identiIy the products extracted Irom donated
blood and discuss the uses oI this product
Three main blood components collected during donations: red blood cells, platelets and plasma.
Red blood cells used to carry oxygen around the body and remove carbon dioxide. Used to treat
patients with severe anaemia, patients with blood cell malIunctions and those who have
experienced severe bleeding.
Plasma is the Iluid that red cells, white cells and platelets are suspended in. Contains important
sugars, nutrients and clotting Iactors (help stop bleeding). Most versatile component oI blood as it
can be processed into a variety oI products. See http://www.donateblood.com.au/all-about-
blood/diIIerent-donation-types/plasma-products Ior a Iull list.
Platelets assist in blood clotting by clumping together to seal breaks in blood vessels. Used
primarily in treatment oI people with various cancers. Diseases such as leukaemia and medical
treatments like chemotherapy can decrease a person's platelet count, causing dangerous
spontaneous bleeding.
9.2.2.S5 Analyse and present inIormation Irom secondary sources to report on progress in the
production oI artiIicial blood and use available evidence to propose reasons why such
research is needed
Two hopeIul technologies: perIluorocarbons and modiIied haemoglobin.
Perfluorocarbons completely man-made (advantages: unlimited manuIacturing; ability to be heat-
sterilized). Removed Irom the bloodstream within 48 hours by the body's normal clearance procedures.
PerIluorocarbon particles in solution can carry several times more oxygen per mL than blood, while being
40x-50x smaller than haemoglobin.
Modified haemoglobin modiIied human/animal haemoglobin which has been chemically stabilised so
it will not dissociate and cause damage outside oI red blood cells. Works in the same way regular
haemoglobin does Irom an oxygen-carrying perspective.
Neither oI these have been Iully approved Ior clinical use in Australia. Such research is necessary as
these blood substitutes could:
Virtually eliminate any risk oI contracting inIectious diseases Irom a transIusion
Pasteurisation could be used to remove all pathogens
No need Ior cross-matching and typing as the artiIicial blood contains no blood-group antigens
saving time and allowing on-the-spot transIusions
ArtiIicial blood can be stored Ior more than one year, compared with about one month Ior donor
blood

9.2.2.S6 Choose equipment or resources to perIorm a Iirst hand investigation to gather Iirst hand data
to draw transverse and longitudinal sections oI phloem and xylem tissue
AIM: To observe and draw transverse and longitudinal sections oI xylem and phloem in celery
METHOD:
1. Set up a slide oI a transverse section oI phloem and xylem under a light microscope.
2. Draw what you can see, using an appropriate magniIication.
3. Repeat this process Ior a longitudinal section.
RESULTS:
LOST THIS PRAC OUT OF PRAC BOOK. Drawing gone.
Pretty much 4 diIIerent cell/tissue types visible in the slides the school has xylem tissue, phloem
tissue, cambium cells, cap cells.
TRANSVERSE
Cap cells are the dense purple ones on the outside oI the vascular bundle, very thick cell walls to give
structure no other Iunction.
Cambium cells are located in between the xylem and phloem tissues; they are undiIIerentiated
xylem/phloem so that they can become either.
Xylem tissue is much larger with thicker cell walls and is on the inside.
Phloem tissue is smaller and on the outside, small green cells in between are the companion cells.
LONGITUINAL
Xylem are much wider than phloem and a reinIorced with lignin, looks like a spiral going around the
outside.
Phloem cells are slightly thinner and have sieve plates and companion cells.
Cap cells should again be quite densely purple.
II all else Iails, look Ior cap cells, they are the very densely purple cells because oI the thick cell walls.
From there you should be able to distinguish between phloem and xylem as the general structure is
OUTER EDGE Cap Cells Phloem Xylem INSIDE/MIDDLE
9.2.3 Plants and animals regulate the concentration of gases, water and waste products of
metabolism in cells and in interstitial fluid
9.2.3.1 Explain why the concentration oI water in cells should be maintained within a narrow range
Ior optimal Iunction
Water levels should be maintained because it is used Ior chemical reactions, blood plasma,
evaporation and cooling, absorbing or releasing heat, moistening tissues to prevent dehydration and
moistening membranes to allow diIIusion. II water levels are too low the cell will 'shrivel' and won't be
able to perIorm these processes, similarly iI water levels are too high it will balloon and and even burst.
9.2.3.2 Explain why the removal oI wastes is essential Ior continued metabolic activity
Removal oI waste is essential Ior metabolic activity because it has no use whatsoever to the body and
may contain harmIul substances such as caIIeine, alcohol and other toxins. An accumulation oI these
substances can have harmIul eIIects, not to mention they take up space that useIul chemicals could utilise.
9.2.3.3 IdentiIy the role oI the kidney in the excretory system oI Iish and mammals
Role oI the kidney is Iiltration, reabsorption and secretion.
Used in Iorming and excreting urine while regulating water and salt concentration in the blood. It
maintains the precise balance between waste disposal and the organism's needs Ior water and salt.
Role in Iish depends on environment
Marine fish the kidneys excrete small quantities oI highly concentrated urine. Helps conserve water
and excrete excess salt gained Irom environment.
Fresh fish - kidneys work continuously to excrete copious quantities oI dilute urine, has a very low
salt concentration. Helps to remove excess water gained Irom environment.
9.2.3.4 Explain why the processes oI diIIusion and osmosis are inadequate in removing dissolved
nitrogenous wastes in some organisms
DiIIusion and osmosis are inadequate processes Ior removing waste because they are both Iorms oI
passive transport. DiIIusion is too slow Ior normal bodily processes to work with and it does not
discriminate between useIul and harmIul solutes. Osmosis only deals with water and so would not allow
Ior the removal oI nitrogenous waste.
9.2.3.5 Distinguish between active and passive transport and relate these to processes occurring in the
mammalian kidney
Active transport is where cells expend energy (in the Iorm oI ATP) to move substances against a
concentration gradient. Conversely, passive transport is when no energy is expended and substances
simply move with the concentration gradient (i.e osmosis and diIIusion)
In the mammalian kidney, both such Iorms oI transport occur. The blood is Iiltered by the kidneys
(kidney tissues have a high concentration oI mitochondria) and aIter Iiltration the water diIIuses back into
capillaries via osmosis. Ions in the blood are secreted into the kidney nephron via other cells (actively).
9.2.3.6 Explain how the processes oI Iiltration and reabsorption in the mammalian nephron
regulate body Iluid composition
Filtration oI the blood occurs in the nephron's in the kidneys, blood pressure Iorces Iluid into Bowman's
capsule (however red blood cells and proteins are too large to Iit). This is a non-selective process so many
important substances are reabsorbed (reabsorption takes place, selectively, at various points along the
nephron). Water is continually reabsorbed (except ascending loop oI Henle) according to Ieedback Irom
the hypothalamus. Ion reabsorption occurs at diIIerent rates and sections according to Ieedback Irom the
body/concentrations in the blood.
9.2.3.7 Outline the role oI the hormones, aldosterone and ADH (anti-diuretic hormone) in the
regulation oI water and salt levels in blood
Diuresis the loss oI urine
Diuretic a substance which increases urine volume
Antidiuretic substance which reduces urine volume
Anti-diuretic Hormone (ADH)
Increases water permeability oI collecting tubules in nephrons. Is released in response to increased
salt levels in the plasma. Used to conserve body water and regulate salt levels (stop dehydration). It
increases urine concentration but decreases urine volume.
Aldosterone
An adrenal corticosteroid. It is largely secreted in response to a reduction oI blood volume. It stimulates
active reabsorption oI sodium; water is passively absorbed with the sodium. This increases blood volume
and blood pressure also Iacilitates clearance oI K ions.
9.2.3.S3 Present inIormation to outline the general use oI hormone replacement therapy in people who
cannot secrete aldosterone
Hormone replacement therapy (Ior aldosterone) is used to treat Addison's disease (caused by a lack oI
aldosterone). When the body cannot secrete aldosterone, water and salt balances cannot be maintained and
blood volume can Iall dangerously low, causing a severe drop in both blood pressure and hydration levels.
The drug to treat this is Iludrocortisone, however use oI it must be monitored to avoid Iluid retention and
high blood pressure.
9.2.3.8 DeIine enantiostasis as the maintenance oI metabolic and physiological Iunctions in
response to variations in the environment and discuss its importance to estuarine organisms
in maintaining appropriate salt concentrations
Enantiostasis is the maintenance oI metabolic and physiological Iunctions in response to variations in
the environment. It is especially important in organism's which live in estuarine environments due to the
constant changes in the environments salt concentrations. Without enantiostasis estuarine organisms
would not be able to maintain homeostasis and consequently metabolic processes would be interrupted.
Most marine invertebrates are osmoconformers, meaning they allow their body's osmotic pressure to vary
with the environment. Most marine mammals and Iish are osmoregulators, meaning they maintain
homeostasis regardless oI the environments osmotic pressure. For normal Iunctioning to be maintained,
another Iunction must be changed to compensate Ior the change e.g a change in salt concentration may
reduce eIIiciency, the body compensates by increasing pH; increasing eIIiciency.
9.2.3.9 Describe adaptations oI a range oI terrestrial Australian plants that assist in minimising water
loss
Leaves oI plants contain stomates that allow the exchange oI gases essential Ior respiration and
photosynthesis. Include water vapour, oxygen and carbon dioxide. II stomates are open, there will be a
loss oI water by transpiration and evaporation. Plants in arid areas have to balance the need Ior carbon
dioxide with the need to conserve water.
Hard leathery, needle-shaped leaves reduced surIace areas such as Hakea sericea (needlebush)
Eucalypts avoid high heat in the middle oI the day by hanging their leaves vertically to present less
surIace area to sun
Waxy cuticle prevents evaporation in many Eucalypts
Sunken stomates i.e spiniIex
9.2.3.S2 Gather, process and analyse inIormation Irom secondary sources to compare the process oI
renal dialysis with the Iunction oI the kidney
Like the nephrons oI the kidney, dialysis machines separate molecules Irom the blood; they remove
some and return others.
Blood is pumped Irom an artery through dialysis tubes made oI a semi-permeable membrane; this tubing
allows only water and small molecules to pass through it into a dialysing solution which surrounds the
tube. This solution is similar to the interstitial Iluid Iound around nephrons.
As blood circulates the dialysis, urea and excess salts diIIuse out oI it instead oI leaving by pressure
Iiltration, as in the nephron. Those substances needed by the body, such as bicarbonate ions (HCO3)
diIIuse Irom the dialysing solution into the blood (reabsorption). The machine continually discards used
dialysing solution as wastes build up in it.
Two healthy human kidneys can Iilter the entire blood volume about once every halI-hour, whereas renal
dialysis is much slower and less eIIicient, however it saves the lives oI people with damaged kidneys.
9.2.3.S4 Analyse inIormation Irom secondary sources to compare and explain the diIIerence in urine
concentration oI terrestrial mammals, marine Iish and Ireshwater Iish
Animal Animal Urine Concentration/Reason Urine Concentration/Reason
Terrestrial
Mammal
Concentration and volume varies depending on location. Desert animals highly
concentrated, coastal animals less concentrated.
Because terrestrial mammals must conserve water as well as excrete waste, the
concentration varies depending on changing conditions.
Marine Fish Highly concentrated urine Concentration oI dissolved substances is lower in the
body than in the seawater. Water thereIore moves out by osmosis and salts diIIuse
in. Marine Iish excrete excess salt through gills and concentrate urine, as well as
drink copious amounts oI water to retain hydration levels.
Freshwater Fish Very dilute urine concentration oI dissolved substances is higher in body than in
surrounding water. Water thereIore moves in by osmosis and Ireshwater Iish are
thereIore always ridding themselves oI excess water through large amounts oI
dilute urine.
9.2.3.S1 PerIorm a Iirst hand investigation oI the structure oI a mammalian kidney by dissection, use
oI a model or visual resource and identiIy the regions involved in the excretion oI waste
products
AIM: To identiIy the parts oI a mammalian kidney and relate these parts toe their Iunction
METHOD:
1. Place a pigs kidney on a dissecting tray and try to locate the three tubes on the concave surIace
2. Draw an label an external side view, beIore dissecting
3. Use a scalpel to cut the kidney down the middle, starting at the convex surIace do not cut the
tubes on the concave surIace
4. Draw the internal structure oI the kidney
5. Observe a photomicrograph oI cortex tissue and identiIy the nephrons, Bowman's capsule and
glomerulus
RESULTS:
9.2.3.S5 Use available evidence to explain the relationship between the conservation oI water and the
production and excretion oI concentrated nitrogenous wastes in a range oI Australian insects
and terrestrial mammals
Three kinds oI nitrogenous waste:
Ammonia very toxic, soluble, must be removed immediately; Iish and tadpoles AMMONOTELIC
Urea - toxic, soluble, can be stored Ior a while; mammals, terrestrial animals, sharks UREOTELIC
Uric Acid less toxic, not very soluble, stored Ior extended time; bird, reptiles URICOTELIC
A Iine balance must be made between conserving water and using it to remove waste. Australian
terrestrial mammals living in arid areas, such as the Bilby or Red Kangaroo produce very concentrated
urine and tolerate high levels oI urea in their systems. Some insects excrete uric acid, a very dry waste
requiring virtually no water to remove. It also has a low toxicity so that it can be kept in the body Ior long
periods oI time, and is usually excreted through tubules as uric acid crystals.
9.2.3.S6 Process and analyse inIormation Irom secondary sources and use available evidence to
discuss processes used by diIIerent plants Ior salt regulation in saline environments
Three kinds oI salt regulation in terrestrial plants: ~SEA
SECRETION - plant has glands on leaves which secrete salt, it is then blown or washed away
EXCLUSION - structures in the roots oI the plant prevent the uptake oI salt Irom water
ACCUMULATION - plant sacriIices certain branches by pumping salt to the area and letting it
die
Mangroves are a good example that use one or two oI these adaptations.
9.2.3.S7 PerIorm a Iirst hand investigation to gather inIormation about structures in plants that assist in
the conservation oI water
AIM: To gather inIormation on structures in Australian plants which assist in the conservation oI water
METHOD:
1. Find a number oI plants Irom around your local area and tear several leaves Irom them
2. CareIully observe each oI the plant structures, using a light microscope iI necessary
3. Record any structures which assist in preventing water loss in a table and make neat labelled
diagrams oI each
RESULTS:
Plant Hairs Colour Shape/Size H2O Storage Waxy Other Modifications
Grevillea
Light
underside

Wild Tobacco
Light
underside
Big

Callistemon UniIorm
Has 'phyllodes
1
Eucalypt

UniIorm Large-ish
Hangs vertically
Banksia
Light
underside
Small, many

PigIace

UniIorm Fat, Ileshy
Stores H2O in Ilesh
Casuarina UniIorm Very thin

Thin needle-like
leaves
1 Phyllodes - Flattened, green leaI stalks, photosynthesise but have less stomata than leaves, reducing water loss
9.3 9.3 The Blueprint of Life The Blueprint of Life
9.3.1 Evidence of evolution suggests that the mechanisms of inheritance, accompanied by
selection, allow change over many generations
9.3.1.1 Outline the impact on the evolution oI plants and animals oI:
changes in physical conditions in the environment
changes in chemical conditions in the environment
competition Ior resources
The theory oI evolution is that all organisms have developed Irom pre-existing organisms, meaning all
organisms have a common origin.
EVOLUTION
Evolution is the gradual change of an organism over time,usually in response to a changing
environment.
Other theories are emerging however that evolution has long periods of stability, Iollowed by rapid
changes known as the punctuated equilibrium model oI evolution.
Evolution is brought about by several things
Changes to the chemical environment
Changes to the physical environment
Competition Ior limited resources
Past and current changes to the chemical environment:
- Oxygenation oI the atmosphere
Depletion oI carbon dioxide
Removal oI many dissolved metals Irom the oceans (gone Irom hostile sustaining)
Recent smaller scale changes include pesticides and antibiotics, Iorcing mosquitoes and bacteria
to evolve
Past and current changes to the physical environment:
- Volcanic activity resulting in global cooling
Addition oI ozone layer
Rising and Ialling sea levels
Tectonic activity
Recent smaller scale changes include diversion oI rivers Ior irrigation or land clearing Ior
agriculture
When there is competition Ior resources, an organism has three choices:
Become extinct or move
Have your competitors become extinct or move
Look Ior alternative resources and diversiIy
9.3.1.2 Describe, using speciIic examples, how the theory oI evolution is supported by the
Iollowing areas oI study:
palaeontology, including Iossils that have been considered as transitional Iorms
biogeography
comparative embryology
comparative anatomy
biochemistry
The theory oI evolution is supported by several diIIerent studies, including:
biogeography comparative anatomy
comparative embryology biochemistry
palaeontology, including the Iossil record and 'transitional species'
PALAEONTOLOGY / THE FOSSIL RECORD
Transitional Iorms are Iossils oI organisms which are a link between ancient Iorms oI liIe and more
modern Iorms, some examples include
Archaeopteryx, linking dinosaurs with modern birds
A complete Iossil record showing the development oI the horse
Australopithecus, showing a link between man and ape
BIOGEOGRAPHY
Darwin and Wallace both observed the distribution oI species into diIIerent biogeographic regions and
saw this as major evidence to support the theory oI evolution. They argued that animals in diIIerent
regions had come Irom ancestors in the same region and had, over time, adapted to the conditions there.
Best example is Darwin's Iinches on the Galapagos Islands, which all shared a common ancestor but had
evolved to occupy and niche in their environment on each species island.
