Professional Documents
Culture Documents
Increased
blood flow
removes CO2
faster
2)
Pressure
receptors in
the
Carotid
Sinus
which are
sensitive to
a
change in
blood
pressure
If blood
pressure is
high,
pressure
receptors
cause
Medulla
Oblongata to
increase frequency of impulses down the Parasympathetic nerve to slow down the heart rate
Feature
Shape
Connections
Visual Acuity
Visual
Pigments
Distribution
Sensitivity
Overall
Function
RETINAL CONVERGENCE:
Stimulation of several rods results in enough Neurotransmitters being released to reach the threshold
value for an action potential in the bipolar neurone in low light
intensities (also called spatial summation)
Why we have a high degree of visual sensitivity in low light
levels:
1) Several rod cells connected to each bipolar cell
2) Additive effect of small amount of light striking several rod
cells
3) This creates a large enough depolarisation to generate
an action potential
Why we have a high degree of visual acuity:
1) Each cone cell connected to an individual neurone
2) Light strikes individual cone cell to generate a separate
action potential
3) Very small area of
retina stimulated,
so very accurate
vision
Reflex Arc/Spinal Reflex
(this is a special pathway
of neurones):
Rapid automatic
response to a
stimulus
Involves just 3
neurones
Does not involve the brain
One neurone is inside the Spinal Cord which is called the Intermediate/Relay Neurone, the other
two neurones are the Sensory and Motor neurone
They are under genetic control and are effective from birth
The sequence is:
Stimulus Receptor Sensory neurone Intermediate neurone Motor neurone Effector
Response
Importance of the Reflex Arc/Spinal Reflex:
1) Brain is not overloaded with situations in which the response would be the same
2) Brain is free to carry out more complex responses
3) Protects from harmful stimuli as it is fast
Neurone: specialised elongated cell that is capable of carrying impulses from one end to the other
Along the axon, there is:
1) Active Transport: Na+/K+ pump; 3Na+ leaves axon and 2K+
enters. Therefore the p.d. of the axon is -70mV.
The splitting of ATP controls this active transport.
2) Facilitated Diffusion: There are Sodium and Potassium ion
channels (INTRINSIC PROTEINS) in the membrane. The Na +
ions come into axon through their channel and K + ions
come out of axon through their channel. There are more K +
channels than Na+ channels. At resting, both channels are
closed, but they still leak.
Therefore, the resting potential is -70mV
The Myelin Sheath: provides protection and electrical insulation
Action Potential:
1) Depolarisation:
Neurone stimulated causing a few chemical-gated Na + channels to open allowing Na+ ions
to diffuse into axon
If stimulus large enough to make enough Na+ move in that the potential changes from -70
to -50 (threshold value), then all the other Na+ channels open that are VOLTAGE gated
More Na+ enter (positive feedback change creating
more change)
2) Repolarisation:
When potential reaches +40mV, then K+ channels
open causing K+ to rush out making potential
negative again
3) Hyperpolarisation:
The K+ channels remain open a little longer causing a
little extra K+ to leave, making the potential -80mV
At -80mV, the K+ channels close and the Na+/K+
pump restores the potential to -70mV using
ATP
All action potentials are the same size
Speed of transmission:
1) Axon Diameter: the larger, the quicker the impulse
WHY?
Less resistance to flow of ions in/out of axon,
therefore depolarisation reaches other parts of
neurone cell membrane quicker. Also this allows
less leakage of ions.
2) Temperature: the higher, the quicker the impulse
WHY?
Ions diffuse faster in facilitated diffusion, also in
Na+/K+ pump is controlled by active transport
which needs ATP from respiration, respiration
depends on enzymes which rely on temperature
3) Saltatory Conduction; action potential goes from one Node of Ranvier to another due to
insulating myelin. Therefore action potentials can only occur at Nodes of Ranvier
Therefore is something has a very low temperature, to compensate, it may have a large axon diameter.
In exam, if asked to explain Depolarisation:
1) Sodium ion channel proteins open allowing Sodium ions to enter
2) Changes membrane potential and reaches
threshold
3) More channel open this is called positive
feedback
In exam, if asked to explain Repolarisation:
1) Potassium channels open
2) Potassium leaves axon
3) Sodium channels close
Always say nerve IMPULSES, never nerve signals,
etc.