COMPARATIVE EMBRYOLOGY
There is obvious similarities between embryos oI Iish, amphibians, reptiles, birds and mammals. A
comparison oI embryos oI vertebrates shows that they all have gill slits even though they do not remain
later in liIe (except in Iish). This is an indicator oI a Iundamental step common to all vertebrates and helps
to support the idea oI evolution Irom a common ancestor.
COMPARATIVE ANATOMY
A comparison oI the pentadactyl Iorelimb oI many vertebrates shows many common Ieatures. These
Iorelimbs show a common ancestry but each have diIIerent Iunctions (an example oI divergent evolution,
seen in next dot point). These are called homologous structures same ancestry diIIerent Iunction (as
opposed to analogous, which is diIIerent ancestry, same Iunction).
BIOCHEMISTRY
Because all living things contain DNA, RNA and proteins, scientists can compare the proteins/genes
Iound in diIIerent organisms. It has been shown that a number oI proteins can be Iound in virtually all
organisms, however over time variations have arisen in some 'marker genes'. The extent oI these
diIIerences allows a scientist to predict how closely related two organisms are and predict how long ago
they split Irom a common ancestor.
Comparative Anatomy - Pentadactyl Limb
Comparative Embryology
9.3.1.3 Explain how Darwin/Wallace's theory oI evolution by natural selection and isolation
accounts Ior divergent and convergent evolution
AlIred Wallace and Charles Darwin came up with a detailed account oI evolution; both had travelled
extensively and made many observations. They came up with a mechanism Ior natural selection, based
on these principles:
OVERPRODUCTION
Species produce more young than will survive to reproductive age
VARIATION
Individuals vary Irom one another in many characteristics. Some variations are mire
beneIicial to the conditions oI the time than others.
COMPETITION
There is competition among oIIspring Ior resources.
SURVIVAL OF THE FITTEST (PHENOTYPE)
Individuals with the most Iavourable characteristics will be likely to survive and pass their
genes on to the next generation.
FAVOURABLE COMBINATIONS INCREASE
Each new generation will have more oIIspring Irom the individuals that had Iavourable
characteristics than oIIspring Irom those that didn't.
DIVERGENT EVOLUTION
Organism's Irom a common ancestor are exposed to diIIerent selection pressures and consequently move
Iurther away Irom each other (on a genetic scale) over time.
e.g lions, tigers
CONVERGENT EVOLUTION
Organism's Irom diIIerent origins which are subjected to the same selection pressures and consequently
become more similar as time progresses (physically, not genetically).
e.g sharks, dolphins
The theory oI natural selection by isolation (as in Darwin's Iinches) can be explained like so:
Parent population expands its range, occupies new parts oI environment. May be due to
competition Ior resources (Principle #3)
Gradual Iormation oI physical barriers may isolate parts oI the population, (e.g mountains,
rivers, changing sea level) restricting gene Ilow
Genetic makeup in each subspecies begins to undergo changes, preventing mating with other
populations
Species gene pool becomes reproductively isolated
The isolated populations can still breed genetically, but generally they won;t (two Iorms...)
SYMPATRIC SPECIES When the physical barrier is removed, interaction between two
populations which can genetically breed, but generally won't
ALLOPATRIC SPECIES When the physical barrier remains; two populations can
genetically interbreed but physically can't
IN SUMMARY Darwin/Wallace's theory oI NS by Isolation shows that when species are separated they
adapt to their conditions and grow genetically apart. When two diIIerent organisms are placed in the same
conditions (Irom diIIerent origins) they adapt in the same way and grow closer (physically).
9.3.1.S1 Plan, choose equipment or resources and perIorm a Iirst-hand investigation to model
natural selection
Modelling Natural Selection - Peppered Moths Simulation
Computer simulation which starts out with healthy trees, which then become polluted due to
industrialisation. Shows how the darker moths which previously were at a disadvantage on the lighter
trees and couldn't survive, now had a higher chance at survival than the white ones (which now stood out
on the blackened tree trunks).
9.3.1.S2 Analyse inIormation Irom secondary sources to prepare a case study to show how an
environmental change can lead to a change in a species
Changing Chemical Conditions
Cattle ticks; initially they were controlled with arsenic-based cattle dips. However they began showing
resistance to this. DDT was the introduced to control populations which, at Iirst, reduced tick numbers,
but they soon became resistant to this pesticide too. Further chemicals were used to try and hinder tick
populations but each time resistant strains began appearing; how?
Through natural selection, some ticks in a population had a natural-born resistance (Irom a mutation in
their genes) to the chemical being used against it, beIore the use oI the pesticide the numbers oI ticks with
this resistance was low, but once the chemical was used it had no other ticks to compete against and
consequently survived to pass on its genes to its oIIspring. From these ticks entirely new, pesticide
resistant strains grew.
Changing Physical Conditions
Peppered moths; see above.
9.3.1.S3 PerIorm a Iirst-hand investigation or gather inIormation Irom secondary sources (including
photographs/diagrams/models) to observe, analyse and compare the structure oI a range oI
vertebrate Iorelimbs
View earlier pentadactyl limb images. Each oI the limbs contain a bone in the upper limb (humerus), two
bones in the lower limb (radius and ulna) and Iive Iingers. Each oI these structures vary Ior the organism
they belong to, and have a diIIerent Iunction in each organism to help it survive in its environment.
9.3.1.S4 Use available evidence to analyse, using a named example, how advances in technology have
changed scientiIic thinking about evolutionary relationships
Several scientiIic techniques to determine evolutionary relationships.
DNA HYBRIDISATION -
2 strands oI DNA are separated and mixed with separated strands Irom another organism to see how well
they Iorm new double strands the closer the relationship the more double strands will be Iormed. Quite
an old Iashioned technique but gives a quick idea
AMINO ACID SEQUENCING -
Amino acid sequences in certain proteins reveal great similarities and diIIerences between species.
Closely related species have proteins with similar amino acid sequences. The degree oI similarity is
determined by the number oI mutations that have occurred. II two species are distantly related, the greater
time elapsed since common ancestry has allowed Ior greater time Ior mutations to occur, leading to a
greater diIIerence in the amino acid sequences.
How has this affected evolutionary thought?
New technologies have revolutionised classiIication systems, where plants were initially catalogued by
appearance which had many inconsistencies (especially where convergent evolution has taken place).
Scientists have now been able to draw more accurate evolutionary trees.
9.3.1.S5 Analyse inIormation Irom secondary sources on the historical development oI theories oI
evolution and use available evidence to assess social and political inIluences on these
developments
HISTORICAL THEORIES ON EVOLUTION
1ean Baptiste de Lamarck
Believed organisms passed on traits acquired in their liIetime discredited by evidence oI hereditary
mechanisms. Important as he proposed changes over time were natural not divine.
Thomas Malthus
Believed populations increased in size until checked by the environment (e.g Iamine, disease,
widespread mortality).
Charles Lyell
Developed geological theorv of uniformitarianism Earth's Ieatures were a result oI slow
geological processes.
Herbert Spenser
Introduced concept oI Survival of the Fittest
Alfred Wallace & Charles Darwin
Came up with detailed account oI evolution; based on principles listed beIore. Used to exchange
letters and ideas. Darwin produced his book 'On the Origin oI Species and received recognition
and ridicule. Wallace's contributions have been vastly overlooked by comparison.
9.3.2 Gregor Mendel's experiments helped advance our knowledge of the inheritance of
characteristics
9.3.2.1 Outline the experiments carried out by Gregor Mendel
Gregor Mendel's experiments with pea plants showed inherited characteristics are not blended as
thought. But occur discretely (one or the other). He showed that these characteristics were passed on Irom
one generation to the next. Mendel grew two pure bred lines oI pea plants. He then cross bred these lines
to observe iI the characteristics were blended or not. His observations led to the Iormation oI his laws oI
genetics...
Each trait/characteristic was controlled by a pair oI inherited Iactors. e.g colour had a yellow or
green trait
In a plant, these traits could be identical or diIIerent. Plants with two identical Iactors were
reIerred to as 'pure breeds'; plants with diIIerent Iactors were called 'hybrids'
Each Iactor was a discrete particle which retained its identity across generations
The character that was expressed was known as the dominant character and the hidden character
was recessive
During meiosis, the members oI each pair oI Iactors separated, one per gamete (Mendel's Law
of Segregation)
During separation, members oI one pair oI Iactors behaved independently oI other pairs
(Mendel's Law of Segregation)
Mendel also observed that these recessive traits can be masked in one generation but reappear in later
generations. He Iound that characteristics could be inherited in predictable ratios.
He Iound when breeding two pure bred lines, all the oIIspring in the Iirst generation display the
dominant characteristic, however in the second generation the dominant : recessive characteristics were in
a 3 : 1 ratio.
9.3.2.2 Describe the aspects oI the experimental techniques used by Mendel that led to his success
The success oI Mendel's experiments was due to several Iactors:
The plant he chose, the garden pea had a simple pattern oI inheritance
They are grown quickly and easily, fast generation times with lots oI oIIspring
Peas can selI pollinate, so producing pure strains was easy
Cross-pollination is easy to manually achieve
Mendel studied one characteristic at a time
- Characteristics he studied were located on different chromosomes
Experiment was careIully controlled and replicated
Large amounts of data Ior very valid statistical inIormation
9.3.2.3 Describe outcomes oI monohybrid crosses involving simple dominance using Mendel's
explanations
In monohybrid crosses using simple dominance, when breeding two pure lines the F1 generation all
exhibit the dominant characteristic. When selI-pollinated, the F2 generation exhibit a 3 :1 dominant-
recessive ratio.
This can be shown through the use oI Punnett Squares...
PP x pp Pp x Pp
F
1
P P F
2
P p
p Pp Pp P PP Pp
p Pp Pp p Pp pp
In generation one two pure parents are bred together, during gamete production the chromosomes are
halved, and alleles separated. This means the possible alleles in PP's gametes are P and P (and p, p in pp).
As one gamete must be taken Irom either parent, Pp is the only combination possible. ThereIore 100 oI
the oIIspring will display the dominant phenotype, because they all contain at least one dominant allele.
In generation 2 however, Pp x Pp gives options Ior three genotypes, PP, Pp and pp (25, 50 and
25 chances respectively). This means that 75 oI the oIIspring will display the dominant phenotype,
however only 25 oI them will be homozygous dominant. Conversely, 25 oI the oIIspring will be
homozygous recessive; this explains Mendel's observations on characteristics which disappeared in one
generation and resurIaced in the next. It also explains how Mendel achieved the 3 : 1 ratio in his
experiments.
RULES FOR MONOHYBRID CROSSES
- Dominant allele is shown by a capital letter
- Recessive allele shown by the lower case of the same letter
Use one letter oI the alphabet when comparing related characteristics.
There should only be one gene describing a gamete, 2 in the zygote (except sex-linkage
crosses)
- Genotype is gene combination present.
- Phenotype is physical appearance.
Genotype and Phenotype ratios may not always be the same.
9.3.2.4 Distinguish between homozygous and heterozygous genotypes in monohybrid crosses
The genotype in a monohybrid cross is the genetic make up oI the individual Ior a particular
characteristic. It is symbolised by 2 letters, which can be both uppercase, one oI each, or both lowercase.
Both uppercase means the individual has both the dominant alleles, one oI each means exactly that, and
two lower case means they have both recessive alleles. For example a genotype DD, means that the
individual has the two dominant alleles.
A homozygous individual is when they have DD or dd, homozygous meaning the same.
A heterozygous individual (or 'hybrid') is when they have Dd, heterozygous meaning different.
9.3.2.5 Distinguish between the terms allele and gene, using examples
A gene is a region oI DNA which encodes Ior a particular characteristic. DiIIerent alleles are diIIerent
variations oI that gene (e.g the gene codes Ior the stem length, one allele codes Ior short the other Ior tall).
Some genes may have more than one allele. Alleles appear on the same place homologous chromosomes.
For example, there are 3 alleles which code Ior blood type in humans; A, B and O.
9.3.2.6 Explain the relationship between dominant and recessive alleles and phenotype, using
examples
Whenever there is a dominant allele in the genotype, this characteristic is expressed in the phenotype. So
Ior example, the allele Ior tall pea plants is dominant over the allele Ior short pea plants. So whenever the
genotype TT or Tt, occurs, the plant will be tall. The recessive characteristic is only expressed iI the
individual has both alleles recessive, e.g tt. Or yellow peas over green.
9.3.2.7 Outline the reasons why the importance oI Mendel's work was not recognised until some
time aIter it was published
The signiIicance/importance oI Mendel's work was not recognised until many years aIter his death,
mostly because:
He was not a scientist, he was a monk at a monastery. People doubted his credibility
He had little contact with other scientists during his experimentation
His work was groundbreaking however it was explained through mathematics; many people did
understand or appreciate the connection mathematics could have with biology
His work wasn't all that controversial, unlike Darwin'
Little knowledge about cells and no knowledge oI genes/chromosomes at the time
9.3.2.S1 PerIorm an investigation to construct pedigrees or Iamily trees, trace the inheritance oI
selected characteristics and discuss their current use
Pedigree charts are a way oI graphically illustrating inheritance patterns over a number oI generations.
They are oIten used to study the inheritance oI genetic disorders. Some genetic disorders may be sex
linked (e.g haemophilia, colourblindness)
Pedigrees are used by doctors to help advise Iamilies about the chance oI Iuture children having a
genetic disorder.
Genetic disorders may be autosomal dominant, autosomal recessive, sex-linked dominant or sex-
linked recessive.
THE X FAMILY TONGUE ROLLING TREE
Mr X cannot roll his tongue, Mrs X can.
Mr and Mrs X have 3 children; 2 daughters and a son. One oI the daughters can roll their tongue the
other can not. Their son can also roll his tongue.
Both oI Mr X's parents can roll their tongue, as can Mr X's brother, wiIe and 5 children.
Mrs X's parents can both roll their tongues as can Mrs X's brother and his wiIe.
Mrs X's brother and his wiIe have two daughters, one oI which can roll their tongue, the other can not
DRAW A PEDIGREE
EMPTY SQUARE UnaIIected Male EMPTY CIRCLE UnaIIected Female
FILLED SQUARE AIIected Male FILLED CIRCLE AIIected Female
9.3.2.S2 Solve problems involving monohybrid crosses using Punnett squares or other appropriate
techniques
Example questions:
Q1 In pea plants, round peas are dominant over wrinkled peas. Use a Punnett square to predict the
phenotypic and genotypic outcome oI a cross between two plants heterozygous Ior round peas.
Heterozygous Rr (R round, r wrinkled)
R r
R RR Rr
r Rr rr
PHENOTYPIC RATIO: 3:1
GENOTYPIC RATIO: 1:2:1
Q2 Describe how you could establish whether or a tall pea plant is heterozygous or homozygous.
Tall pea plant must be TT or Tt. Breed the plant with a homozygous recessive.
F
A
t t F
B
t t
T Tt Tt T Tt Tt
T Tt Tt t tt tt
Grow the oIIspring Irom the cross; iI all tall then the plant is homozygous dominant (most likely). II
there is just one short plant then the plant was heterozygous.
Q3 a) In a genetics experiment a normal coloured rabbit was crossed with an albino rabbit. The
experiment was repeated three times using the same parental rabbits and the F1 totalled 11 normal
coloured oIIspring and 12 albino oIIspring. Draw a Punnett square to explain this inheritance.
B normal, b albino Options are BB x bb or Bb x bb
F
A
B B F
B
B b
b Bb Bb b Bb bb
b Bb Bb b Bb Bb
Because the oIIspring are in an approximately 1:1 ratio, the parent must be heterozygous, otherwise all
oIIspring would be normal colour.
Q3 b) The experimenters then crossed two normal rabbits several times and the total oIIspring Irom this
cross was 18 normal rabbits and 6 albino rabbits. Explain with Punnett squares.
Two normal rabbits options are: BB x BB, BB x Bb, Bb x Bb
F
A
B B F
B
B B F
c
B b
B BB BB B BB BB B BB Bb
B BB BB b Bb Bb b Bb bb
The only way to get a 3:1 ratio is to have both parents heterozygous. II all oIIspring were normal
coloured then the parents may have identical to those in F
A
or F
B.
9.3.2.S3 Process inIormation Irom secondary sources to describe an example oI hybridisation within a
species and explain the purpose oI this hybridisation
Hybridisation is the process oI Iertilisation oI the gamete oI one species by the gamete oI another
species. It is done to bring together desired genes; it usually involves the crossing oI two highly inbred
pure lines. The breeding oI two pure lines causes heterozygous oIIspring to be produced, passing on good
characteristics oI both parents. This results in hybrid vigour.
HYBRID VIGOUR
Is when the hybrid oIIspring has increased vitality, are generally much
stronger and larger than parents and can with stand extremer conditions.
This has been done to corn plants; two highly inbred lines were crossed and produced exceptional
yields. Most corn commercially available today is hybrid corn. It has also been used to introduce disease
resistant crops in Australia.
Another Iorm oI hybridisation is introgression breeding. This involves making 'wide crosses' bringing
in traits Irom wild relatives or marginally related species. Emphasises the need to maintain genetic
diversity.
Hybridisation also occurs in animals, but the oIIspring are inIertile.
SuIIolk Ram x Polypay Ewe
9.8 higher survival rate
18 more pounds oI lamb
Mules they cannot have babies however they are strong, sure-Iooted and smart. They are healthier, eat
less and can endure more extreme temperatures as well as living and working Ior longer.
POSITIVE CONSEQUENCES - Hybridisation revolutionised agriculture, raised overall Iood
production worldwide. Uses existing genes, not genetic engineering (positive socially/ethically).
NEGATIVE CONSEQUENCES - Loss oI genetic diversity, Increased health risk (more pesticides/
Iertilisers in environment, potential Ior pest/disease epidemics, practices may be unsustainable
LIMITATIONS - Can only use genes Irom within one species or closely related species. Desirable
pheno/genotypes may not exist. Takes many years to develop an improved variety.
9.3.3 Chromosomal structure provides the key to inheritance
9.3.3.1 Outline the roles oI Sutton and Boveri in identiIying the importance oI chromosomes
Sutton and Boveri established the link between the nucleus, chromosomes and inheritance. Boveri used
sea urchin eggs and sperm to show that inherited characteristics were located in the nucleus. Sutton
studied the way cells divide in the Iormation oI grasshopper sperm; he noticed chromosome pairs
arranged themselves independently oI each other.
HSC ONLINE
Boveri worked on sea urchins and showed that their chromosomes were not all the same and that a
Iull complement was required Ior the normal development oI an organism.
Sutton worked on grasshoppers and showed that their chromosomes were distinct entities. He
associated the behaviour oI chromosomes with Mendel's work on the inheritance oI Iactors and
concluded that chromosomes were the carriers oI hereditary units.
9.3.3.2 Describe the chemical nature oI chromosomes and genes
9.3.3.3 IdentiIy that DNA is a double-stranded molecule twisted into a helix with each strand
comprised oI a sugar-phosphate backbone and attached bases adenine (A), thymine (T),
cytosine (C) and guanine (G) connected to a complementary strand by pairing the bases
AT and GC
Chromosomes are made oI the protein histone and deoxyribonucleic acid DNA. Genes are segments oI
DNA; each DNA molecule consists oI 3 parts a sugar group (deoxyribose), a phosphate group, and a
nitrogen base.
The key Ieatures oI DNA are:
Each DNA molecule consists oI two nucelotide chains
The two chains are anti-parallel, they run in opposite directions
The sugar-phosphate backbone is located on the outside oI the double helix, they coil around each
other in a regular manner
The bases are located on the inside oI the double helix
There are very speciIic base pairing rules based on size and hydrogen bonds
The two strands are complementary
DNA is a double-stranded molecule twisted into a double helix. It is made up oI the components listed
above.
There are Iour nitrogen bases in DNA Adenine, Thymine, Guanine and Cytosine. Adenine always
pairs with Thymine and Guanine always pairs with Cytosine.
This is because Adenine and Thymine have space to Iorm two hydrogen bonds, and guanine and
cytosine have space to Iorm three hydrogen bonds. These H-bonds prevent mismatching (most oI the
time).
A and G are also larger molecules so iI they tried to pair the helix would bulge out; similarly T and C
are smaller molecules and it would shrink inwards iI they attempted to pair. This means the two strands
are complements oI each other.
9.3.3.4 Explain the relationship between the structure and behaviour oI chromosomes during
meiosis and the inheritance oI genes
9.3.3.5 Explain the role oI gamete Iormation and sexual reproduction in variability oI oIIspring
Characteristics of Meiosis -
Used n the Iormation oI gametes (sex cells)
once single cell divides twice to Iorm 4 daughter cells
The 4 daughter cells have halI the number oI chromosomes the parent cell had
Parent cells are diploid (has a pair oI each chromosome), daughter cells are haploid (has single
chromosomes)
DNA can be exchanged through 'crossing over'
How is genetic variation brought about by the formation of gametes in meiosis?
II an organism is heterozygous, when the chromosome pairs are separated two types oI gametes
are Iormed (one with dominant allele and one with recessive allele)
Independent assortment oI chromosomes results in diIIerent gametic possibilities
Crossing over exchanges DNA between homologous pairs
Because the gametes are obtained Irom two diIIerent parents (mother and Iather), there is variation
in oIIspring
During meiosis, the chromosomes in the parent cell replicate and then divide into two cells, each having
23 pairs. These cells then divide again however no replication takes place, leaving 4 daughter cells oI 23
chromosomes (not pairs).
(this is
'crossing over')
Homologous
9.3.3.6 Describe the inheritance oI sex-linked genes, and alleles that exhibit co-dominance and
explain why these do not produce simple Mendelian ratios
9.3.3.S2 Solve problems involving co-dominance and sex linkage
9.3.3.8 Explain the relationship between homozygous and heterozygous genotypes and the
resulting phenotypes in examples oI co-dominance
Mendel was Iortunate in that his choice oI Iactors all showed dominant/recessive characteristics.
However not all genetic inheritance Iollows Mendel's predicted phenotypic/genotypic ratios. Two
examples where the predicted ratios do not occur are in sex-linked genes and co-dominant genes.
CO-DOMINANCE
Co-dominance involves the independent expression of different genes, with no blending effects. One
example oI co-dominance is in cattle, when red cattle are bred with white cattle, a roan cattle is produced
(roan cattle have distinct red and white patches).
When showing this in a punnet square, both letters R and W are capital (meaning dominant), or in the
case oI blood typing where A and B are both dominant it is written as I
A
and I
B
.
When crossing two homozygous shorthorn cattle (a RR and a WW), the Iirst generation oIIspring will
all be roan.
F
1
R R
W RW RW
W RW RW
In the second generation halI will be roan, one quarter red and one quarter white. It can be noted that in
co-dominance the genotype and phenotype ratios Ior both heterozygous and homozygous are the same.
F
2
R W
R RR RW
W RW WW
SEX LINKED GENES
Sex-linked genes are those located on the X and/or Y chromosome. Examples oI sex-linked genes in
humans are red-green colour blindness and haemophilia. The gene Ior these disorders is carried on the X
chromosome, and due to its signiIicantly smaller size there is no corresponding gene on the Y
chromosome. This means that iI males receive a Iaulty X chromosome they will have that condition,
whereas Iemales require two Iaulty X chromosomes to have the condition. This means that more oIten
than not males are aIIected with the condition and Iemales aren't. II you observe a cross between a normal
Iemale and an aIIected male...
X
N
X
N
X
n
X
N
X
n
X
N
X
N
Y
X
N
Y X
N
Y
All children have normal sight, however iI the carrier Iemale crosses with a normal male (1) then there
is a 1 in 2 chance that any male will be born with the condition.
X
N
X
n
X
n
X
N
X
n
X
n
X
n
Y
X
N
Y X
n
Y
Q1 Predict the phenotypic ratios oI oIIspring when a homozygous white cow is crossed with a roan bull.
Prediction: There will be 50 White oIIspring and 50 roan oIIspring.
W W
R RW RW
W WW WW
Q2 What should be the genotypes and phenotypes Ior parent cattle iI a Iarmer wanted only cattle with
red Iur?
The parents must be RR and RR, any other combination including W would produce WW or RW
oIIspring.
F
A
R R F
B
R R F
C
R R
R RR RR R RR RR W RW RW
R RR RR W RW RW W RW RW
Q3 - Predict the phenotypic and genotypic outcomes oI a cross between a haemophiliac male and a
haemophiliac Iemale.
All oIIspring will be aIIected with the disease.
X
n
X
n
X
n
X
n
X
n
X
n
X
n
Y
X
n
Y X
n
Y
9.3.3.7 Describe the work oI Morgan that led to the understanding oI sex linkage
Morgan was a genetics researcher who used Iruit Ilies to study inheritance. He Iound a white-eyed Ily in
his specimens and began breeding it with red-eyed Ilies. As expected the gene was recessive, all oI F1 had
red eyes but / oI F2 had white eyes.
F
1
R R F
2
R r
r Rr Rr R RR Rr
r Rr Rr r Rr rr
Morgan noticed that it was almost exclusively males that had white eyes. When he tried to breed a white
eyed Iemale with a red eyed male, all oI the male oIIspring had white eyes.
X
r
X
r
X
R
X
R
X
r
X
R
X
r
Y
X
r
Y X
r
Y
He concluded eye colour was carried on the X chromosome and that there was no match Ior it on the
smaller Y chromosome.
9.3.3.9 Outline ways in which the environment may aIIect the expression oI a gene in an individual
An individual's phenotype is not only the result oI inheriting a particular set oI parental genes, the health
oI both the mother and the characteristics oI the uterus in which the egg is implanted can have major
impacts on the child's development (e.g Ietal alcohol syndrome).
Because monozygotic twins come Irom the same zygote, they are genetically identical. ThereIore iI
there are diIIerences in phenotype, it must be due to the environment. This is easily seen where twins have
been raised in similar environments and look very similar; and also where twins have been separated at
birth and reunited later, when diIIerences are much more apparent.
Various factors may influence the phenotype of the child:
Diet and exercise
Education and values oI parents
Whether the person smokes or not
Where they live in terms oI the environment (polluted areas etc.)
The environment can influence certain characteristics:
Brain development (in pregnancy and while growing up)
Height and weight
Skin colour
In plants, pH can sometimes aIIect phenotype (e.g petal colour in hydrangeas). Fertilisers can aIIect
plant growth and yield. Temperature can aIIect the sex oI the oIIspring in many reptiles (saltwater
crocodile, turtles).
9.3.3.S1 Process inIormation Irom secondary sources to construct a model that demonstrates meiosis
and the process oI crossing over, segregation oI chromosomes and the production oI haploid
gametes
AIM: To model the process oI meiotic cell division, crossing over, segregation oI chromosomes and
production oI haploid gametes with straws and lollies
RISK ASSESSMENT: Nothing oI considerable danger; be careIul when cutting with scissors.
METHOD:
1. Prepare one Iaux chromosome pair made oI straws with a 'liIe saver lolly on either end (make
sure both chromosomes are a unique colour)
2. Begin the process oI meiosis by adding a duplicate oI the chromosomes around a centre point
3. Cut oII the end oI two diIIerent chromosomes (including the liIe saver) and insert it into the
opposite chromosome/straw (this is crossing over)
4. Arrange the pairs opposite each other across the centre oI a 'cell and pull the homologous pair
apart (Iirst meiotic division)
5. Pull the chromosomes apart again so you are leIt with 4 haploid gametes (second meiotic division)
RESULTS:
9.3.3.S3 IdentiIy data sources and perIorm a Iirst hand investigation to demonstrate the eIIect oI
environment on phenotype
AIM: To perIorm an investigation which demonstrates the eIIect oI environment on phenotype
METHOD:
1. Add 10-20 genetic barley
1
seeds each to two small pots.
2. Add potting mix until the seeds are just covered
3. Water the pots with however much water is adequate
4. Place one pot in a cupboard and one in an open area that has good access to sunlight, label both
the pots as 'Dark and 'Light respectively
5. AIter several days remove Irom their environments and observe the plants
6. Record how many in each dish are green and how many are albino (white/yellow)
7. Place both pots in a light environment Ior several days, remembering to water them
8. AIter several days, observe the plants again and record how many are green and how many are
albino
RESULTS:
FIRST OBSERVATION
Dark Light
Number oI
green
Number oI
albino
Percentage
albino ()
Number oI
green
Number oI
albino
Percentage
albino ()
0 45 100 18 7 30.8
SECOND OBSERVATION
Dark Light
Number oI
green
Number oI
albino
Percentage
albino ()
Number oI
green
Number oI
albino
Percentage
albino ()
32 13 28.9 18 7 30.8
Plants require both the Chlorophyll producing gene and SUNLIGHT to photosynthesise. The 'yellow
plants in the dark environment were not producing chlorophyll because in the dark they had no use Ior it,
hence they were not green. However when they were moved into the sunlight they began |producing
chlorophyll and consequently turned green. The true albino's however (gg) stayed white the entire time as
even in the light they could not produce chlorophyll.
You can see that the ratios oI Green . Albino are very close to Mendel's 3:1 ratio, and would have been
even closer with more tests.
Hence this experiment shows the importance and powerful effect environment can have on
phenotype.
1 Genetic barley seeds were produced Irom a Gg x Gg cross, meaning there is a 25 chance oI the seeds being GG, a 50
chance oI them being Gg and a 25 chance oI gg, where G is produces chlorophyll and g is produces no chlorophyll (albino)
9.3.4 The structure of DNA can be changed and such changes may be reflected in the
phenotype of the affected organism
9.3.4.1 Describe the process oI DNA replication and explain its signiIicance
As we know, DNA consists oI two complementary strands oI base pairs, twisted into a double helix.
Complementary strands mean each strand is a reIlection oI the other (that is A and T reIlect each other, G
and C reIlect each other). These base pairing rules are essential to successIul DNA replication.
1. For replication to occur in cells, the chromosomes must Iirst coil and condense.
2. The DNA then begins 'unzipping or 'untwisting, and the two complementary strands split apart
3. Spare nucleotides which are Iloating around begin to bind with their complementary partners on
either oI the single strands
4. The binding process is catalysed by DNA polymerase, which also prooI reads DNA to check there
are no errors
5. The result oI this is two identical copies oI the original DNA strand, each containing one oI the old
strands and a brand new strand
Significance of DNA Replication
DNA replication is an important process because it passes the genetic inIormation on Irom
generation to generation. This is especially important in organism that reproduce sexually, when
halI oI the genetic code oI each parent is passed on to the oIIspring.
Without DNA Replication animals would not be able to sexually reproduce and hence many
species would not be alive today
9.3.4.2 Outline, using a simple model, the process by which DNA controls the production oI
polypeptides
9.3.4.3 Explain the relationship between proteins and polypeptides
9.3.4.S1 PerIorm a Iirst-hand investigation or process inIormation Irom secondary sources to
develop a simple model Ior polypeptide synthesis
PRODUCING A POLYPEPTIDE FROM DNA
1. Unzip DNA
2. Using bases oI RIBONUCLEIC acid (RNA), a strand oI messenger RNA (mRNA) is synthesised
this is called TRANSCRIPTION
DNA/mRNA Key Differences
DNA is double stranded
mRNA is single stranded
DNA uses Thymine, RNA uses Uracil
DNA uses deoxyribose, RNA use ribose
3. The mRNA enters the cytoplasm via a nuclear pore TRANSLOCATION
4. A ribosome attaches to the start oI the mRNA strand (an AGU codon)
5. A tRNA molecule with an amino acid attached to it moves into the ribosome. II the tRNA pairs
with the mRNA it will stay in the ribosome until the adjacent codon is Iilled by a new tRNA.
tRNA's are identiIied by their base pair sequences (anticodon) which complement the mRNA.
Named transIer RNA as it transIers amino acids. Pairing ensures right amino acid is attached
6. Ribosome slides along the mRNA strand to the next codon. A second tRNA carrying another
amino acid moves into the ribosome. The ribosome joins the two amino acids together by a
peptide bond.
7. Ribosome moves along another 3 bases, and another tRNA brings a new amino acid which is
joined onto the polypeptide chain. The tRNA separates Irom the amino acid and moves into the
cytoplasm, looking Ior another unjoined amino acid which can be used to make more polypeptides
8. Polypeptide chain continues to grow depending on the length oI the mRNA strand
9. UAA, UAG and UGA codons indicate that polypeptide synthesis should stop. The peptide chain is
released and the ribosome detaches Irom the mRNA. The mRNA is degraded and used to make
new strands.
10. The process Irom steps 4 to 9 is known as TRANSLATION.
All amino acids can be identified by their three-letter codons...
The relationship between proteins and polypeptides...
Proteins are compounds made up oI polypeptide chains; polypeptide chains are made oI amino acids
sequences. DiIIerent sequences Iorm diIIerent proteins with diIIerent Iunctions.
e.g they could be enzymes or structural proteins
Protein Synthesis
1ranslation
9.3.4.S2 Analyse inIormation Irom secondary sources to outline the evidence that led to Beadle and
Tatum's 'one gene one protein' hypothesis and to explain why this was altered to the
'one gene one polypeptide' hypothesis
Beadle & Tatum
Beadle and Tatum proposed the 'one gene one one enzyme' (or '- one protein') hypothesis in 1941,
meaning that one gene will only code Ior one enzyme.
This hypothesis was made aIter they conducted a series of experiments on the bread mould
Aeurospora crassa
They exposed the spores oI the Iungi to X-rays and UV radiation which produced mutant varieties oI the
mould.
Some oI these mutants could not live without a particular vitamin or amino acid on their agar medium,
as the mutant Iorms could not produce that particular amino acid. This showed that genes control an
organism's biochemical processes.
This hypothesis was reIined to a 'one gene one polypeptide' hypothesis as not all genes code Ior
enzymes and because many proteins consist oI more that one polypeptide chain (e.g Haemoglobin).
Neurospora could grow as a haploid which would remove any dominant/recessive issues that may occur
in irradiation.
9.3.4.4 Explain how mutations in DNA may lead to the generation oI new alleles
MUTATIONS
Mutations are changes in the sequences oI bases in DNA may cause a change in physiology,
anatomy, behaviour
Many mutations may be silent or neutral (no observable eIIect)
HarmIul mutations may become evident as they may alter the survival capacity oI the organism
CAUSES OF MUTATIONS
May be random or spontaneous
From errors in replication
Genes may mutate at diIIerent rates
May be induced by environmental factors
May be induced by mutagens
radiation
viruses
microorganisms
poisons/irritants
alcohol and diet
EFFECT OF MUTAGENS ON DNA
Exposure to UV light can cause adjacent thymine bases to link to Iorm a thymine dimer; disrupts
normal base pairing and stuIIs up genes instructions
Chemicals such as asbestos, tobacco, tar etc. can alter DNA. Those most at risk are chemical
industry workers, smokers and coal workers
Mutations - POSITIVE, NEUTRAL, or NEGATIVE
Mutations are a source oI variation within a population, and important to the survival oI a species
Positive mutations result in an improved ability to Iunction in an environment
Changes in gametes can result in new alleles in the oIIspring
Majority oI mutations are neutral, mainly because the changes occur in areas that do not code Ior a
vital Iunction or do not result in a signiIicant change to the polypeptide
Negative mutations may result in abnormal cell division and maturation cancer
Changes in gametes can cause major developmental issues
TYPES OF MUTATION
Insertion/Deletion FRAMESHIFT MUTATIONS changes the coding Ior every amino acid as
every single codon is changed completely wrong polypeptide is produced
Substitution usually results in a diIIerent amino acid being coded, may also cause the
polypeptide to stop synthesising prematurely
Can also have entire chromosomal mutations where whole segments are removed or extras added
e.g in down syndrome the person has 3 copies oI chromosome 21
9.3.4.5 Discuss evidence Ior the mutagenic nature oI radiation
Radiation was the Iirst mutagenic agent known. Its eIIects on genes were Iirst noticed in the 1920's
Most oI the Iirst generation oI scientists who worked with radiation died oI cancer
A Iamous example is Marie Curie who died oI leukaemia.