All or nothing principle: Nerve impulses cannot
vary in size, instead the strength of stimulus is
indicated by frequency
Purpose of Refractory Period:
1) Separates nerve impulses as another nerve
impulse cannot happen during the
refractory period
2) Limits number of impulses per second
Synaptic Transmission:
Process of transmission across a neuromuscular junction:
1) Nerve impulse depolarises the presynaptic membrane
2) Calcium channels open allowing Ca2+ ions to enter presynaptic membrane
3) Synaptic vesicle move towards presynaptic membrane
4) Release of transmitter across cleft using exocytosis
5) Transmitter attaches to receptor sites on post synaptic membrane
The mitochondria in the slow-twitch fibre will be distributed to the edges of the fibre because:
Allows rapid diffusion of Oxygen
Oxygen is used in the mitochondria
5) Site for Krebs Cycle and
Electron Transport Chain
2) Fast-twitch fibres: FOUND IN FINGER
MUSCLES, ARM MUSCLES
Contract more rapidly and
provide more powerful
contractions over a short
period, therefore for intense
exercise
They are adapted to their role
for anaerobic respiration by:
1) Thicker and more
numerous myosin
filaments
2) High concentration of enzymes used in aerobic respiration
3) High store of Glycogen which can be broken down into glucose, there is a high store
because anaerobic respiration is not very efficient
Muscle Contraction:
This is how a myofibril inside a muscle fibre looks:
The Myosin:
1) has a tail (fibrous protein)
2) has a head (globular protein) which contains ADP
Actin:
A globular protein which has ACTIVE SITES that are covered by a protein called TROPOMYOSIN
When muscle contracts:
1) I-Bands become narrower
2) Z-Lines move closer
together
5) Ca2+ ions cause TROPOMYOSIN protein on the actin to pull away, uncovering the active sites on
the actin
6) Myosin head combines with the active site on the actin through the help of ATP forming
actinomyosin bridge
7) The myosin head change their angle pulling actin filament INWARDS, as they do this, the ADP on
the myosin head is released
8) ATP attaches to myosin head causing it to detach from active site of Actin
9) Ca2+ ions activate enzyme ATPase, which hydrolyses the ATP on the myosin head to ADP whilst
releasing energy to allow myosin head to retain its angle
10)
Myosin head now attaches itself to another active site on the actin that is further along
the actin filament
How you write the above in the exam:
1) Calcium ions bind to troponin
2) This removes the TROPOMYOSIN in the actin, therefore exposing actin binding sites
3) ATP allows myosin to bind to actin
4) As myosin attaches, it changes its angle causing the actin to slide along and also causing the
release of ADP
5) ATP combines to myosin allowing detachment of myosin from the actin binding site
6) ADP combines with myosin therefore causing normal angle to be assumed
7) Phosphocreatine allows regeneration of ATP without respiration by releasing Pi which combines
with ADP to form ATP
Energy for muscle contraction is provided by: hydrolysis of ATP to ADP and Pi
Energy (ATP) is used for:
1) Attachment between actin and myosin
2) Pulling of actin
3) Detachment of myosin heads
4) To move myosin head back to original position
5) Absorption of Ca2+ into endoplasmic reticulum by active transport
Ectotherms (cold blooded): control their body temperature by behavioural means only, NO
physiological cooling/heating mechanism, therefore usually Air Temperature =
Body Temperature
Temperature is detected by hypothalamus which has a heat loss and heat gain centre
The skin plays an important role for regulating temperature as it serves as a receptor.
When we are too cold, heat gain centre in hypothalamus detects this via a receptor in the skin and
inhibits the heat loss centre, then the heat gain centre sends nerve impulses to appropriate part of
the body to do the following:
1) Shivering: creates heat
2) Vasoconstriction: constriction of arteriole walls allows less heat in blood to be lost from skin
3) Making your hair stand on end: traps layer of insulating air
4) Increasing metabolic and respiration rate: achieved via hormones; respiration and
metabolism releases heat
(REMEMBER: metabolic rate is measured by measuring the uptake of Oxygen or
production of CO2)
5) Less blood flow to surface capillaries
You can also add to this list: putting on clothes
There is an advantage and disadvantage that as humans we are able to maintain body temperature
when it is cold:
ADVANTAGE: enzyme reactions are not affected and we are more independent of the environment
DISADVANTAGE: requires more respiration and therefore more loss of energy
Role of blood vessels in conserving heat:
1) Vasoconstriction of arterioles
2) Therefore less radiation
3) Therefore less blood to the surface
When we are too hot, heat loss centre in hypothalamus detects this due to a receptor in the skin via
nervous impulses, and inhibits the heat gain centre, then the heat loss centre sends nerve impulses
to appropriate part of the body to do the following
1) Sweating: cools the body as it evaporates, this is because evaporation removes heat from the
skin, higher rate of sweating leads to lower skin temperature, in the exam if it mentions hot, dry
conditions, think heat loss by evaporation via sweating, sweat leaves the body through
osmosis, this is why humidity causes heat stroke or HYPERTHERMIA, because humid air has a
lot of water particles hence reducing water potential gradient, therefore body struggles to sweat
by releasing water via osmosis, therefore without sweating, the body is burning from inside.
This is also why we drink more when its hot, because when you sweat youre losing water; therefore
water is needed for replacement.