Hans Muller received the Nobel Prize in 1927 showed genes had the ability to mutate when
exposed to X-rays
Beadle and Tatum used X-rays to produce mutations in bread mould in the Iormulation oI their
'one gene one polypeptide hypothesis
Atomic bombs on Hiroshima and Nagasaki increased evidence Ior mutagenic nature oI radiation
tenIold increase in cancer deaths
Only passed on iI mutation is in sex cells
9.3.4.S3 Process inIormation to construct a Ilow chart that shows that changes in DNA sequences
can result in changes in cell activity
9.3.4.6 Explain how an understanding oI the source oI variation in organisms has provided support
Ior Darwin`s theory oI evolution by natural selection
Fundamental tenet oI evolution is that there is variation within a species.
Basis oI this variation is diIIerences in genetic makeup through: mutation, meiosis (crossing over
and independent assortment) and sexual reproduction.
These sources oI variation provide the opportunity Ior new species to develop, hence supporting
Darwin's theory oI evolution.
9.3.4.7 Describe the concept oI punctuated equilibrium in evolution and how it diIIers Irom the
gradual process proposed by Darwin
DARWINIAN EVOLUTION
Darwin's theory claimed that, over a long period oI time, populations oI organisms change, that is, they
evolve. These changes usually result in a species that is better suited to its environment than it previously
was.
The main point oI Darwin's theory is that he claimed it to be a gradual process.
PUNCTUATED EQUILIBRIUM
Punctuated equilibrium model oI evolution was proposed by Eldredge & Gould. They stated that, rather
than occurring gradually over time, evolution occurred in short sharp bursts (geologically short),
Iollowed by long periods oI stasis.
Reasons Ior this proposal were that:
there was an absence oI many 'transitional' Iossils
there was a sudden appearance oI complex liIe in some parts oI the Iossil record
9.3.4.S4 Process and analyse inIormation Irom secondary sources to explain a modern example oI
'natural selection'
MODERN EXAMPLE - ANTIBIOTIC RESISTANCE
Organisms such as bacteria have very Iast generation times and quickly grow to large populations.
Amongst these large numbers oI bacteria, (as in any species) there is genetic variation between individuals
due to mutations, meiosis and sexual reproduction (although the latter two don't occur in bacteria, they
can be observed through insecticide resistance).
Due to this variation, some individuals may carry genes which provide them with some kind oI
resistance to a certain antibiotic. This means that when a colony comes into contact with the antibiotic it is
resistant to, those certain individuals will be able to survive and reproduce with reduced competition Irom
other bacteria oI the same species.
All the bacteria which come Irom this resistant one will also possess the antibiotic resistant gene and
slowly the antibiotics become less and less eIIective. Similar resistance can be observed with mosquitoes
and DDT.
The natural resistance possessed by those individuals that are able to survive and reproduce is a perIect
modern example oI 'survival oI the Iittest and natural selection.
9.3.4.S5 Process inIormation Irom secondary sources to describe and analyse the relative
importance oI the work oI:
James Watson
Francis Crick
Maurice Wilkins
Rosalind Franklin
in determining the structure oI DNA and the impact oI the quality oI collaboration and
communication on their scientiIic research
Science depends on scientists building upon the work oI previous scientists one oI the most notable
examples oI this is James Watson and Francis Crick's breakthrough in modelling the structure oI DNA.
This could not have been done without the hard work oI Rosalind Franklin, however her work has gone
largely unrecognised in the discovery oI the structure oI DNA.
Watson and Crick had been working on the structure oI DNA, they understood that DNA consisted oI
nucleotides and that AT and GC were always present in the same ratios but they could not quite get the
structure right.
Rosalind Franklin who had been working at another institution and had been doing extensive work with
x-ray diIIraction and produced the world best diIIraction image oI DNA.
Wilkins told Watson and Crick about it and stole Franklin's images and work Irom her and gave them to
Watson and Crick without her knowledge. This image was the missing piece oI inIormation Watson and
Crick needed to produce a correct model oI the structure oI DNA. Watson, Crick and Wilkins received the
Nobel Prize in 1962 Ior discovering the structure oI DNA, Franklin never knew her work had been stolen.
Franklin's work was incredibly important because without it Watson and Crick may never have
discovered the structure oI DNA. Collaboration and communication was almost non existent between the
two parties; had the situation not been so hostile, Iair outcomes may have been had by all those involved.
"Photo 51" - Franklins X-Rav
showing helical characteristics
9.3.5 Current reproductive technologies and genetic engineering have the potential to alter
the path of evolution
9.3.5.1 IdentiIy how the Iollowing current reproductive techniques may alter the genetic composition
oI a population:
artiIicial insemination
artiIicial pollination
cloning
9.3.5.S1 Process inIormation Irom secondary sources to describe a methodology used in cloning
ARTIFICIAL INSEMINATION
Sperm is taken Irom a donor male
Inserted into uterus oI Iemale
Advantages...
Desirable genetic traits can be passed on, can control inheritance
Sperm can be Irozen, making it quicker, easier and cheaper to transport than live animals
One male can 'service' many Iemales
Disadvantages...
Narrows the gene pool, same Iather Ior many oIIspring
Reduces diversity within a population, which is bad Ior evolution
Possible inbreeding issues with so many similar oIIspring undesirable recessive characteristics
may emerge
ARTIFICIAL POLLINATION
Much the same as AI except pollen is transIerred in a controlled way Irom the anther to the stigma
Has the same advantages and disadvantages as AI
CLONING
May be whole organism or gene cloning
Whole animal cloning involves removing nucleus Irom an unIertilised egg & Iusing it with the
nucleus oI a donor cell the egg only has genetic material Irom one organism Dolly the sheep
Gene cloning only genes are transIerred
Advantage to whole organism cloning: you get an exact copy oI the desired organism.
Disadvantage to whole organism cloning (or cloning in general): there is absolutely no genetic
variation within the species.
EMBRYO SPLITTING (Cloning Methodology)
Embryo splitting allows Ior a greater number oI desired oIIspring to be produced Irom a single Iertilised
egg. When the embryo has grown to a certain number oI calls it is split into smaller cells. A downside is
you don't know how the organism will turn out until it is born (unlike in whole organism cloning).
9.3.5.2 Outline the processes used to produce transgenic species and include examples oI this
process and reasons Ior its use
TRANSGENIC SPECIES a genetically modiIied organism (GMO) is an organism whose genetic
material has been altered using genetic engineering techniques.
Advantages of Cloning
Obtain desired human proteins e.g insulin
To engineer disease resistant plants
To engineer insecticide-producing plants
Animals can grow into saleable size Iaster
Steps of Cloning
1. Isolate and Iragment source oI DNA
2. Join source DNA to cloning vector
3. Incorporate DNA into host
4. Detect and puriIy desired clone
1. Isolate and fragment source of DNA
Restriction enzymes are used to cut the DNA molecule at a location known as a recognition site,
which is speciIic to each individual restriction enzyme. They are puriIied Irom bacteria.
Enzyme cuts leaving either 'sticky ends' (overhanging) or 'blunt ends' (no overhang)
In the case oI human DNA, the insulin producing gene was cut out oI human cells
2. 1oin source DNA to cloning vector
DNA Iragment has sticky ends speciIic to a certain gene sequence
The same restriction enzyme used to cut out the Iragment is used to cut a plasmid (circular strand
oI DNA Iound in bacteria. As the same restriction enzyme cut both DNA strands, the Iragment can
be inserted to Iill the break in the plasmid
Ligation is then used to 'glue' the DNA together (whereas beIore it was only being held there by
hydrogen bonds). This is done using an enzyme called DNA ligase
This is known as recombinant DNA
3. Incorporate DNA into host
The plasmid can be inserted into the bacteria and, using a combination oI temperature and
chemicals the bacteria can be induced to take up the DNA
A antibiotic resistant gene can be put into the plasmid too, and then the culture can be grown on an
antibiotic medium, any bacteria not containing the plasmid would die
They may also directly inject the DNA Iragment into a developing animal cell via microinjection
(skips the plasmid stage) or
Use a particle gun to Iire DNA into plant cells (gun is needed to break through the cell wall)
4. Detect and purify desired clone
As not all cells will take up the gene, must be able to diIIerentiate the two. One way oI doing this
is some bacteria have a colour gene; when DNA is inserted this colour gene is broken and so the
colourless bacteria are the ones with the inserted gene
Salmon w/ Growth Hormone
WHY ARE GMO'S USED?
Examples oI GMO's
Golden rice contains beta-carotene Ior Vitamin A
Bt corn contains toxin which is harmIul to insects but not humans
Are they common?
More common in America and Canada than Australia
Labelling oI GM Ioods is not mandatory unless they pose a health risk, so true Iigures are
unknown
BeneIits
Bt corn means plants produce their own insecticides thereIore insecticides don't need to be sprayed
with chemicals
Herbicides can be sprayed on herbicide resistant plants to kill weeds but not crops
General pest resistance
Only targets insects that eat crop whereas pesticides target all organisms
Cold and drought resistance
All lead to improved Iarming
In turn leads to cheaper Iood and greater quantities oI it
Which then reduces world hunger and improves world health
Hazards
Environmental
Reduces eIIectiveness oI pesticides; insects become resistant to toxins
No long term studies oI things such as Bt ingestion have been undertaken
Loss oI biodiversity Iarmers Iavour one kind oI crop which are all very genetically similar
May transIer genes to non-target species, such as herbicide resistant plants and weeds
crossbreeding. To prevent this one could:
could create sterile male plants
create buIIer zones oI non-GM crops around GM crops
II gene was to cross into wild species, may kill insects which usually keep it in check
Health
May introduce new allergens (e.g inserting a nut gene into a plant)
Can have unknown health risks as (noted beIore) no long term studies have been undertaken
(DDT good example oI where this has happened beIore)
Economic
Eliminates competition GM seeds patented
Farmers may be Iorced to buy new seeds every year
Organic Iarmers may lose certiIication to label Iood as organically grown iI pollen Irom GM
crops contaminates their crop
A delicate balance oI hazards and beneIits is needed to determine whether GMO's should be used or not,
with each and every case being diIIerent.
9.4 9.4 The Search for Better Health The Search for Better Health
9.4.1 What is a healthy organism?
9.4.1.1 Discuss the diIIiculties oI deIining the terms health` and disease`
Health is diIIicult to deIine; the WHO deIines health as 'a complete state of phvsical, mental and social
wellbeing, not merelv the absence of illness or infirmitv`.
However to understand health one must Iirst understand disease. Disease can be deIined as 'anv
condition that disturbs the normal functioning of the bodv`.
Some deIinitions say health is the ability Ior someone to achieve their Iull genetic potential however iI
we consider genetic disorders such as cystic Iibrosis, a person with such a condition is considered to have
a disease. Except with proper medical intervention this person can still achieve their individual genetic
potential.
It is diIIicult to deIine health and disease because, according to the scientiIic deIinitions, it is possible Ior
a person to be healthy and have a disease at the same time. It is also diIIicult because the terms used in
general conversation oIten have diIIerent meanings to the scientiIic deIinitions.
9.4.1.2 Outline how the Iunction oI genes, mitosis, cell diIIerentiation and specialisation assist in
the maintenance oI health
Genes code Ior proteins which have many Iunctions in the body; they may be structural proteins
which would strengthen bones and muscle, or enzymal proteins which assist in metabolic processes.
Mitosis - is a process involved in the growth, repair and maintenance oI body cells. When tissues are
damaged, mitosis produces new cells to repair or replenish the body.
Cell differentiation cell diIIerentiation is important because it allows body cells to specialise and so
perIorm their required Iunctions more eIIiciently.
9.4.1.S1 Use available evidence to analyse the links between gene expression and maintenance and
repair oI body tissues
When tissues become damaged chemicals are released to let the body know a problem has occurred.
This then leads to the production oI new cells, to maintain and/or repair the body tissues. 'Gene
expression switches on the genes which produces polypeptides that tell the new cells to begin Iorming to
repair the damaged area. Gene expression also regulates cell diIIerentiation, allowing cells to become
more specialised Ior growth and maintenance.
9.4.2 Over 3000 years ago the Chinese and Hebrews were advocating cleanliness in food,
water and personal hygiene
9.4.2.1 Distinguish between inIectious and non-inIectious disease
An infectious disease is a disease caused by a PATHOGEN
A pathogen is an organism which invades a healthy organism.
InIectious diseases may be spread by air, water, contact, food or vectors.
A non-infectious disease can be genetic, environmental or nutritional not caused by a pathogen.
9.4.2.2 Explain why cleanliness in Iood, water and personal hygiene practices assist in control oI
disease
Cleanliness in Iood and water, as well as personal hygiene all assist in the control oI disease by reducing
the number oI pathogens we are exposed to. Most harmIul organisms are microscopic and can enter the
body through any body opening. Food and water provide an easy way Ior micro-organisms to enter our
bodies. ThereIore by minimising the number oI inIectious pathogens in our Iood and water we minimise
the chance oI inIection. Good personal hygiene also ensures that body openings, including broken skin,
are clean, reducing the number oI microorganisms that can enter our system.
Several ways to prevent disease:
modifying the environment; make it less suitable Ior pathogens to grow. e.g draining swampy
ground or spraying insecticides
sanitation; sewage treatment, water treatment. Disrupts liIe cycle oI pathogen
behavioural control; adopting 'saIe' behaviours, e.g wash hands, saIe sex, quarantine
9.4.2.3 IdentiIy the conditions under which an organism is described as a pathogen
Not all microorganisms are considered pathogenic; they are only pathogenic iI they cause some Iorm oI
disease. An organism outside the body can be considered a pathogen iI it was to cause a disease when
inside the body.
9.4.2.S2 Gather process and analyse inIormation Irom secondary sources to describe ways in which
drinking water can be treated and use available evidence to explain how these methods reduce
the risk oI inIection Irom pathogens
First stage: removal oI particulates and larger objects done via Iiltration. A substance is added to
coagulate all the Iree particles in the water and this is then removed Irom the water
Second stage: Inactivation oI microbes Chlorine is usually used as it kills all the microbial organisms in
the water
This is an eIIective way oI reducing risk oI inIection as it kills (in most cases) almost 100 oI microbial
organisms in the water.
9.4.2.S1 IdentiIy data sources, plan and choose equipment or resources to perIorm a Iirst hand
investigation to identiIy microbes in Iood or water
AIM: To investigate microbes Iound in Iood and water
RISK ASSESSMENT:
Ethanol is Ilammable, wear saIety glasses
Wash hands to avoid spread oI disease
Seal potentially harmIul cultures with paraIilm and do not open aIter incubation
METHOD:
1. Keep one agar plate reserved as a control
2. Fill a clean beaker with tap water and swab some oI the water onto an agar plate, then seal it
3. Swab some water Irom a classmates drink bottle onto an agar plate and seal it also
4. Dip a cotton bud in boiled water and shake oI excess water
5. Gather several Iood samples (yoghurt, grape, etc.) and swab an area oI the Iood that looks like it
contains micro-organisms with the cotton bud
6. TransIer these swabs o individual agar plates and seal them
7. Incubate Ior 2-3 days
8. Remove and observe agar plates and draw pictures oI the colonies
9. Get teacher to dispose oI plates saIely
RESULTS:
Bottled water would have become contaminated from mouth of drinker, tap water
is clean as expected, grape colonies are from natural veast which grows on grapes.
9.4.3 During the second half of the nineteenth century, the work of Pasteur and Koch and
other scientists stimulated the search for microbes as causes of disease
9.4.3.1 Describe the contribution oI Pasteur and Koch to our understanding oI inIectious diseases
Louis Pasteur - disproved the theory oI spontaneous generation.
Robert Koch showed that microorganisms could cause disease
Pasteur demonstrated that microorganisms in the air were responsible Ior Iood spoilage; liIe didn't
simply arise Irom non-living materials. He perIormed an experiment whereby two sterile broths were leIt
out Ior organism's to grow in, however one was sealed oII Irom the outside environment via a swan
necked Ilask. The broth that was not sealed oII began to grow organism's in it whereas in the other Ilask
all the microorganisms were caught in the swan neck. This showed that organisms do not simply grow
Irom nothing, but come Irom the air.
Koch developed Iour postulates linking microorganisms as the cause oI disease.
1. The organism believed to cause the disease must always be present within the host organism when
the disease occurs
2. The organism must be isolated Irom the host and grown in pure culture
3. When a healthy host is inIected with the pure culture they must develop the disease
4. The suspected organism must then be re-isolated Irom the inIected host organism
9.4.3.2 Distinguish between:
prions
viruses
bacteria
protozoans
Iungi
macro-parasites
and name one example oI a disease caused by each type oI pathogen
5 main kinds oI infectious diseases
prions; e.g BSE, CreutzIeldt-Jakob
viruses; e.g inIluenza virus
bacteria; e.g cholera
protozoans; e.g malaria
fungi; e.g thrush
macro-parasites; e.g intestinal worms
PRIONS
A prion is an inIectious protein. It has an unusual shape allowing it to bind to a normal protein, causing
it to Iold incorrectly and Iorm a new prion. Both prions then attack more proteins.
Characterised by the spongy degeneration oI the host's brain.
Spread by eating contaminated meat, also resistant to normal sterilisation methods so can be spread on
surgical instruments. Some cases in humans are 'sporadic' and come Irom a mutation in the gene coding.
VIRUSES
Viruses require a living cell to reproduce, they are composed oI DNA/RNA and coated by a protein.
Usually spread by contact between people however can be airborne. Viruses Iind and attack a cell, they
then hijack the cell and make it make more oI the viruses. Viral diseases cannot be treated with
antibiotics, however some can be prevented by immunisation. Smallpox is the only viral disease that has
been oIIicially eradicated Irom the human population.
BACTERIA
Reproduce very quickly and can produce toxins. DiIIerent Irom viruses as they reproduce independently
do not need another cell to reproduce Ior it. Some can be treated through antibiotics however antibiotic
resistance is an emerging problem. Very Iew oI the many species oI bacteria that exist are considered
pathogenic (in Iact most oI the body's normal microIlora are bacteria). They inIect a host in order to
exploit the Iood oI the host's tissues.
PROTOZOANS
Protozoa are single-celled eukaryotes. Under adverse conditions some protozoans produce a protective
capsule called a cyst, which allows the organism to survive outside a host until such a time that it can
reinIect a host. Amoebae protozoans can be transmitted by direct contact with a cyst, either ingestion or
transIer across a mucous membrane. They oIten have complex liIe cycles involving several hosts.
FUNGI
Include moulds, yeasts and Ileshy Iungi. Only about 100 species are pathogenic to animals, however
1000s are to plants. Most Iungi live oII dead material however some are parasitic in nature. Some are
harmless in their normal habitat but pathogenic in a host. MicroIlora imbalances can be induced by a
weakened immune system or antibiotic use, increasing the chance oI Iungal growths.
MACRO-PARASITES
Parasites which are also classiIied as animals. Includes intestinal worms, liver Ilukes, dust mites.
Insects, apart Irom being ectoparasites, may act as vectors, carrying pathogenic organisms between
hosts (Anopheles mosquito). Endoparasites (such as Ilatworms) cause disease directly and are
specialised to live in a host. OIten have no means oI locomotion and complex reproductive systems.
9.4.3.S1 PerIorm a Iirst hand investigation to model Pasteur's experiment to identiIy the role oI
microbes in decay
AIM: To emulate Louis Pasteur's experiment on the role oI microbes in decay and the disproving oI the
theory oI spontaneous generation
METHOD:
1. Make a 35 : 65-growth medium : water mixture and Iill two separate conical Ilasks
2. Place one Ilask over a bunsen (ensure enclosed shoes, tied back hair and saIety goggles in case oI
spills or splashes)
3. Boil the Iirst Ilask Ior 5 minutes then remove Irom heat and put a robber stopper in the top oI the
Ilask
4. Repeat Ior the second Ilask but do not stopper it
5. Leave Ior several days and observe the amount oI microbial growth. Be careIul with the second
Ilask as some pathogenic organisms may have developed
6. Remove the stopper Irom the Iirst Ilask and leave Ior several more days, record any changes to this
Ilask
RESULTS: The stoppered Ilask had no microbial growth whereas the unstoppered Ilask did, hence
proving microorganisms had entered the Ilask Irom outside in the air and not Irom nowhere.
CONCLUSION:
The second Ilask had growth because it was exposed to the air. The dependent variable was the
microbial growth and the independent was the rubber stopper. This experiment was successIul in proving
microorganisms live in air and that spontaneous generation is a Ialse notion.
9.4.3.S3 IdentiIy data sources, gather process and analyse inIormation Irom secondary sources to
describe one named inIectious disease in terms oI its:
cause
transmission
host response
major symptoms
treatment
prevention
control
MALARIA
Cause Caused by the parasitic Plasmodium protozoa
Transmission The parasite is transmitted through an Anopheles mosquito vector. The vector
mosquitoes blood contains plasmodium sex cells which Iorm cysts in the
mosquitoes stomach lining. When a cyst bursts, they travel to the salivary glands
and into a human hosts blood when the mosquito bites. They then travel to the
human liver and multiply beIore entering red blood cells. AIter inIected red blood
cells burst they cause malarial fever. More gametes are produced and these are
taken up by a mosquito the next time it bites.
Host Response The body's immune system begins to produce antibodies against the Plasmodium
protozoa.
Major Symptoms Fever, shivering, joint pain, vomiting, convulsions and anaemia. Symptoms
generally have a cyclical occurrence oI coldness rigor Iever and sweating
Ior 4 6 hours. The cycle occurs every 2 3 days depending on which
Plasmodium the host is inIected with.
Treatment No eIIective treatment as such, must just treat the symptoms, provide regular Iood
but more importantly water. Also provide electrolyte solutions as salt balances
may be disrupted due to excessive sweating.
Prevention Can take anti-malarial drugs which help boost the immune response. Cover up at
times where mosquitoes come out (dawn dusk), use mosquito bed netting and
insecticides
Control Drain swamps and other mosquito breeding grounds. Spray with insecticides.
9.4.3.S2 Gather and process inIormation to trace the historical development oI our understanding oI
the cause and prevention oI malaria
Mentions oI malaria can be Iound in Chinese, Indian and Egyptian histories. First recorded use oI
the cinchona bark to treat malaria was 1640. in
1717 Lancisi linked malaria with poisonous vapours Irom swamps.
1880 Charles Lavaran discovered malaria was caused by a parasite; no one believed his
theories.
1885 two plasmodium protozoans were discovered
1898 Manson allowed Anopheles mosquitoes which has Ied on malaria-inIected hosts to bite his
son, who developed malaria. Went to places notorious Ior malaria and lived in a mosquito prooI
hut Ior 3 months, remained in perIect health.
Ross Iound gut walls oI Anopheles mosquitoes that had bitten inIected hosts had many small
cysts. Established the link between mosquito and its transmission.
1928 Plasmoquine drug was synthesised, several subsequent drugs invented.
1939 Muller discovered insecticidal properties oI DDT (however now DDT-resistant strains oI
mosquitoes can be Iound).
1948 Tissue Iorms oI the Iour Plasmodium protozoa that cause malaria were Iound, completing
our understanding oI it's liIecycle.
Ways oI reducing the likelihood oI inIection
Bed netting (and soak in pyriethrum)
Altering behaviour (inside at dawn/dusk)
Remove places where water pools
Drain swamps
Vaccinate
9.4.3.3 IdentiIy the role oI antibiotics in the management oI inIectious disease
9.4.3.S4 Process inIormation Irom secondary sources to discuss problems relating to antibiotic
resistance
Antibiotics are drugs which inhibit or kill bacteria. They have diIIering modes oI action, that is, one can
be extremely eIIective against one Iorm oI bacteria but useless against another. Antibiotics cannot be used
against viruses, Iungi, protozoans or macroparasites.
DiIIerent antibiotics have diIIerent eIIects some inhibit cell wall synthesis, some increase cell
membrane permeability, some damage ribosomes.
Many bacteria are needed Ior good health and prevention oI inIection, however antibiotics do not
discriminate between good and bad bacteria.
Antibiotics must be used wisely because the bacteria they are used to kill mutate to resist the drugs
through natural selection, eIIectively creating an entirely resistant population. Hospitals are a strong
'breeding ground' Ior drug resistant bacteria.
There has now emerged some strains oI Staphvlococcus aureus (golden staph) labelled MRSA that is,
multi-resistant Staph. aureus.
IN ORDER TO MINIMISE PRODUCING MORE RESISTANT STRAINS -
DO's
Take the entire course oI antibiotics even when Ieeling better, to ensure all bacteria are killed
Take your antibiotic at the same time each day, so its levels in your system remain consistent
Discuss the prescription with your doctor
Report known drug allergies
DON'Ts
Insist the doctor prescribes antibiotics, they are only helpIul Ior bacterial inIections!
Forget to take it
Share other peoples (due to antibiotic speciIicity)
Ignore unexpected side-eIIects
Believe they will decrease natural immunity
9.4.4 Often we recognise an infection by the symptoms it causes. The immune response is not
so obvious, until we recover
9.4.4.1 IdentiIy deIence barriers to prevent entry oI pathogens in humans:
skin
mucous membranes
cilia
chemical barriers
other body secretions
THE FIRST LINE OF DEFENCE IS PHYSICAL BARRIERS THE FIRST LINE OF DEFENCE IS PHYSICAL BARRIERS
The body has a number oI ways to counter the entry oI pathogens. They physical and chemical barriers
Iorming the Iirst line oI deIence are non-specific.
Skin provides a physical barrier which is rarely penetrated by microorganisms. The skin produces
chemical secretions which inhibit the growth oI bacteria and Iungi. II skin is broken, blood clots seal the
barrier.
Enzymes in tears and mucus break down bacterial cell walls.
Mucous membranes in the respiratory tract trap pathogens.
Cilia in the airways sweep pathogens to the back oI the throat, where they are expelled or swallowed and
digested by the gut.
BeneIicial microIlora can produce antibiotics and act as a physical barrier to harmIul organisms,
however an imbalance Irom illness, antibiotics, stress etc. allow these 'bad bacteria' to move in and inIect.
Once a pathogen gains entry to the body, the second and third levels oI deIence come into action.
Ways in which pathogens can breach the Iirst line oI deIence:
Large numbers overwhelming the Iirst line
Cuts/breaks in skin
Skin contact (ringworm)
Vector bites
9.4.4.2 IdentiIy antigens as molecules that trigger the immune response
9.4.4.4 IdentiIy deIence adaptations, including:
inIlammation response
phagocytosis
lymph system
cell death to seal oII pathogen
THE SECOND LINE OF DEFENCE IS CHEMICAL BARRIERS THE SECOND LINE OF DEFENCE IS CHEMICAL BARRIERS
Also non-specific.
ANTIGENS
An antigen is a Ioreign molecule not normally present in the body. An antigen induces a certain
response Irom the body. They activate the second line oI deIence.
Antigens may be:
part oI the cell wall oI a bacteria the coat oI a virus
toxins produced by a pathogen
Second line oI deIence includes leucocytes, which are involved in the destruction oI pathogens.
- Basophils involved in the inflammatory response. Eosinopils release enzymes next to pathogens.
- Monocytes are immature macrophages.
THE INFLAMMATORY RESPONSE
Attempts to remove pathogen by:
dilating capillaries, increasing blood Ilow and white cells to the area, as well as bringing clotting
Iactors. Allows monocytes to move out oI the blood where they can mature into macrophages
releasing pyrogen, causing the area to become hot making it diIIicult Ior pathogens to survive
Phagocytes (neutrophils, macrophages) are white blood cells which ingest microbes and digest them by
phagocytosis.
Final type oI deIence in second line is cell death. Body kills cells and seals pathogens oII in a cyst in an
attempt to kill it (e.g warts).
Macrophages attach themselves to an antigen Iragment, delivering them to helper T-Cells, activating the
third line oI deIence.
9.4.4.3 Explain why organ transplants should trigger an immune response
Organ transplants trigger an immune response because the body doesn't recognise the cells as being 'selI'.
SelI-recognition is achieved through the MHC genes (major histocompatibility complex). These genes
code Ior molecules which are attached to the surIace oI all body cells (but RBCs), providing a chemical
signature that distinguishes the cell as belonging to that body. Class-I are located on all human cells (excl.
RBCs), whereas Class-II are restricted to macrophages and B-cells.
In an organ transplant, the body does not recognise the cells as being selI and so tries to reject them,
because Ioreign MHC molecules are antigenic. The T-cells lyse the Ioreign cells, macrophages engulI
them and antibodies are released to attack them. To minimise rejection attempts are made to match the
recipients MHC with the donor's as closely as possible, on top oI this immune suppression drugs are also
provided.
9.4.4.S1 Gather, process and present inIormation Irom secondary sources to show how a named
disease results Irom an imbalance oI microIlora in humans
Thrush is a disease caused by the Iungus Candida albicans. This Iungus is a natural organism in the
body, occurring in mouth, respiratory tract and Iemale genital tract. Thrush occurs when there is an
imbalance in the number of Candida albicans cells.
The organisms are usually kept in check by other microIlora such as lactobacilli, however taking
things such as antibiotics or oral contraception and pregnancy can cause an imbalance as the
Candida's competition is killed, allowing them to multiply more rapidly.
9.4.5 MacFarlane Burnet`s work in the middle of the twentieth century contributed to a
better understanding of the immune response and the effectiveness of immunisation
programs
9.4.5.1 IdentiIy the components oI the immune response:
antibodies
T cells
B cells
9.4.5.2 Describe and explain the immune response in the human body in terms oI:
interaction between B and T lymphocytes
the mechanisms that allow interaction between B and T lymphocytes
the range oI T lymphocyte types and the diIIerence in their roles
THE THIRD LINE OF DEFENCE IS A SPECIFIC CHEMICAL BARRIER
As seen beIore, surIace proteins provide a chemical signature that allow cells to be recognised as 'selI'.
Once a macrophage engulIs and destroys a Ioreign organism/toxin, it 'saves' an antigen Iragment Irom this
organism/toxin and places it 'in' the MHC-II protein, which it then presents to a helper T-Cell.
The third line oI deIence is made up oI
Lymphocytes which can be divided up into T-Cells and B-Cells.
Antibodies, which are chemicals produced by B-cells to target a speciIic antigen.
T-Cells come in three Iorms: helper, cytotoxic and suppressor.
B-Cells can be memory or plasma cells.
The macrophage with the antigen Iragment activates the helper T-cell when it presents this Iragment to
it. This stimulates the production oI more helper cells and the chemical 'interleukin-II', which in turn
stimulates production oI B-Cells, cytotoxic T-Cells and memory cells. Memory cells remain in the body
Ior certain lengths oI time, mounting a more rapid response iI the antigen is ever encountered again.
Cytotoxic T-Cells then attack any cells displaying the antigen Iragment that activated them they will
not attack a cell with an antigen that wasn't used to activate them. They then remain as memory cells.
Cytotoxic T-Cells, once attached, release an enzyme called perforin which punches holes in the membrane
oI the antigen source. This process is known as cell mediated immunity.
B-Cells, once activated, diIIerentiate into two kinds oI cells memory cells and plasma cells. Memory
cells remain in the body and rapidly diIIerentiate into plasma cells iI reinIection occurs. Plasma cells
secrete antibodies against antigens, and only live Ior a Iew days (can secrete up to 2000 antibodies per
second). Antibodies are, like CT-Cells, specific to the antigen Iragment that activated them. Once a B-
Cell has been activated it can ONLY produce the kind oI antibody/antigen it was activated Ior.
To activate a B-Cell, it can either come into direct contact with an antigen, or (most commonly), the
helper T-Cell can pass the antigen along to the B-Cell. Antibody response is known as humoral
immunity.
When B- and T-Cells are activated, they divide many times by mitosis, and are genetically identical to
each other. Much oI this immune response theory is credited to MacFarlane Burnett.
ANTIBODIES
Work in several ways:
Neutralisation blocks viral binding sites/coat bacteria, stopping them Irom attacking cells.
Agglutination clumps antigens/bacteria together.
Precipitation brings soluble antigens out oI solution.
These three are Iollowed by phagocytosis.
Complement activation
9.4.5.3 Outline the way in which vaccinations prevent inIection
9.4.5.S1 Process, analyse and present inIormation Irom secondary sources to evaluate the eIIectiveness
oI vaccination programs in preventing the spread and occurrence oI once common diseases,
including smallpox, diphtheria and polio
Immunity can be gained in two ways, naturally or through vaccination.
1. Active immunity is when your body is exposed to the antigen Iragment causing it to produce
antibodies. body develops own antibodies
2. Passive immunity is when the antibodies are passed onto a person via the placenta, breast milk, or
injection. body provided with antibodies
Naturally Acquired Immunity -
Passive: Antibodies pass Irom mother to Ietus via placenta, or to inIant via her milk.
Active: Antigens enter the body when someone catches a disease, has a sub-clinical inIection etc.
(antigen enters in a normal way)
Artificially Acquired Immunity -
Passive: PreIormed antibodies in an immune serum are introduced by injection
Active: Antigens in the Iorm oI weakened or dead microbes are introduced in a vaccination
How does vaccination work?
It tricks your body into thinking it is inIected, however the things introduced into your body are non-
inIectious and more harmless than a real pathogen. This is done by using either a dead or inactivated
pathogen.
Reasons for vaccination .
1. Is cheap
2. OIten lasts a liIetime
3. Avoids debilitating eIIects
4. Prevents the disease...
Reasons against vaccination .
1. Vaccine can have side eIIects (very rarely |1 in 10000 to 1 in 1000000|)
VACCINATION PROGRAMS
Vaccination and Smallpox
Highly contagious viral disease, Edward Jenner developed vaccine, has been eradicated Irom human
population. Only remaining sources are stored in two containment laboratories. In this case vaccination
programs have been very effective.
Vaccination and Diphtheria
Highly contagious bacterial, beIore a vaccination up to 90 oI those inIected died, two thirds oI which
were under 5 years old. Now is very rare and is included as part oI the triple antigen childhood
immunisation program. Also very effective.