2) Vasodilatation: dilation of arterioles, allowing heat in blood to be transferred to sweat
3) More blood flow to surface capillaries
4) Lowering of hairs causes less insulation
5) Decreasing metabolic rate and respiration rate
You can also add to this list: taking off clothes and migrating, also our ears are designed with a large
surface area so as to allow heat loss
When we measure body temperature, put a thermometer in our mouths instead of on our skin because:
Skin temperature fluctuates more as it is more affected by environment
Why we produce heat during exercise:
1) Respiration is carried out for muscular activity
2) However respiration is INEFFICIENT and therefore releases extra energy as heat
Why we get tired from exercise in hot conditions quicker than we do when it is cold:
1) The heated conditions cause vasodilatation and cause more blood flow to the surface capillaries
2) This results in less blood flow to muscles requiring oxygen
Large mammals with small surface area to volume ratio will heat up a lot quicker than smaller animals
as they have reduced heat loss through skin, therefore large animals will activate their heat loss
centre in hypothalamus a lot quicker than small mammals
As temperature increases, respiration rate increases in ECTOTHERMS, (in us it decreases), this is
because:
1) Increased temperature increases kinetic energy
2) Increased kinetic energy increases rate of reactions
3) More ATP is produced
4) Therefore more ATP used, therefore higher respiration rate required to remake lost ATP
Importance of maintaining a constant body temperature (i.e. importance of homeostasis):
1) If body temperature is too high, the excess heat denatures active sites of enzymes
2) Therefore substrate can no longer form a complex with it therefore reactions are ceased
3) If body temperature is too low, there is too little kinetic energy, therefore molecules move too
slowly
4) Therefore few collisions and thus fewer enzyme-substrate complexes formed, therefore too slow
reactions
The above two situations are both NEGATIVE FEEDBACK
Why the activity of Ectotherms that live in deserts varies so much:
1) Their body temperature varies with that of environment
2) Temperature of desert fluctuates greatly
3) Metabolic reactions inside the Ectotherm are controlled by enzymes
4) Enzyme activity changes according to body temperature
5) Speed of bodily actions dependent on metabolic rate
6) Reptiles seek shade when hot and seek Sun when cool
How the movement of Ectotherms between Sun and shade is related to their body temperature:
The further away the temperature is from the optimum body temperature, the greater the movement
When Ectotherms feel too hot, they may start panting (behavioural) to help cool down, panting helps
because:
1) It causes evaporation of water from lining of mouth
2) Heat transferred from blood
2) Regulating Blood Glucose Levels
Hyperglycaemia: too much glucose in blood, lowers water potential of blood and produces symptoms of
thirst
Hypoglycaemia: too little glucose in blood, produce symptoms of dizziness, tiredness, etc. As the brain
does not have glucose
Pancreas:
Contains Islets of Langerhans that make two types of cells:
-cells produce the hormone glucagon
-cells produce the hormone insulin
These hormones are antagonistic
Second-Messenger hormones: hormones which bind to a receptor on the membrane which then
activates an enzyme
Glycogenesis: the production of glycogen by the polymerisation of glucose
Glycogenolysis: the breakdown of glycogen to release glucose
Gluconeogenesis: the production of glucose from non-carbohydrate sources
If blood glucose levels too high:
1) -cells detect the rise and secret insulin (notice how the -cells are the RECEPTORS and
EFFECTORS.)(-cells are inhibited)
2) Insulin fits into specific receptor proteins on membranes of cells
3) This causes extra glucose channels to open allowing glucose to enter cell via facilitated diffusion
(this is done through the second messenger IRS) and allow it to become metabolised, in Liver
cells, insulin causes IRS to activate glycogen synthase enzyme which causes glucose to be
converted to glycogen (Glycogenesis)
4) Once glucose levels stabilise, -cells reduce secretion of insulin
Type 1 Diabetes: body cannot make insulin; therefore glucose cannot pass from blood into cells,
therefore starving the cells
Type 2 Diabetes: body does not make enough insulin or the receptors are not responding well to
insulin, therefore glucose cannot be fully passed from blood into cells which is the job of
the insulin
Therefore, taking insulin tablets has little effect on type II diabetes as type II diabetes is a failure to
RESPOND to insulin
Usually, diabetic people feel very thirsty, this is because of osmosis of water from cells to the blood
which has lower water potential due to it containing high levels of glucose
How diet and exercise may help maintain low glucose concentration in the blood of a type II diabetic
person:
1) Eat polysaccharides therefore slower digestion, therefore no surge in blood sugar level
2) Exercise increases respiration
If blood glucose levels too low:
1) -cells detect the low levels and secret glucagon
2) Glucagon fits into specific receptor proteins on membrane of cells that CONTAIN glycogen which
are called liver cells
3) Glucagon activates an enzyme that converts glycogen to glucose (Glycogenolysis) and
proteins/lipid to glucose (Gluconeogenesis), glucose can pass through cell membrane, therefore
increasing glucose concentration of blood
4) Once glucose levels stabilise, -cells reduce the secretion of glucagon
REMEMBER: As mentioned, the cells that contain the glucagon receptors are only those which contain
glycogen, one of the places where these cells are found is in the LIVER
The above two situations were examples of NEGATIVE FEEDBACK, the high glucose concentration is
reduced and low glucose concentration is increased through negative feedback.
Usually, after eating something, your glucagon levels will do down as glucose levels will be going up.
Even though people with diabetes have high glucose levels, their glucose levels can still go down
without insulin, this is through:
1) The loss of glucose in urine
2) Glucose gets used up in cell respiration
When a diabetic person takes an insulin injection, and then does not eat a meal, his glucose levels do
not fall dangerously low because:
1) Glucagon is still active which produces glucose using Glycogenolysis
2) Person is not active so little glucose used up in respiration
There is one other hormone that can increase glucose levels:
Adrenaline: 1) Activates an enzyme called Adenyl Cyclase that causes the breakdown of glycogen to
glucose
2)
Glucose produced is then used
for
respiration (this is why you can
run much
faster with adrenaline)
3)
Inhibits enzyme that synthesises
glycogen
from glucose
In any experiment
on blood glucose
concentrations, we
ensure the candidates are not
fed at least 6 hours
before the test because:
1) Glucose in
food would affect results
2) Allows time
for blood glucose level to return
to normal
One example of
Negative and Positive Feedback
working together:
Menstrual Cycle:
There are 4 key hormones (REMEMBER: hormones are globular proteins!):
1) FSH: stimulates development of follicles in ovary, the follicle contain eggs, and stimulates
follicles to produce oestrogen
2) Oestrogen: causes rebuilding of uterus lining and inhibits LH and FSH production (NEGATIVE
FEEDBACK), on day 10, oestrogen reaches a critical point and it stimulate pituitary gland to
release FSH and LH (POSITIVE FEEDBACK)
3) LH: causes one of the follicles in the ovary to release its egg (ovulation-day 14) and stimulates
empty follicle to develop into a structure called Corpus Luteum which produces progesterone,
therefore evidence of ovulation will be a peak in LH and a drop in the diameter of the follicle
which is now empty
N.B. The diameter of a follicle will be largest just before ovulation
4) Progesterone: maintains lining of uterus in readiness for sperm and inhibits production of FSH
and LH from pituary gland (NEGATIVE FEEDBACK)
How you describe Menstrual Cycle in the exam:
1) FSH increase causes follicles to develop
2) Developing follicles produce Oestrogen
3) Oestrogen inhibits FSH
4) High Oestrogen stimulates FSH and LH release from pituary gland
5) LH causes ovulation which results in the production of Progesterone
The corpus Luteum is essential as it produces Progesterone which maintains the uterus lining.
Although fertilisation happens after ovulation, sexual intercourse can take place a day before ovulation
as sperm can survive for a few days.
If egg is not fertilised:
1) Corpus Luteum degenerates and stops producing progesterone
2) No more progesterone causes uterus lining to break and also allows FSH to be released which
causes follicle development, thus restarting the cycle
Evidence that fertilisation has not occurred:
1) Progesterone levels drop
2) Another follicle develops
If egg is fertilised:
1) A hormone called Human Chorionic Gonadotrophin (HCG) acts as a signal to Corpus Luteum to
keep producing progesterone
2) Progesterone maintains uterus lining
How would you know from a graph that fertilisation has occurred/not occurred:
See if the Progesterone concentration has been maintained/ has fallen
How FSH release is controlled by negative feedback (i.e. how do we make sure FSH doesnt keep
rising):
1) FSH stimulates development of follicles which release Oestrogen
2) Oestrogen inhibits FSH
How LH concentration is controlled by negative feedback (i.e. how do we make sure FSH doesnt keep
rising):
1) LH rise causes a rise in Progesterone
2) Progesterone inhibits LH
Role of LH and FSH in the Menstrual Cycle:
1) FSH stimulates growth of a follicle which produces Oestrogen
2) LH causes ovulation
3) LH stimulates formation of Corpus Luteum which produces Progesterone
4) Fall in FSH would result in no Oestrogen
Role of Progesterone in the Menstrual Cycle:
1) Maintains uterus lining
2) Stimulates growth of blood vessels in uterus lining
REMEMBER: ovulation will coincide with a rise in progesterone and a fall in LH because:
1) Progesterone is produced by the corpus luteum
2) Corpus Luteum is formed after ovulation
3) LH is now inhibited by the Progesterone produced
How excess Oestrogen causes infertility (some oral contraceptives contain oestrogen):
1) Oestrogen inhibits production of FSH through negative feedback
2) Therefore prevents follicles developing
3) Oestrogen inhibits LH, this prevents ovulation
Some oral contraceptives add Progesterone as well as Oestrogen as progesterone also inhibits FSH and
LH, FSH causes follicle development and LH causes ovulation.
Why women who have passed menopause will have low levels of oestrogen:
1) Their follicles are no longer active
2) Therefore oestrogen is secreted by follicles, due to the follicles being inactive, the oestrogen
concentration is low
3) Therefore oestrogen is not enough to inhibit pituary gland
4) Therefore there will remain a high concentration of FSH (which wont do anything because
follicles are inactive)
For a girl, the first ovulation takes place late in puberty, this is advantageous because:
Ensures sex organs are mature before conception can occur
N.B. When
HORMONAL CO-ORDINATION
NERVOUS CO-ORDINATION
male sweat
is
exposed to
Slow
Rapid, i.e. response is rapid
a
female, the
Broadcast
Direct
pheromones
Long term
Short-lived/Short duration
in
the male
Chemical
Mainly electrical
sweat will
Delivery via blood vessels
Delivery via nerves
stimulate
Interacts with receptors in membrane of
Causes depolarisation of target cell
the
target cell
membrane
Hypothalamus to produce FSH.
REMEMBER: Auxin is produced by the root TIP; therefore if I cut of the tip, the root will continue to grow
horizontally
When light is directed towards the plant, IAA builds up on the shaded side causing the shaded side to
elongate, resulting in the plant bending towards the light. This is called POSITIVE PHOTOTROPISM
Why growth of IAA on the shaded side helps to maintain the leaves in a favourable environment:
1) Causes plant to bend towards light
2) Light is required for photosynthesis
IAA can be sprayed onto plants leaves, allowing it to diffuse through the leaves; however, the surface
of the leaves has to be thin to allow a short diffusion pathway.
REMEMBER: Even plants can reproduce sexually
Why plants that reproduce sexually are very variable in their yield:
1) Meiosis is involved which includes independent assortment and crossing over
2) Fertilisation is random
However plants grown from tissue culture will be clones as they are produced via mitosis.
Paracrine Signalling: communication between close cells using chemicals called Local Chemical
Mediators
Chemical mediators are released into tissue fluid but not into the blood; therefore they only
affect cells that are in their immediate vicinity
Examples of chemical mediators are Histamine and Prostaglandins
DNA: made up of two polynucleotides containing sequences of nucleotide bases that determine the
sequence of amino acids
Protein is made in the ribosomes, but DNA is too large to leave the nucleus, therefore mRNA takes the
code out of the nucleus through the nuclear pores.
Gene: A specific section of a chromosome that codes for an amino acid
TRICK QUESTION: why are the percentages of bases from the middle part of the chromosome and the
end part different?