Vaccination and Polio
Also called inIantile paralysis, viral disease with no cure. In 1954 Jonas Salk tested a vaccine which had
a 60-70 chance oI preventing the disease. Is now extremely rare in industrialised nations.
9.4.5.4 Outline the reasons Ior the suppression oI the immune response in organ transplant patients
Immunosuppressant drugs are necessary in patients who have had an organ transplant in order to prevent
tissue rejection. This is because the cells have a diIIerent MHC-I gene and are recognised as Ioreign.
However once the immune system is suppressed, the patient is more susceptible to other inIections which
the body could usually deIend against.
9.4.6 Epidemiological studies involve the collection and statistical analysis of large quantities
of data. Such studies assist the causal identification of non-infectious diseases.
9.4.6.1 IdentiIy and describe the main Ieatures oI epidemiology using lung cancer as an example
9.4.6.S1 Gather, process and analyse inIormation to identiIy the cause and eIIect relationship oI
smoking and lung cancer
Epidemiology is the study oI the Iactors involved in the occurrence, prevalence and spread oI disease
within a population. Epidemiologists study both inIectious and non-inIectious diseases as well as
incidents such as car accidents, suicides and work related injuries.
Epidemiological studies are usually used by public health authorities in order to provide inIormation and
strategies to better deal with the causes oI ill health within a population. InIormation is usually compiled
on incidence, prevalence, morbidity rate, mortality rate.
EPIDEMIC DISEASE -
One that has a high morbidity/mortality rate in a given space over a given time (usually short time period).
ENDEMIC DISEASE -
One that has a lower morbidity/mortality rate but persists Ior a long time.
PANDEMIC DISEASE -
A very geographically widespread epidemic.
Epidemiological studies require:
a large sample space,
an assessment oI other Iactors which may inIluence trends oI disease (other than the one being
tested Ior, e.g exercise and diet, environment/location, age, gender)
trends must be the same over a period oI time to establish a cause-eIIect relationship
trend must be repeatable compare groups in diIIerent countries/areas
is risk more pronounced with increased dosage?
Epidemiological studies can be: descriptive, analytical or experimental.
Descriptive study Irequency oI disease, part oI population most aIIected (gender, age, occupation,
marital, socioeconomic stats), location and time period
They are used to develop a proIile oI disease suIIerers and thereIore introduce strategies reducing spread
oI disease.
Analytical study done aIter descriptive. They Iocus on Iinding the cause-eIIect relationship pI the
disease. They Iocus on Iactors which: preceded the epidemic, habits oI suIIerers compared with a control
group. Shown that tobacco smoke causes lung cancer and UVR skin cancer.
Experimental studies test the eIIectiveness oI a particular treatment clinical trials.
EPIDEMIOLOGY OF LUNG CANCER
Lung cancer is a disease oI the lungs. Smoking is the major known cause oI lung cancer and is largely
responsible Ior lung cancers morbidity and mortality rates. Other causes include exposure to chemicals
and radiation. Smoking also, either directly or indirectly causes heart attack, stroke and other cancers.
The cessation oI smoking has immediate eIIects on health and lowers the risk oI developing cancer. This
has been shown through a gradual decrease in the number oI people smoking over 20 year, which was
mirrored by a decrease in mortality rates. An increase in Irequency oI women smoking correlates to an
increase in incidence oI disease in women and vice versa in men.
9.4.6.2 IdentiIy causes oI non-inIectious disease using an example Irom each oI the Iollowing
categories:
inherited diseases
nutritional deIiciencies
environmental diseases
9.4.6.S2 IdentiIy data sources, plan and perIorm a Iirst-hand investigation or gather inIormation Irom
secondary sources to analyse and present inIormation about the occurrence, symptoms, cause
and treatment/management oI a named non-inIectious disease
Not all diseases are caused by pathogens. Ones that aren't are known as non-infectious diseases. They
may be inherited, nutritional, or environmental.
INHERITED DISEASES -
Inherited diseases are those that are caused by abnormalities in genes or chromosomes. Most genetic
disorders are quite rare by comparison to other diseases, eIIecting one person in every several thousand or
million. Genetic diseases are usually inherited Irom parents, but can occur Irom a mutation in the
chromosomes during development.
They may be single-gene disorders or chromosomal disorders. Single gene disorders may be
autosomal dominant/recessive or sex-linked dominant/recessive. Chromosomal disorders may include
translocations, non-disjunctions, deletions or triploidy.
These disorders include Down's syndrome, haemophilia and colour blindness.
NUTRITIONAL DEFICIENCIES -
Nutritional deIiciencies are diseases caused directly or indirectly by a lack oI essential nutrients in an
individual's diet. They are commonly associated with malnutrition. Conditions such as obesity Irom over
eating are also considered nutritional disorders as excessive intake oI some nutrients can cause poisoning.
Some nutritional deIiciencies include scurvy, rickets and beri-beri.
Causes oI deIiciency may be economic (can't aIIord balanced diet), agricultural (some areas do not
produce enough oI the right type oI Iood) or geographical.
ENVIRONMENTAL DISEASE -
Some diseases are caused by environmental Iactors, such as exposure to UVR, pollution and chemicals.
as well as liIestyle habits (obesity, smoking). Some examples oI environmental disease include
cardiovascular disease (atherosclerosis), skin cancers, and lung cancer (exposure to chemicals in
cigarettes).
OCCURRENCE, CAUSE, SYMPTOMS, TREATMENT and MANAGEMENT of
NON-INFECTIOUS DISEASES
DISEASE
OCCURRENCE /
CAUSE
SYMPTOMS
TREATMENT /
MANAGEMENT
G Haemophilia
Sex-linked genetic
disorder. The gene that
controls blood clotting is
Iound on the sex
chromosomes. II a male
receives an abnormal X
chromosome he will
have haemophilia,
women have a backup. It
is rare to Iind women
with haemophilia but it
is possible.
HAEM A - 1 in 5
10000
HAEM B - 1 in 2034K
Person will haemorrhage
Irom minor injuries Ior a
long time or bleed Ior no
apparent reason. They
bleed into joints causing
sever pain, excessive
blood loss and deIormed
joints. In some cases it
can cause death. II
treated well,
haemophiliacs can have
a liIe expectancy oI over
60 years.
Missing blood Iactor is
injected into patient in a
concentrated Iorm to
allow blood clotting.
Genetic counselling
inIorms people oI the
chance oI having a
haemophiliac child and
genetic engineering
made it possible to clone
a sheep whose blood has
a substance which can
treat Haem-B.
E Atherosclerosis
High occurrence in
developed countries.
Caused by narrowing
and hardening oI arteries
by Iatty deposits. Caused
by smoking, high Iat
diets and lack oI
exercise.
Restricts blood Ilow
through arteries, causing
breathlessness & Iainting
as well as loss oI blood
to parts oI the body.
Brain restriction can lead
to stroke. Heart
restriction to heart
attack. Also develops
pains in chest and high
blood pressure.
Surgery is used arteries
unclogged or
replaced. 'Balloon' is
oIten inserted to keep
artery open; drugs may
be taken to lower BP.
Prevention is best
method; includes low Iat
diets, low stress levels,
no smoking and regular
exercise.
N Scurvy
Caused by Vitamin C
(ascorbic acid)
deIiciency. Rarely
present in adults,
although inIants and
elderly more susceptible.
Still widespread in third
world countries.
Leads to Iormation oI
spots on the skin, spongy
gums and bleeding Irom
mucous membranes. Can
lead to death.
Can be prevented by
adequate vitamin c
intake, by having a diet
with Ioods rich in
Vitamin C (many citrus
Iruits). II a person
develops scurvy, it is
simply treated with
Vitamin C intake.
9.4.7 Increased understanding has led to the development of a wide range of strategies to
prevent and control disease.
9.4.7.S3 Gather and process inIormation and use available evidence to discuss the changing methods
oI dealing with plant and animal diseases, including the shiIt in emphasis Irom treatment and
control to management or prevention oI disease
Movement Irom treating disease once occurred to preventing disease Irom occurring.
Evident in agriculture in genetically modiIied crops which are grown to reduce the need Ior pesticide
spraying.
Quarantine is also used to prevent the entry and spread oI disease throughout the country.
An increased understanding oI genetics through the Human Genome Project has led to an increased
emphasis on genetic technologies and genetic counselling. Also an analysis oI gene interaction, variation
and environmental eIIect has contributed to the discovery oI new medicines and treatments.
9.4.7.1 Discuss the role oI quarantine in preventing the spread oI disease and plants and animals into
Australia or across regions oI Australia
9.4.7.S2 Process and analyse inIormation Irom secondary sources to evaluate the eIIectiveness oI
quarantine in preventing the spread oI plant and animal disease into Australia or across
regions oI Australia
Quarantine is the isolation Irom the general population oI humans, animals or plants inIected with or
carrying a communicable disease.
It prevents the spread oI any disease during it's incubation period.
In Australia, quarantine is controlled by the Australian Quarantine Inspection Service (AQIS). They aim
to protect:
Australia's agricultural production
the health oI the Australian environment, including that oI Ilora and Iauna
the health iI the human population
How does AQIS keep out unwanted pests?
Detector dogs at airports and shipping yards; they are trained to detect Iruit, vegetables, meat,
plant materials & eggs, as well as soil, seeds & dairy products
Animal/Plant/Person Quarantine; may be kept in isolation Ior a minimum period (the
disease's incubation period) and checked Ior disease beIore release
'sentinel' cattle herds, insect traps; because oI Australia's close proximity to SE Asia, North
Australian quarantine is especially important. Sentinel herds are regularly checked Ior early
warning signs oI diseases e. Japanese Encephalitis. Insect traps are checked Ior things such as
screw-worm Ily & papaya Iruit Ily (these are also used in Iruit-Ily-Iree zones).
Public Awareness Campaigns Steve Irwin 'Quarantine Matters!'
The greatest quarantine risks come Irom: plants, plant products, animals, animal products and soils.
Our stringent quarantine rules have prevented the introduction oI many destructive plant and animal
diseases.
Why do we have such strict quarantine?
Reduces economic hardship to producers
Ensures healthy products that we can sell to a large customer base
Ensures regular harvests, keeping domestic prices lower
Cheaper compared to trying to control an outbreak aIter it happens
QUARANTINE CASE STUDIES
Organism/disease
In Australia
currently,
previously?
Potential damage to
industry /
population
Potential forms of
introduction
Ways to monitor /
restrict
Citrus Canker
Causes lesions on
leaves, stems&
Iruit. AIIects
vitality oI trees,
leaves and Iruit
drop prematurely.
InIected Iruit may
be eaten.
Outbreak in
Emerald in mid
2005, all bacteria
were eradicated;
not currently in
Australia
Potential to
devastate Australia's
citrus industry as
scarred Iruit cannot
be sold. Costs
increase and returns
decrease. Threatens
jobs and income.
Cost to eradicate
$19.42M
BeneIit oI erad.
$105M
Illegal importation
oI inIected plants
into the country
Irom international
sources.
Reported sightings,
quarantined plants.
People are required
by law to report any
sightings oI the
disease. Plants are
quarantined Ior the
viruses incubation
period to ensure
they are clear oI the
disease.
Grape Phylloxera
Caused by an
aphid. Sucks sap
Irom vine roots,
causing swellings
called galls. Gall
decays and
stunts/kills the vine
roots.
Never been
introduced into
South Australia.
SA won't accept
any grape vines
Irom interstate. Is
Iound in the
Hunter Valley,
NSW.
Could potentially
destroy Australia's
grape/wine industry.
(in 1869 in France it
destroyed 75 oI
French vineyards
over 30 years)
Aphids may be
carried in soil,
clinging to vehicle
wheels, Iootwear,
cultivating
equipment, produce
boxes & vine roots.
Same as above, all
plants quarantined.
SA won't accept
importation oI any
vine roots Irom
international or
interstate sellers.
As shown in these examples, AQIS' quarantine methods have been very eIIective in preserving
Australia's produce industries; would be/is equally eIIective in preventing outbreaks oI human disease by
isolating inIected humans.
9.4.7.2 Explain how one oI the Iollowing strategies has controlled and/or prevented disease:
public health programs
pesticides
genetic engineering to produce disease-resistant plants and animals
PUBLIC HEALTH PROGRAMS
Includes vaccination, educational programs, insecticide spraying.
Vaccinations are cheap, easy ways to control inIection; they remove the cost oI hospital treatment and
socioeconomic costs oI preventable death. Insecticide spraying reduced incidences oI malaria and pool oI
inIected people. Educational programmes such as the necessity Ior bed netting in AIrica as well as a
change oI habits reduces the incidences oI Malaria. Other local campaigns include 'Slip, Slop, Slap' and
the 'Quit' campaign. OIten targeted at children so that their habits last a liIetime and so they can past the
message on/be a constant reminder to their parents.
PESTICIDES
Chemicals in agriculture led to increase in overall Iood production (reduced losses through pests). Good
quality, cheap Iood has improved health oI the community.
Pests can be insects, ticks, mites, worms, slugs, snails.
Natural selection leads to pesticide-resistant strains (e.g DDT). Pesticides may also accumulate in body
tissues and last Ior many years with serious health eIIects.
GENETIC ENGINEERING / RESISTANCE
GE is the alteration oI chromosomes by adding/removing genes. This technique is used to produce
disease resistant plants and animals. The gene is spliced out and put into the plant e.g CORN; the plant
now, in eIIect, produces it's own pesticides. e.g the Bacillus thuringiensis
There is concern that GE hosts will escape into the wild and overtake 'natural' species. Could interbreed
with closely related species and pass on their resistance to wild plants. Concern about development oI
resistance in the target pests (likely to happen). The toxins produced by plants, although eIIective at
controlling target pests, may also escape into the ecosystem and aIIect non target species.
CASE STUDY - CATTLE TICK
(Boophilus microplus)
An important external parasite oI cattle
Ticks may survive on pasture Ior 2 4 months
Engorged Iemale drops onto pasture, lays up to3500 eggs
Accidentally introduced to NT in 1872, Iound in WA and QLD, NSW is tick-Iree
Problems
Reduced production due to loss oI blood
Some cattle die young
Total cost to beeI industry ~$150M
Can cause tick Iever (caused by other protozoa
Control
Resistant breeds some breeds almost completely resistant
Paddock spelling Dies without cattle, destock paddocks Ior up to 9 months
Quarantine Movement oI tick inIested cattle is strictly controlled, must be certiIied as tick-
Iree
Vaccination TickGARD PLUS * - 'mashed up' ticks are injected into cows; cow develops tick
antibodies which coat the ticks stomach lining, preventing nutrients Irom being absorbed tick
dies.
CAREFUL
Many ticks resistant to some chemicals used
Some chemicals have long with-holding periods
Chemicals can be very dangerous/expensive to operator
BEST SOLUTION...
INTEGRATED PEST MANAGEMENT
A management system which utilises all suitable techniques in as
compatible a manner as possible and maintains low pest populations.
9.4.7.S1 PerIorm an investigation to examine plant shoots and leaves and gather Iirst hand inIormation
oI evidence oI pathogens and insect pests
AIM: To examine plant shoots and leaves Ior signs oI pathogens including insects, viruses or Iungi.
HAZARD RISK STRATEGY
Bacteria on hands
Insects/macroparasites
Scalpel
Bacteria may be inIectious
Macroparasites may bite or sting
Scalpels sharp, may cut hands
Wash hands immediately aIter
Look Ior insects, saIely remove
Be careIul with scalpel
METHOD:
1. Go out and pick several leaves or shoots oII plants which look as though they have a disease
2. Inspect each sample Ior signs oI disease under a light microscope and record the data with
drawings. Use reIerence books to ID some diseases.
3. When data has been recorded, write a conclusion
4. SaIely dispose oI all plant material and wash hands
RESULTS:
1. How did the plants you examined diIIer Irom healthy plants?
The plants we examined sometimes had some Iorm oI Iungal growth, whereas healthy plants did
not. The discolouration on some leaves may have been caused by viruses or bacteria which could
not be seen. Some leaves had been eaten away however there were no insects present.
2. How do plants deIend themselves Irom disease?
Plants deIend themselves by producing/secreting toxins which inhibit or kill pathogens. Physical
barriers such as spiky leaves or thick cuticles to deIend against macroparasites.
3. What type oI parasites were present?
Bacteria, viruses and macroparasites, however only the latter could be seen without a SEM/TEM.
4. Were you concerned the diseases would be transmitted to you?
Most diseases are species speciIic; as we are too genetically dissimilar to plants it was more than
likely we would not get inIected.
Insect Gall
Leaf eaten bv insect
Fungal growth
A Semi-Comprehensive Guide To
Blood Cells and The Immune System Blood Cells and The Immune System
STEM CELLS (Bone Marrow)
Guide to Terms: Guide to Terms:
Platelets & Erythrocytes (Red Blood Cells) Produced Irom stem cells, platelets used in blood
clotting otherwise no important immune response Iunction
Basophils Release heparin and histamines, two chemicals involved in the Inflammatorv
Response
Eosinophils Produce toxic proteins/enzymes next to macroparasites (e.g worms and Ilukes) to
kill them
Neutrophils Carry out phagocytosis
Monocyte An immature macrophage, circulates in blood, pushes between cells oI the capillary
wall into tissues where it matures
Macrophage a mature monocyte, carries out phagocytosis and presents antigen Iragments to
helper T-Cells
Phagocytosis the engulIing and destruction oI invading pathogens by phagocytes
Lymphocytes B-Cells and T-Cells
B-Cells Involved in humoral immunitv, mature in the bone marrow, migrate to lymphatic
organs. DeIend against: bacteria & viruses. Once a B-Cell is 'activated', it diIIerentiates into
memory cells and plasma cells
Memory Cells - When this cell encounters the antigen that activated it (can be many years
aIter), it rapidlv diIIerentiates into plasma cells
Platelets Basophils Eosinophils Neutrophils Monocytes Lymphocytes Erythrocytes
Macrophages
Phagocytes
T-Cells
Helper Cytotoxic Suppressor
Thymus Gland
B-Cells
Memory Cells
Antibodies
Plasma Cells
IgM IgG IgA IgD IgE
Plasma Cells - Secrete antibodies against antigens. Lives Ior a Iew days, produces approx.