They are different genes! Therefore they will have different base sequences
Genetic Code: Sequence of nucleotide bases on the mRNA that code for amino acids
Genetic Code:
1) Universal; same codons code for same amino acid
2) Non-overlapping; each base is part of only one codon
3) Degenerate; some amino acids are coded for by several different codons
4) Three codons do not code for amino acid, they are called stop codons and mark the end of a
polypeptide chain
Codon: Sequence of three nucleotide bases on the mRNA that code for a single amino acid
Anticodon: Group of bases complimentary to bases on the mRNA/ complimentary to codon
Introns: Non-coding, DNA, this means DNA that does not code for a protein
Degeneracy of DNA Code: some amino acids coded for by more than one triplet, the degeneracy will be
on the third base, i.e. UGU, UGC, UGA, UGG all code for the same amino acid and UUU, UUC, UUA, UUG
all code for the same amino acid
RNA is of two types:
1) mRNA
2) tRNA
In RNA (whether its mRNA or tRNA), the base Thymine is replaced with Uracil
Differences between DNA and RNA:
1) DNA has deoxyribose, RNA has ribose
2) DNA has Thymine, RNA has Uracil
3) DNA is double stranded, RNA is single (even tRNA is considered single stranded because it has
just been folded up)
4) DNA is larger and longer, RNA is smaller and shorter
5) There is only one type of DNA, whereas there are 2 types of DNA
6) In DNA, The amount of Adenine = amount of Thymine and amount of Guanine = amount of
Cytosine, in RNA there is variable amounts
Similarities between DNA and RNA:
1) Both have Phosphate
2) Both have Adenine, Cytosine and Guanine
3) Both have nucleotides
4) Both
Protein Synthesis has two stages:
1) Transcription: base sequence on a particular gene is copied onto molecules of mRNA. This takes
place in nucleus.
2) Translation: base sequence on the mRNA is used to assemble a protein using tRNA. This takes
place ON ribosomes.
Transcription:
1) Transcription Factors allow DNA Helicase to break the hydrogen bonds between the bases in the
DNA molecule
2) The enzyme RNA Polymerase moves along one of DNA strands (this strand is called the
sense strand), known as template strand, and free nucleotides to join with the complimentary
bases on the template strand
3) RNA POLYMERASE JOINS THE NEW NUCLEOTIDES TOGETHER TO FORM MRNA
4) As RNA Polymerase moves along the DNA strand, the DNA strands behind it rejoin, like a zip
5) When the RNA polymerase reaches a stop triplet code, it detaches, and thus we have a premRNA strand
6) Pre-mRNA contains Introns, which do not code for an amino acid, therefore we must remove
Introns using splicing
7) The pre-mRNA is spliced by cutting out the Introns and joining the exons together to form mRNA
using proteins called snurps (REMEMBER: Prokaryotic DNA does not have Introns)
REMEMBER: DNA is made up of two polynucleotide strands, the sense strand and antisense stand,
mRNA is transcribed from the DNA sense strand, which CONTAINS THE GENETIC CODE.
Also notice how in DNA Replication, DNA Polymerase was involved, here RNA Polymerase is involved,
theyre not the same.
Role of RNA Polymerase in transcription:
Attach nucleotides to form a strand
Why the number of bases in the DNA sense strand is the same as the number of bases in the DNA
antisense strand:
Complimentary sense strand (obvious)
Why the number of bases in the DNA sense strand is not the same as the number of bases in the mRNA
strand:
DNA contains Introns which are non-coding
Role of DNA antisense strand:
1) Provides DNA with stability
GENE MUTATION
Gene Mutation: change to one or more bases or arrangement of bases
1) Nonsense Mutation: a base changes resulting in the formation of a stop codon, therefore
polypeptide production stopped prematurely
2) Mis-Sense Mutation: a base changes resulting in a different amino acid being coded for
How a Mis-Sense Mutation causes only one different amino acid in the polypeptide chain:
1) Three bases code for one amino
2) However here only one codon is changed, i.e. there is NO frame shift
3) Therefore the other codons are not affected
3) Silent Mutation: a base changes however the resulting codon still codes for the same amino acid
due to the degeneracy of the generic code, this substitution will be on the third base as
degeneracy is found on the third base
4) Deletion Mutation: when a base/s is completely removed from the DNA sequence, resulting in a
frame shift to the left
Why mutation involving deletion of a base is more severe than mutation involving substitution of a
base:
1) Deletion causes frame shift
2) This changes many amino acids
Tumour Suppressor Genes: slows cell division and overrides the effect of oncogenes
If a Tumour Suppressor Gene becomes mutated, it becomes inactivated. This mutation can be inherited
too.
Tumour Suppressor Genes may also be inactivated when cells with genetically modified genes are
added to the body, this is because the Tumour Suppressor Genes will not have recognised the new
genes, therefore will not know how to stop division.
Why all cancer cells must be destroyed in a tumour:
1) Cells can metastasise
2) It can spread to other parts of the body
Totipotent Cells: cells that can mature into any type of body cell, i.e. they are undifferentiated
Where we get totipotent cells from: adult stem cells, embryonic stem cells (however they only occur for
a limited amount of time), induced pluripotent stem cells
When a cell becomes specialised, we say it has lost its totipotency.
Whilst it has totipotency, it can be used to treat genetic diseases.
Features of totipotent cells:
1) Will replace themselves, i.e. they are immortal (except for
multipotent cells which divide to form only a limited number)
2) They are undifferentiated
Genetic Modification:
1) Isolation: finding DNA fragments that have the desired gene that produces the desired protein,
then separating it
2) Insertion: putting the desired DNA fragments into a vector
3) Transformation: transferring the DNA into a suitable host cell
4) Identification: deducing which host cells have taken up the DNA and which havent
5) Growth: making more copies of the host cell
1) Isolation
Isolation can be done in two ways:
1) Use Reverse Transcriptase
Reverse Transcriptase catalyses the production
of DNA FROM RNA
PROCESS:
Find cell that produces desired protein and
remove mRNA from this cell
Add Reverse Transcriptase to make a
This process is better than taking actual DNA from the organism because:
1) DNA contains Introns too whereas mRNA will contain only activated desired genes
2) Makes stable copy of a gene since DNA is less readily broken down by enzymes than RNA
3) It makes genes easier to find, as there are thousands of genes but only a few types of mRNA
exist
2) Use Restriction Endonucleases
Restriction Endonucleases cut a DNA double strand VIA HYDROLYSIS at a specific sequence of
bases called a recognition sequence in order to isolate the useful DNA sequence
Usually, the DNA sequence the Restriction Endonucleases will cut will be a PALINDROMIC
SEQUENCE, which means: sequence of one strand is the reversal of the corresponding strand.
Restriction Endonucleases cuts DNA in two ways:
Blunt Ends
Sticky Ends
The sticky ends/blunt ends can be attached to other sticky ends/blunt ends that have been cut by the
SAME Restriction Endonucleases using DNA LIGASE to form a Recombinant DNA VIA CONDENSATION:
Sometimes, there are quite a few recognition sequences leading to Restriction Endonucleases causing
many fragments, but scientists only need one specific fragment containing the desired DNA fragment,
therefore they will use Gel Electrophoresis to separate the fragments. (Gel Electrophoresis will be
explained shortly) Once the fragments are separated, they will use a DNA Probe (will be explained
shortly) which will bind to a complimentary base sequence in the gene, the fluorescence/radioactivity
of the DNA Probe will tell us which fragment contains the desired gene. Then we will movie onto
insertion, etc.
The overall isolation using Restriction Endonucleases:
1) Restriction enzymes cut DNA at specific base sequences VIA HYDROLYSIS forming a sticky end
2) Same restriction enzyme also cuts DNA into which gene is inserted forming another sticky end
3) DNA Ligase joins the two pieces of DNA together which happen to be complimentary VIA
CONDENSATION to form recombinant DNA
Why DNA base sequences must be cut with the SAME Restriction Endonucleases:
So that it cuts VIA HYDROLYSIS at the same base sequence therefore allowing pairing of bases when
DNA Ligase is used
Why Restriction Endonucleases (enzyme) will cut DNA only at specific recognition sites:
1) Different lengths of DNA have different base sequences
2) The enzymes active site has different shapes
3) Therefore only specific sequence will fit active site of an enzyme
One the DNA sequence has been isolated; we may continue the process of insertion, transformation,
etc. in two ways:
1) In Vivo: using living cells
2) In Vitro: using the Polymerase Chain Reaction
Before a plasmid with the desired gene is put into, the bacteria, the gene for conjugation is removed
from the plasmid because:
1) This prevents bacteria cells from conjugating
2) Therefore stops the transfer of DNA, thus reducing the risk of other organisms getting altered
genes
Why biologists will often use plasmids which contain antibiotic resistant genes:
1) It can act as a marker
2) This allows detection of the cells containing the desired DNA
If in the exam it asks for the definition of the term sticky ends, you will write:
1) Cut ends of DNA
2) One strand longer than the other
3) Can attach to complimentary DNA
In Vivo
1) Isolation: This has been completed
2) Insertion: putting the desired DNA fragments into a vector
Using Restriction Endonucleases we can combine the DNA of one organism with that of another
organism as long as the Restriction Endonucleases used to create the sticky ends in both was the
same.
PROCESS OF INSERTION:
1) DNA isolated from cell which manufactures desired protein
2) DNA and a plasmid both cut using the same Restriction Endonucleases, therefore creating DNA
fragment with sticky end and plasmid with a hole that has a sticky end
3) DNA fragments and plasmid with holes are mixed together with DNA LIGASE, the DNA fragment
fits into the hole in the plasmid like a jigsaw puzzle therefore forming recombinant DNA
Recombinant DNA: Contains genes of 2 types of organisms (plasmid will become like this)
4) The plasmids containing the DNA fragment will be the vectors, which are materials used to
transport DNA into the HOST CELL
If asked in the exam, how a DNA fragment in inserted into a vector, you will write:
1) Cut vector DNA with same Restriction Endonucleases used to cut DNA containing desired gene
2) Use DNA Ligase to join the sticky ends
Why plasmid is described as a vector:
It can carry foreign DNA into a bacteria cell
Properties of a vector:
1) Big enough to hold gene
2) Circular so that it is less likely to be broken down
3) Contains control sequences so that it can replicate the gene
After the DNA fragment is inserted into the plasmid, the plasmid will function differently, i.e. if you
replaced a resistance gene with the desired gene, then the plasmid will no longer be resistant like it
was before because:
1) The plasmid DNA base sequence has been altered
Enzyme Markers:
PROCESS:
1) Lactase turn colourless substrate into blue
2) Therefore put the desired gene into the gene that makes lactase and insert into plasmid, then
insert plasmid into bacterial cells
3) Therefore whichever bacterial cells have a plasmid with the desired gene, their lactase gene
will not work
4) Therefore when the bacterial cells are put in a colourless substrate, the bacterial cells
containing the plasmid with the required gene will not change to blue
Importance of Markers:
Allows transformed bacteria to be separate from non-transformed bacteria
5) Growth: The bacterial cells that have the plasmid with the desired gene are now replicated
PROCESS: Using a fermenter
OVERALL, THE PROCESS OF GENETIC ENGINEERING/GENETIC MODIFICATION:
1) Cut desired gene out of cell using Reverse Transcriptase/Restriction Endonucleases
2) Cut plasmid using the same Restriction Endonucleases
3) Insert the gene into the plasmid, thereby joining the sticky ends using DNA Ligase
4) Transfer the plasmid into a cell
5) Use gene markers to identify which cells have taken up the new gene
6) Cells which have taken up the new gene cloned
Sometimes, instead of a bacteria cell, a virus is used for genetic engineering.