2000 antibody molecules per second. Can only secrete antibodies speciIic to the antigen
Iragment that activated it.
Antibodies A protein made by plasma cells, has two specific binding sites, attaches to an
antigen to destroy it
IgM First circulating antibodies to appear aIter inIection, cause antibodies to agglutinate
(see next section)
IgG Most abundant antibodies, activate complement proteins, pass immunity Irom
mother to Ioetus in placenta or inIant during breast Ieeding
IgA Present in external secretions (tears, saliva etc.) Prevents viruses/bacteria attaching
to the skin
IgD Found on the surIace oI antibody-Iorming B-Cells
IgE Cause the release oI histamine to begin inIlammatory response
T-Cells Involved in cell-mediated immunitv Formed in bone marrow but mature in the
thymus glands. DiIIerentiate into Helper, Cytotoxic and Suppressor
Helper Antigens are presented to Helper T-Cells by macrophages, stimulates production
oI more helper T-Cells and secretion oI a chemical which stimulates B-Cell and T-Cell
production. Also activates B-Cells and production oI plasma cells.
Cytotoxic Attach themselves to, and destroy pathogen by releasing perforin which
punches holes in the cell membrane
Suppressor Turns oII the immune response when antigen is no longer present
Antibodies Antibodies
A protein created by plasma cells, has two speciIic binding sites
Purple: Small variable portion that can be rearranged to Iorm an
estimated 100 million combinations
Blue: Constant to all antibodies
How Antibodies Inactivate Antigens
Neutralisation Antibody binds to the antigen, blocking
essential parts oI the molecule which are needed Ior survival,
such as viral binding sites
Agglutination Several antigens are clumped together
Precipitation - Soluble antigens can be precipitated out,
destroying their activity
Complement Activation - The complement system is a group oI 20 proteins which act in a
cascade oI reactions, one protein causes the production oI another. The Iinal protein embeds itselI
in the bacterial cell wall, Iorcing it to burst
These 3
all make
phagocytosis
easier
9.7 9.7 Genetics: The Code Broken? Genetics: The Code Broken?
9.7.1 The structure of a gene provides the code for a polypeptide
9.7.1.1 Describe the processes involved in the transIer oI inIormation Irom DNA through RNA to the
production oI a sequence oI amino acids in a polypeptide
See: 9.3.4.2, 9.3.4.3, 9.3.5.S1
9.7.1.S2 Process inIormation Irom secondary data to outline the current understanding oI gene
expression
Gene expression reIers to how the a gene shows itselI via some observable phenotype.
However, some 'expressions oI genes cannot be observed, such as those that regulate cell activity or
produce an enzyme.
At the most basic level, gene expression is when a gene works to produce a polvpeptide (transcription,
translation).
Genes are not always expressed, as proteins are not always needed within a cell. ThereIore some genes
can be switched on or oII depending on environmental pressures, usually by some means that prevents
transcription onto mRNA. This is called gene suppression.
9.7.2 Multiple alleles and polygenic inheritance provide further variability within a trait
9.7.2.1 Give examples oI characteristics determined by multiple alleles in an organism other than
humans
We learnt that alleles are diIIerent Iorms oI the same gene (i.e tall or short pea plants). Multiple alleles
are when there is 3 or more diIIerent alleles, such as human blood types (A, B and O).
Examples oI multiple alleles in organisms other than humans include:
coat colour in mice
eye colour in Drosophila melanogaster Iruit Ilies (approximately 12 colours?).
9.7.1.S1 Choose equipment or resources to perIorm a Iirst-hand investigation to construct a model oI
DNA
AIM: To build a model DNA strand and assess its strengths and its limitations.
METHOD:
1. Cut two pieces oI string 60cm long each.
2. Tie a piece oI 'wagon wheel pasta to one end oI each piece.
3. Add a piece oI tube pasta Iollowed by a wagon wheel all the way to the end oI the piece oI string;
at the end tie oII a Iinal wagon wheel do this Ior both pieces.
4. Get 4 diIIerent coloured pipe cleaners and twists the ends oI two diIIerent ones together (e.g red
and blue, green and yellow) and keep these colour pairs the same Ior the rest oI the prac.
5. Make up as many pairs as necessary.
6. Get one pair and tie the end oI it around the Iirst tube pasta on one string piece, and tie the other
end around the Iirst tube pasta on the other string piece. Continue this Ior the rest oI the string
pieces.
STRENGTHS Wagon wheel represents phosphate, tube represents sugar, pipe cleaner represents base.
This model gives a good representation oI the structure oI DNA. It also shows us base pairing rules, that
is, A always with T and G always with C (red/blue green/yellow).
WEAKNESSES It does not show us the tight helical nature oI DNA (10 base pairs Ior every turn oI the
helix) and it does not show us how or why base pairing occurs (hydrogen bonds).
It gives a strong basic understanding oI DNA, but to understand the complexities oI it Iurther research is
needed.
9.7.2.2 Compare the inheritance oI the ABO and Rhesus blood groups
9.7.2.S1 Solve problems to predict the inheritance patterns oI ABO blood groups and the Rhesus Iactor
In humans, there are three blood groups, which can occur in Iour ways:
A (I
A
) (can be homozygous or heterozygous)
B (I
B
) (can be homozygous or heterozygous)
O (i) (must be homozygous)
AB (co-dominant I
A
and I
B
)
In addition to this there is a 'Rhesus Iactor, which either exists or doesn't, this gives the positive or
negative parts oI the blood type.
Due to the second Iactor, variation within a species in greatly increased.
For these problems, we must use dihybrid crosses (these are explained a bit later on, but are pretty easy to
understand).
Q1. A person with blood type A (heterozygous Ior both) mates with another person oI the same
genotype. What possible oIIspring could be produced?
The genotypes would both be: I
A
i Rr
Possible gametes Ior both are thereIore: I
A
R, iR, I
A
r, ir
I
A
R iR I
A
r ir
I
A
R I
A
I
A
RR I
A
i RR I
A
I
A
Rr I
A
i Rr
iR I
A
i RR ii RR I
A
i Rr ii Rr
I
A
r I
A
I
A
Rr I
A
i Rr I
A
I
A
rr I
A
i rr
ir I
A
i Rr ii Rr I
A
i rr ii rr
Possible oIIspring: A, A, O, O
9.7.2.3 DeIine what is meant by polygenic inheritance and describe one example oI polygenic
inheritance in humans or another organism
9.7.2.S2 Process inIormation Irom secondary sources to identiIy and describe one example oI
polygenic inheritance
Polygenic inheritance is when one characteristic or phenotypic trait is determined by more than one
pair oI genes, such as human skin colour which is controlled by 4 (possibly more) genes.
Polygenes show a continuous variation (like in skin colour), as opposed to two distinct phenotypes (such
as dark or light).
Some variation is due to environmental Iactors, however iI the environmental Iactors were constant,
there would still be continuous variation.
Skin colour in humans is caused by several genes. Assume that the alleles A, B and C control dark
pigmentation (more melanin produced and the alleles a, b and c control light pigmentation (less melanin
produced). This is not to say one is dominant over the other, just that the more lowercase equals less
melanin and the more uppercase equals more melanin.
II two people oI 'equal melanin are crossed (AaBbCc x AaBbCc) we see an enormous variety oI skin
pigmentations are possible.
The more genes that control a characteristic, the more possible gene combinations and phenotypes exist.
9.7.2.4 Outline the use oI highly variable genes Ior DNA Iingerprinting oI Iorensic samples, Ior
paternity testing and Ior determining the pedigree oI animals
DNA fingerprinting is a method used to identiIy individuals based on their genetic makeup. Much oI
our human DNA which has no known Iunction, varies greatly between individuals. Sections oI our DNA
are known as 'short tandem repeats, that is, they are the same segment oI bases repeated over and over.
This inIormation can be used to make a DNA proIile because what diIIers between individuals is the
number oI times these 'tandem sequences actually repeat. DNA is cut up using restriction enzymes and
then separated by a gel using an electric Iield (the process is called electrophoresis). Electrophoresis
separates the diIIerent samples oI DNA based on their size, it is then stained and turned into a 'bar code
like image. Because the repeat sequences are diIIerent Ior each person (except in the case oI identical
twins), a Iingerprint unique to one individual can be made.
DNA Iingerprints can then be used in paternity cases, animal pedigrees and crime scene
investigations.
Because halI oI our DNA comes Irom our parents, in a paternity case the child's DNA can be compared
with the alleged Iather; iI there is an approximately 50 match, then the alleged Iather must be the real
Iather.
This same technique can be used to ensure that when buying the supposed oIIspring oI prized animals,
the buyer is not being scammed and the animal is the true oIIspring oI the prized parents.
A DAA Fingerprint
9.7.3 Studies of offspring reflect the inheritance of genes on different chromosomes and genes
on the same chromosomes
9.7.3.1 Use the terms 'diploid and 'haploid to describe somatic and gametic cells
'-ploid reIers to the number oI copies oI each chromosome in a biological cell. The preIix determines
the number, whereby ~di- is two and ~ha- is one (tri- is 3, tetra- is 4).
So when something is reIerred to as a 'diploid organism, it means chromosomes always appear in lots
oI 2 (humans are diploid, with 23 pairs oI chromosomes).
Somatic cells (body cells) are diploid, however during meiosis, the diploid parent cell divides to Iorm 4
haploid daughter sex cells (gametes). This means that all the chromosomes in human sex cells have 23
single chromosomes (not pairs); this is so that during Iertilisation, the correct number oI chromosomes is
restored.
9.7.3.2 Describe outcomes oI dihybrid crosses involving simple dominance using Mendel's
explanations
9.7.3.3 Predict the diIIerence in inheritance patterns iI two genes are linked
9.7.3.S1 Process inIormation Irom secondary sources to analyse the outcome oI dihybrid crosses when
both traits are inherited independently and when they are linked
9.7.3.S2 PerIorm a Iirst-hand investigation to model linkage
Previously we only did inheritance with one characteristic. Dihybrid crosses are when we consider the
inheritance oI two characteristics. Dihybrid crosses are perIormed in exactly the same way as
monohybrid crosses, except there are more gametes, hence more possible genotypes and hence a bigger
punnet square.
During the Iormation oI gametes, the two alleles responsible Ior a trait separate (they are later
recombined at Iertilisation).
Using Mendel's peas as an example, round peas (R) are dominant over wrinkled (r) and yellow peas (Y)
are dominant over green (y). When two heterozygous Round-Yellow (RrYy) plants are crossed, the
possible gametes are: RY, Ry, rY, ry. II this is put into a punnet square we can predict the inheritance
patterns .
RY Ry rY ry
RY RRYY RRYy RrYY RrYy
Ry RRYy RRyy RrYy Rryy
rY RrYY RrYy rrYY rrYy
ry RrYy Rryy rrYy rryy
We see that the ratios oI:
RoundYellow : RoundGreen : WrinkledYellow : WrinkledGreen
are..
9 : 3 : 3 : 1
NOTE: this ratio is only in a dihybrid HETEROZYGOUS x HETEROZYGOUS cross.
However when scientists began doing these crosses, they did not always get these ratios. Two British
scientists Bateson and Punnet experimented with the genes involved in Ilower colour and pollen grain
length. (Long pollen grains are dominant (L) and purple Ilowers are dominant (P)).
Bateson and Punnet took pure breeding lines (LLPP and llpp) and crossed them producing all LlPp as
expected. They then crossed LlPp x LlPp, expecting the ratio oI 9:3:3:1. They Iound they got roughly 3
purple-long to 1 short-red. This is because the genes Ior pollen length and Ilower colour were linked, that
is, the genes were on the same chromosome.
Because they were linked they did not get separated during meiosis. So instead oI Iorming Iour gametes,
the plants only produced 2: P-L and p-l (writing them in the Iorm oI AB denotes a physical join, use
this when writing about linked characteristics). Hence when they were crossed. It was as iI they were just
crossing one characteristic, producing the 3:1 ratio.
PL
pl

PL
pl
Gametes are PL and pl
PL
pl
PL
PL
PL
PL
pl
pl
PL
pl
pl
pl
This shows the 3 purple-long to 1 red-short inheritance.
'A Iirst hand investigation to model linkage see 9.3.3.S1, use linkage not crossing over.
9.7.3.4 Explain how cross-breeding experiments can identiIy the relative position oI linked genes
Bateson and Punnet Iound a roughly 3:1 ratio oI purple-long to red-short, however there were a small
number of purple-short and red-long. This inconsistency was accounted Ior through crossing over.\
In some cells where crossing over occurred, the gametes Pl and pL were Iormed, which meant a small
number oI oIIspring were purple-short and red-long.
II genes are Iar apart, it is more likely crossing over will take place than iI they are close together. Using
the number oI unexpected results, we can calculate the relative distance oI two genes on a chromosome.
In order to do this we must cross a heterozygous parent (AB/ab) with a homozygous recessive parent
(ab/ab).
Note that to get crossing over you don't need hetero:vgous x homo:vgous, you only need them iI you are
measuring the distance between the genes.
e.g Say a heterozygous purple-long was crossed with a homozygous red-short. We would expect:
PL
pl

pl
pl
PL
pl
p-l
PL
pl
pl
pl
pl
PL
pl
pl
pl
That is, a 1:1 ratio between purplelong and redshort. Instead we get...
106 PurpleLong
97 Red-Short
33 PurpleShort
42 RedLong
The presence oI unexpected phenotypes means crossing over has occurred, and to calculate the distance
we use the equation:
Crossover Jalue
No. of unexpected tvpes
Total offspring
100
3342
280
10026.8 units
This is only a relative distance, showing how Iar apart genes are positioned in relation to each other, not
an absolute measure.
9.7.3.5 Discuss the role oI chromosome mapping in identiIying relationships between species
Chromosome mapping can be used to compare difference species genome in order to estimate
evolutionary distance. II two species are very closely related, then their chromosome maps will be very
similar (humans and chimpanzees 98 similar, suggesting a common ancestor). However chromosome
maps produced by recombination percentages does not completely represent a chromosome. These sorts
oI maps only provide relative distances, not absolute ones.
9.7.4 The Human Genome Project is attempting to identify the position of genes on
chromosomes through whole genome sequencing
9.7.4.1 Discuss the beneIits oI the Human Genome Project
9.7.4.2 Describe and explain the limitations oI data obtained Irom the Human Genome Project
The Human Genome Project was a collaborative 13-year eIIort to map the entire human genome. The
main goals of the project were to:
IDENTIFY all the genes in human DNA
DETERMINE the sequence oI our approx. 3 billion base pairs
STORE all this inIormation
IMPROVE tools Ior analysis
TRANSFER related technologies to the private sector
ADDRESS the ethical, legal and social issues
Many benefits came with the completion oI the Human Genome Project; it greatly assisted in the
identiIication/cause oI certain genetic diseases, which allowed Ior genetic testing techniques to expand
and become more useIul. Many diseases could now be diagnosed, predicted, detected and interrupted iI
caught early enough.
The HGP revolutionised health care in this way, and also through the continuing development oI gene
therapy techniques; more emphasis was placed on establishing risks and preventative medicine, rather
than treating a disease aIter the person is aIIected by it. This study also showed that uncontrolled cell
division was what caused cancerous growths. On top oI this the HGP data allowed Ior better matching
techniques Ior organ donors and recipients and more inIormed genetic counseling.
Other beneIits oI the project were in the Iields oI Iorensics and anthropology, in that more accurate DNA
Iingerprints could be generated Ior use in convictions, exoneration and identiIications. The data was also
used to show the evidence oI human evolution and migration.
There were however many limitations to the data produced during the project.
LiIe is much more complex than a sequence oI base pairs, the DNA RNA idea is only a simple
representation oI the relationships between a whole organism and the products produced in cells
Genes are Iar more complex than data indicated much oI our DNA is made oI non-coding
regions (9.7.2.4), and many genes code Ior more than one protein
The data does not show the Iunctions oI many genes, which unIortunately are still unknown
Every human beings genome is diIIerent, however minutely
Data did not show how genes respond to environmental Iactors
The project also brought with it many ethical, legal and social issues, including:
Fairness in use oI genetic inIo Will it cause discrimination? (insurance companies etc.)
Privacy/conIidentiality Who should have access to YOUR genetic information?
Psychological impact How will the info affect a person and societvs perception of them?
Reproductive issues Will there be adequate genetic counselling?
Uncertainties Will the results of genetic tests be 100 accurate?
Commercialisation How will patents on genes affect data accessibilitv?
9.7.4.3 Outline the procedure to produce recombinant DNA
See Core (9.3.5.2).
9.7.4.4 Explain how the use oI recombinant DNA technology can identiIy the position oI a gene on
a chromosome
Recombinant DNA technology can be used to develop DNA probes; sequences oI DNA which bind to
their complementary sequence on the organisms DNA. These probes are generally labelled with an
enzyme, a radioactive tag or a fluoroescent tag. When the DNA is exposed to UV light, the Iluorescent
tag will be exposed, identifying the presence and location of the target DNA sequence.