Advantages of using a virus to introduce genes into cells:
1) Virus can enter cells and replicate inside cells
2) Viruses target specific cells
How PCR
transcription:
1)
RNA
DNA
2) In
strand,
two
One use of
Provides
DNA fragment
Number of
produced =
DNA molecules
differs from
Transcription uses
Polymerase, PCR uses
Polymerase
transcription, the
template is one
in PCR, the template is
strands
PCR:
multiple copies of a
DNA molecules
Original number of
X 2Number of PCR Cycles
In Vitro
1) Extremely rapid
2) Does not require living cells
3) Very little purification of final
sample needed
4) Very sensitive, can clone DNA
molecule up to 1kpb long
In Vivo
1) Useful when we wish to introduce a gene
into another organism
Advantage 2) No risk of contamination
s
3) Very accurate
4) Cuts out specific genes
5) transformed bacteria can be used to
produce large quantities of gene products
Disadvanta 1) Relatively slow
1) Mistakes in copying in bases take
ges
2) complex purification
place
Cystic Fibrosis: caused by a mutation in the gene for the protein CFTR, which is a chloride ion channel
Effect of Cystic Fibrosis: too much sticky mucus produced by epithelial cells
Gene Therapy: replacing defective genes with healthy genes
Gene Therapy can be done in two ways:
1) Gene Replacement: defective gene replaced with healthy gene
2) Gene Supplementation: healthy copy of gene added alongside defective gene, the healthy genes
will be dominant
There are two ways in gene therapy may be adopted:
1) Germ-line Therapy: replacing or supplementing the defective gene in the fertilised egg;
prohibited due to ethics
2) Somatic-cell Therapy: targets just the affected areas, but the treatment needs to be repeated
periodically
Somatic-cell Therapy is carried out in two ways:
1) Using a virus called Adenoviruses as vectors for the healthy gene
2) Wrapping the plasmids containing the healthy gene in lipid molecules to form a liposome which
can pass through phospholipid bilayer
Somatic-cell Therapy is not always effective because:
1) Adenoviruses may cause infection
2) Patients may develop immunity from Adenoviruses
3) Liposome may not be able to pass through phospholipid bilayer
4) Healthy gene may not be expressed
5) Healthy gene may enter genome of another gene such as tumour suppressor genes, thus
causing cancer
How a person may become cured through Gene Therapy:
1) Healthy gene is expressed
2) Healthy genes replicated with cells
Why Gene Therapy may still result in children with the genetic disease:
1) Gamete cells do not take up the healthy gene
2) Therefore the person is able to pass on defective gene
Effectiveness of gene therapy:
1) Effect is short lived
2) It can induce an immune response
3) Using viral vectors to deliver the gene present problems
4) The genes are not always expressed
5) Not effective in treating conditions that arise in more than one gene
Gene Therapy can also be used to replace the defective gene in a gamete, however this is illegal in the
UK because:
LOCATING A GENE
How to find WHERE a particular DNA sequence (gene) is located (the following
can also be used to see if the desired base sequence actually exists in the DNA
or not):
DNA Probe: short single-stranded section of DNA with base sequence
complimentary to part of target gene, it is labelled either
radioactively or fluorescently
DNA Probe will be made that has bases complimentary to the portion of DNA
whose position we want to find
1) The DNA strands are separated
2) The DNA strands are mixed with the DNA Probe, if the desired base
sequence is present, the DNA Probes will binds to complimentary bases
of the desired gene, this is called DNA Hybridisation
3) The site at which the DNA Probe has attached itself can be distinguished by looking for the
radioactive/fluorescent probe
Therefore, DNA Probes have two benefits:
1) It tells you if desired gene is present
2) If desired gene is present, it binds to it, therefore telling you where to find the desired gene
How DNA Probes can help against cancer:
1) They can help identify carrier of the cancer gene
2) They can identify which cancer gene is present
But to first make the probe, we need to KNOW THE BASE SEQUENCE of the DNA sequence we are
investigating (DNA Sequencing/Sanger Sequencing):
1) Make four test tubes, one containing many single stranded strands of the DNA sequence as well
as a mixture of nucleotides as well as a small quantity of the terminator base Adenine
(terminator bases do not form hydrogen bonds) as well as a primer that is
fluorescently/radioactively labelled as well as DNA Polymerase. In the second tube, put the same
ingredients except put a small quantity of the terminator base Thymine instead of Adenine. Do
the same for the other two tubes, with terminator Guanine and terminator Cytosine
2) The DNA strand being investigated will be copied many time using Polymerase Chain Reaction
and added to the four tubes, each DNA strand in the four tubes can bind to a normal nucleotide
or the terminator nucleotide forming a DNA fragment using DNA Polymerase
3) Depending on exactly where the terminator nucleotide binds, DNA synthesis will be terminated
after only a few nucleotides of after a long fragment of DNA has been synthesis
4) The primer will tell us where the binding started and the terminator bases will tell us where it
ended
5) We now need o separate the different length fragments of DNA which is done through Gel
Electrophoresis
Obviously before attempting to find the base sequence of the gene, we must find the amino acid
sequence, and then find DNA base sequence using the method described above.
DNA Primer: Short length of DNA which is single stranded and has a specific base sequence which
indicates where replication will start
Why the DNA fragments formed in the tubes have different base sequences:
They have different lengths as strand synthesis stops at terminator nucleotide
Gel Electrophoresis:
1) The DNA fragments are placed onto an agar gel and a voltage is applied across it
2) Each fragment is negatively charged due to the Phosphate group, therefore will try to move
towards the anode (+)
3) The resistance of the gel means that the larger the fragments, the more slowly they move
4) The DNA fragments on the gel cannot be seen
5) Therefore sheet of photographic film placed on agar gel for several hours,
radioactivity/fluorescence from each fragment shows where it is on the gel, this method is
extremely sensitive
If a person is informed that he is at a greater risk of cancer through genetic screening, he may choose:
1) To give up smoking
2) Lose weight
3) Eat more healthy
4) Avoid mutagens
5) Regularly check themselves for cancer
6) To undergo gene therapy
Implication of genetic screening:
1) Who decided who should be screened
2) Who has access to the test results
3) Would employers refuse insurance cover if they knew a person has a genetic disorder
4) What are the responsibilities of someone who carries a gene for an inherited disease
5) Does mankind have a responsibility to maintain genetic diversity
6) Who decided what is a defect or a disease
Southern Blotting:
1) DNA is cut using restriction enzyme
2) Electrophoresis separates DNA fragments according to length
3) DNA made single-stranded
4) Transfer to positively charged nylon membrane to which the negatively charged DNA stick
5) Probe is applied which does complimentary base pairing to the DNA fragments in the nylon
membrane
6) Radioactive strand detected on film
7) Pattern unique to every individual
Southern Blotting is the method used for:
1) GENETIC FINGERPRINTING; the differences in DNA between humans is found in the non-coding
DNA, which is repetitive
The probability of two organisms having the same fingerprints is very low; about 1 in 10 9
2) To identify restriction fragments containing a particular gene
3) GENETIC SCREENING
Genetic fingerprinting is used for:
1) Crime investigation
2) Determine family relationships
3) Prevent undesirable breeding
4) Determine relationships between ancient humans
5) Establish evolutionary relationships with other species
6) Measure genetic diversity within a population
Why genetic fingerprinting takes long if the sample is small:
PCR is required to provide amplification of the DNA
Some plants can be made as a pesticide by incorporating the pesticide into genome of plant to allow
plant to produce toxin, this called genetically modifying crops. (PS Dont get confused, this isnt
Selective Breeding)
Advantages of making Genetically Modified Crops against pests:
1) More effective than other methods
2) Less use of insecticide
3) Prevent spread of disease
4) Economic benefit to farmer
5) Possible cheaper food
Disadvantages of making Genetically Modified Crops against pests:
1) Plasmid may enter another species
2) May sterilise other species
3) Disruption of food chain
4) Poison may harm other organisms
5) Consumer may consider product as unnatural
6) Unknown side-effects unknown
7) Risk to biodiversity
8) Risk to local farmers
For and against of doing genetic engineering to clone cells from human embryos:
FOR:
1) Embryo can develop into any type of tissue
2) Easier to use embryo cells than to extract cells from a person
3) Cells would replicate in patient during mitosis
4) Permanent cure
5) Likely to be safer than implants from animals as animals may contain new viruses
6) Only body cells implanted, therefore germ line would not be affected
AGAINST:
1) Long term side effects are unknown
2) Embryo has potential for development to person therefore could be regarded as murder
Completely irrelevant point you should remember: When substance comes out in faeces, we say it has
not been absorbed, but when a substance comes out in
urine, we say it has been absorbed but not used for growth.
REMEMBER: Lysosomes are substances that break down tissue
gills
Mitosis (Interphase, Prophase, Metaphase,
Anaphase, Telophase) and components of each
stage
Small surface area to volume ratio and large
surface area to volume ratio and their
implications
Structure of a plant leaf and its adaptation for
gas exchange
Structure of Myofibril
Process of Sliding Filament Theory
Comparison of hormonal system with nervous
system
Plant growth factors
Process of Transcription and all that it involves
and its importance in protein synthesis
Process of Translation and all that it involves and
its importance in protein synthesis
Comparison of RNA with DNA and mRNA with
tRNA
Types of mutations
Process of controlling cell division
Process of controlling the expression of a gene
(SiRNA, Oestrogen and Transcriptional Factors)
Isolation (use of Restriction Endonucleases and
Reverse Transcriptase)
In Vivo Insertion (use of DNA Ligase)
In Vivo Transformation (use of Ca2+ ions)
In Vivo Identification (4 types of gene markers)
In Vivo Growth
In Vitro PCR
Process of locating genes using DNA Probes
What is gene therapy, how could it be done and
is it effective
Process of finding the base sequence of a gene
using Gel Electrophoresis
Genetic screening and its implications
Process of Genetic Fingerprinting
Genetically modified crops, pros and cons
Using embryos in genetic modification, pros and
ethical arguments
Importance of refractory period
Synaptic Transmission
Structure of neurone and process of action
potential