9.7.4.S1 Process inIormation Irom secondary sources to assess the reasons why the Human Genome
Project could not be achieved by studying linkage maps
LINKAGE MAPS measure the relative distance between two genes and the relative positions oI two
linked genes according to the likelihood that they will be inherited together.
Because human DNA has so many base pairs, there is huge variability in small segments oI DNA, as
well as many overlaps and repetitions. Studying genes via linkage maps is thereIore Iar too complex a
process.
Also because linkage maps are determined by studying percentage chances oI crossing over occurring,
they do not give an accurate picture oI speciIic genes, only relative distances.
9.7.5 Gene therapy is possible once the genes responsible for harmful conditions are
identified
9.7.5.1 Describe current uses oI gene therapy Ior an identiIied disease
9.7.5.S1 Process and analyse inIormation Irom secondary sources to identiIy a current use oI gene
therapy to manage a genetic disease, a named Iorm oI cancer or AIDS
Gene therapy is a technique used to introduce genetic material into a patient who is lacking the gene, in
the hope that the patient will take up the gene and normal Iunction will be restored to the cell.
One disease that is undergoing gene therapy trials is cystic Iibrosis. In CF suIIerers lack a gene which
allows the movement oI ions across cell membranes; this results in thick mucus accumulating in lungs,
leading to inIection and lung damage. II leIt untreated patients have a considerably shortened liIe
expectancy.
Healthy genes are cut Irom healthy organisms with restriction enzymes and cloned in bacteria. They are
then inserted into adeno-viruses which have had their pathogenic DNA removed. Virus vectors are used
because DNA on its own cannot easily cross through cell membranes into the cells; viruses are also used
because they inIect cells with great specificity (only inIect target organs) and are very efficient at
incorporating their own DNA into cells.
Virus vectors can be introduced in two ways: in vivo (viruses directly delivered via spray or intravenous
injection) and ex vivo (cells are removed, modiIied and returned to the body). Treatment Ior CF uses a
nasal spray, whereby the viruses inIect the lung cells and Iorce it to produce the correct protein. There are
oI course issues with this as sometimes the wrong cell is inIected and the body still has an immune
response to the virus particles, reducing their eIIectiveness with each subsequent use.
Gene therapy is still under trial and as yet there have been no 100 successIul tests.
9.7.6 Mechanisms of genetic change
9.7.6.1 Distinguish between mutations oI chromosomes, including
rearrangements
changes in chromosome number, including trisomy and polyploidy
and mutations oI genes, including
base substitution
IrameshiIt
The two main categories oI mutations in both somatic and gametic cells are chromosome mutations
and gene mutations. Also: MISSENSE mutations are when a single amino acid in the chain is changed;
NONSENSE mutations cause and early stop codon, so the entire polypeptide isn't produced.
CHROMOSOME MUTATIONS:
Two main categories
Gene rearrangements and Changes in number
Gene Rearrangements
Deletion is when part oI a chromosome breaks oII and is lost
Duplication is when two copies oI the same section oI chromosome occur
Inversion is where a part oI the chromosome breaks oII, 'Ilips upside down and then
reattaches
Translocation is when a piece oI chromosome breaks oII and reattaches to another, non-
homologous chromosome
Change In Number
~-somy and ~-ploidy
'-somy is when cells have 'x many copies oI the one chromosome (e.g Trisomy 21 is three
copies oI chromosome 21, not 2)
'-ploidy is when cells contain 'x many copies oI every chromosome (e.g a diploid organism
has two copies oI every chromosome)
any organism with more than two copies oI each chromosome (diploid) is generally considered
to be a 'polyploid organism
Both -somy and -ploidy occur Irom non-disjunction of chromosomes, that is, during meiosis
the chromosomes do not separate, so a gamete with more than two copies oI one, all or several
chromosomes is produced
GENE MUTATIONS:
Two main categories
Substitution and Frameshift
Substitution
Is when a single base mutates, causing the wrong AA to be put into the polypeptide chain
Frameshift
Insertion and Deletion - when an extra base is added or a base is removed Irom the gene
Causes a shiIt in every single base pair very bad
e.g THE DOG AND THE CAT ARE RAD . iI one base is removed, say the Iirst E .
THD OGA NDT HEC ATA RER AD . the gene makes no sense.
9.7.6.2 Outline the ability oI DNA to repair itselI
DNA replication occurs throughout our entire lives and mutations in replications are common, so to
combat this DNA contains several mechanisms to repair the mistakes that can be made. There are
approximately 130 genes used to repair DNA, which operate either during replication or continuously to
repair spontaneous damage. These enzymes use the undamaged complementary strand as a template
to Iix and replace the incorrect DNA.
Generally 3 enzymes would be used one to remove the damage, one to insert the new segment and one
to repair the break in the DNA.
9.7.6.4 Distinguish between germ line and somatic mutations in terms oI their eIIect on species
Germ line mutations occur when a zygote is developing or in the Iormation oI sex cells. These
mutations spread throughout the entire organism and can be passed on through generations, which over
time can change the genetic makeup oI the species. One example oI a germ line mutation is haemophilia
in the Royal Family.
Somatic mutations occur in body cells and are localised to a certain place, depending on when and
where the mutation starts. Somatic mutations cannot be passed on through generations, thereIore has no
eIIect on the species. An example oI a somatic mutation is a melanoma or skin cancer.
Aon-Disjunction of Chromosomes
9.7.6.3 Describe the way in which transposable genetic elements operate and discuss their impact on
the genome
Transposable genetic elements, also known as transposons are pieces oI DNA that can move around
the chromosome. They move by either replication or excision.
Excision is when the transposon is cut out and re-inserted in a new location. Replication is when a copy
oI the transposon is made and inserted into a new segment oI DNA (the old piece remains in the same
spot).
Transposons can have drastic eIIects, especially iI they disrupt a vital gene, stopping it Irom Iunctioning.
Transposons were Iirst discovered in corn/maize by Barbara McClintock were she observed irregular
discolouration in the kernels. This was because some time during development, a transposon moved
preventing colour genes Irom being expressed, this resulted in a red/yellow mosaic oI the corn kernels.
Transposons may either activate or deactivate genes, depending on where they jump to/Irom. The role oI
transposons is currently unknown; it is thought they may have some evolutionary signiIicance but this is
uncertain. They do however play a huge role in antibiotic resistance in bacteria.
9.7.6.S1 Process and analyse inIormation Irom secondary sources to describe the eIIect oI one
named and described genetic mutation on human health
Ideal disorder to study is DOWN SYDNROME. Down syndrome, also known as trisomy-21, occurs
through non disjunction oI the 21
st
chromosome during meiosis, resulting in 3 copies oI chromosome 21.
SuIIerers oI down syndrome all have similar physical Ieatures, but the degree oI intellectual retardation
is individually based.
Effect on health
Susceptible to inIection/inIectious disease
Increased risk oI vision and hearing deIects
Chance oI heart abnormalities
Experience a sort oI Alzheimer's
Short stature and poor muscle tone
Delayed development oI motor and cognitive skills
They are all however unique in interests and achievements
Chance oI down syndrome occurring increases signiIicant with mothers age
9.7.7 Selective breeding is different to gene cloning but both processes may change the
genetic nature of species
9.7.7.2 Describe what is meant by 'gene cloning' and give examples oI the uses oI gene cloning
9.7.7.3 Distinguish between gene cloning and whole organism cloning in terms oI the processes and
products
9.7.7.S2 IdentiIy data sources, choose equipment or resources, gather, process and analyse inIormation
Irom secondary sources to describe the processes used in the cloning oI an animal and analyse
the methodology to identiIy ways in which scientists could veriIy that the animal produced
was a clone
Gene cloning is when a speciIic gene or sequence oI DNA is cloned into another organism. The best
example oI this is when the human insulin gene was 'cut out' oI the human genome using restriction
enzymes, and inserted into the genome oI a bacteria. As the bacteria multiply, they produce a colony oI
bacteria working as a human insulin 'Iactory.
The method to produce this is the same method as is used to make a transgenic species in 9.3.5.2.
To insert DNA into animal cells scientists use the process oI 'microinjection, DNA is injected into the
nucleus us oI egg cells/developing zygotes in the hope that the cell will incorporate the DNA into its
genome, however this is only a 'hit and miss' method. Markers are often used, or fingerprints are
created to verify if the animal is a clone.
It is done in the hope that animals may be able to produce human proteins in large quantities, such as
insulin, or even organs. II a human antigen is on the pigs organs, it would not be rejected as quickly as iI it
were pig antigens.
Another method is nuclear transfer, or whole organism cloning. This is when a mothers egg cell is
nucleated (nucleus removed) and DNA is taken Irom a somatic cell oI another. The entire nucleus Irom
the other organism is then inserted into the egg, and the egg is put back into the surrogate mother. The
oIIspring produce is a clone (identical copy) oI the parent cell/organism. Another method oI whole
organism cloning is embryo splitting where a developing zygote is 'splitinto several more cells,
producing identical copies oI the same organism the downside to this however is that you don't know
the speciIic characteristics oI the organism until it is born. Again, to verify the animal is a cone a
comparison of the DNA fingerprints of the parent organism and the clone can be made as they
should be identical.
OIIspring are cloned iI we do not wish to lose desirable characteristics, or iI we wish to increase
populations oI endangered species. However the disadvantages to this are that there have been known
'aging problems. It also oI course reduces the gene pool oI the species, which is vital Ior evolution and
to avoid inbred characteristics.
Cloning plants is Iar simpler, sometimes plant cuttings can be taken and re-potted, and they will grow
into a new (genetically identical) plant. Gene cloning oI plants is slightly more diIIicult; microinjection
cannot be used because the cell wall is too hard and the needle used would break. The most common
method is to instead use a gene gun to shoot beads coated in DNA into the cells (however this also
depends on the cells taking up the DNA).
9.7.7.1 Explain, using an appropriate example Irom agriculture, why selective breeding has been
practised
9.7.7.S1 Analyse and present inIormation Irom secondary sources to trace the history oI the selective
breeding oI one species Ior agricultural purposes and use available evidence to describe the
series oI changes that have occurred in the species as a result oI this selective breeding
SELECTIVE BREEDING
Humans choosing two individuals to mate to produce oIIspring with desirable characteristics.
e.g leaner meat on a cow or creamier milk
Many domestic animals have been bred this way to produce higher quality or quantity Iood.
Domestic horses have been selectively bred Irom wild horses over centuries; this has resulted in a huge
variety oI domestic horse breeds. Many oI these horses were used in agriculture, especially draIt horses
due to their ability to pull heavy loads.
These horses include such breeds as the Shire, Clydesdale, Belgian and SuIIolk which are used Ior
speciIic Iarming purposes, but all involve greater strength, size and ability to pull wagons, ploughs
and drays.
9.7.7.4 Discuss a use oI cloning in animals or plants that has possible beneIits to humans
Best example would be cloning the Bt toxin gene into plants such as cotton and corn, (see 9.3.5).
BENEFITS
Plants produce own toxin, meaning less spraying oI pesticides
Greater Iood production as crops are not destroyed
DISADVANTAGES
No long term studies have been made on the health eIIects oI Bt
or on its eIIect in the environment iI it escapes into nearby ecosystems, it may pass its genes on
to wild plants. These wild plants would then produce the pesticides and kill all the insects that
previously kept it in check
9.7.8 The timing of gene expression is important in the developmental process
9.7.8.1 IdentiIy the role oI genes in embryonic development
Soon aIter Iertilisation embryo begins to develop into a mass oI undiIIerentiated cells.
As embryo develops cells diIIerentiate and become specialised in size, shape and Iunction; this
depends on which genes regulate them.
Activities oI genes are regulated by other genes that control all cell activities such as:
production oI proteins and enzymes at diIIerent times oI development
production oI activators and repressors
Result is that some genes are aIIected and expressed, others are repressed or inhibited.
Genes are turned on or oII according to their position in the embryo, Iunction and age oI the
developing embryo.
9.7.8.2 Summarise the role oI gene cascades determining limb Iormation in birds and mammals
Homeobox genes (or HOX Genes) are the genes which regulate cell function and development. They
produce a ~transcription factor which helps turn genes on or oII, eIIectively regulating polypeptide
synthesis. HOX genes play crucial roles in both early and late development, as seen in Drosophila
experiments where scientists 'messed about with the HOX genes, producing Ilies with legs Ior antennae
or extra pairs oI wings. Because HOX genes are so important, expression occurs in a very ordered and
systematic way. The genes eIIectively tell the cells 'what to become 9what they should diIIerentiate
into), and because this is done in such a speciIic order t is reIerred to as a gene cascade.
GENE CASCADE -
During development an appropriate sequence oI genes is activated to Iorm such things as:
bones muscles nerves blood vessels
As each gene is turned on, substances are produced that activate the next gene in the sequence.
This is repeated and continues as the organism develops.
The head is always the Iirst body part to Iorm, and during head development
genes Ior torso development are switched on, and later limb development.
The gene cascade essentially means:
genes for a certain component (such as a limb) of an organism will not
switch on until the genes for the components preceding them have been switched on.
9.7.8.3 Describe the evidence which indicates the presence oI ancestral vertebrate gene homologues
in lower animal classes
Many HOX genes are shared by large groups oI organisms (Irom insects, to anemones and to humans),
even those very distantly related. This provides strong evidence to suggest HOX genes were one oI the
earliest components oI DNA required Ior liIe to occur.
A group oI HOX genes coding Ior the same Iunction in diIIerent species is called a gene homologue.
HOX genes are sequences oI approximately 180 nucleotides, and are almost identical in many organisms;
such similarity has been established through hybridisation/fingerprinting experiments.
As noted, these genes are arranged in a linear pattern along a chromosome, and these patterns are Iound
in the genomes oI many 'lower class organisms such as arthropods and molluscs, but also in genomes oI
'higher class organisms.
Their similarity across organisms can be observed in transgenic experiments where mammal HOX genes
can be used to regulate the corresponding gene in insects. 'Higher class organisms, having a more
advanced structure, have many HOX genes that 'lower class organisms lack (humans have around 40
known HOX genes).
9.7.8.4 Discuss the evidence available Irom current research about the evolution oI genes and their
actions
The study oI DNA sequences provides strong evidence Ior the evolution oI both genes and organisms.
Previously, amino acid sequences in proteins such as the globin Iamily (Iamily oI proteins used Ior
transporting oxygen around the body in diIIerent organisms), have been used to determine evolutionary
relationships. Studies oI all oI the proteins responsible Ior carrying oxygen suggest an evolutionary pattern
Ior their development.
Studies on mutations in HOX genes show how a minute mutation can suddenly aIIect an entire organism
as its gene cascade is altered. These gene changes can result in dramatic alterations in organisms, leading
to the rapid evolution oI new body structures.
This is evidence Ior both the expansion and diversity oI living organisms and the theory oI punctuated
evolution.
9.7.8.S1 IdentiIy data sources, gather, process and analyse inIormation Irom secondary sources and use
available evidence to assess the evidence that analysis oI genes provides Ior evolutionary
relationships
Many identical HOX genes expressed in vertebrates and invertebrates patterns show genes
controlling position/timing oI organ/body development evolved early
Mammals have 38-40 HOX genes, share many Ieatures oI same type oI gene in Iruit Ilies
Radiation can change DNA, cells have evolved mechanisms to repair DNA damage. Genes Ior
DNA repair are near identical Irom yeasts through to humans
In photosynthetic plants, algae and bacteria, the Iunction and structure oI the protein is near
identical
IMAGE SOURCES
http://www.mun.ca/biology/scarr/F14-03DNAIingerprint.jpg
http://www.biologycorner.com/resources/crossingover.jpg
http://publications.nigms.nih.gov/thenewgenetics/images/ch1meiosis.jpg
http://www.genetic-diseases.net/wp-content/uploads/2007/03/trisomy21c.jpg
http://t1.gstatic.com/images?
qtbn:ioT9PXQGjo2MMM:http://www.sciencegeek.net/Biology/review/graphics/Unit8/Antibody.giI&t
1
http://waynesword.palomar.edu/images/transptr.giI
http://knol.google.com/k/-/-/BUxWT11X/wnmpHw/Trisomy202120highlighted.tiI
http://Iig.cox.miami.edu/~cmallery/150/gene/c16x6base-pairs.jpg
http://www.zoology.ubc.ca/~bio336/Bio336/Lectures/Lecture5/pentadactyl.jpg
http://triangulations.Iiles.wordpress.com/2010/01/comparativeembryo.jpg
http://www.hsc.csu.edu.au/biology/core/blueprint/932/image002.giI
http://www.pbs.org/wgbh/nova/photo51/images/pict-1951photo51.jpg
http://1.bp.blogspot.com/9mNHNOMqaqM/SXR0o2ZHIAI/AAAAAAAACEE/sONIKwRKFM/s400/
GeneticallyEngineeredSalmon2.jpg
http://places.mongabay.com/southamerica/eatenleaI.jpg
http://www.joensuu.Ii/biologia/nyman/InsectsOnAspen/Packed.Phyllocoptes.populi.and.Aceria.varia.Pop
ulus.tremula.Oulu.16.6.2007.jpg
http://www.plantpath.iastate.edu/pdc/Iiles/Image/lilacleaIspot.jpg
http://tigger.uic.edu/classes/phys/phys461/phys450/ANJUM02/codontable.jpg
http://oregonstate.edu/instruct/bb331/lecture12/Ii5p20.giI
http://Iaculty.irsc.edu/FACULTY/TFischer/bio20120Iiles/protein20synthesis20overview.jpg
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HSC BIOLOGY

Each of these pracs were also done with computer programs,

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