Cell Theory & Genetics

Soofia English Medium School INTRODUCTION TO THE CELL THEORY ANDGENETICS.ByMr.Joshwa. O. O.S Preface.
This text tries to simplify the topics as much as possible to beginners. An attempt has been made to make it relevant for COSC level though itmust be noted the text slightly goes beyond Cambridge COSC syllabus as at year 2013. students should also find extra information elsewhere relevant to this course and its the authors strong belief that not doing so will be tantamount to a futile attempt at imprisoning knowledge acquisition process in a transparent, tiny, little, brittle bottle. Please do not put bottle-necks in the beautiful field of Science because previous more powerful attempts miserably failed! Again, using modern scales of measuring progress, History has donethe current humanity justice by proving time and again that places where science occurred early enough, progress has a strong foot-hold. This is not to suggest, by any means, other places cannot catch up in this necessary race.
In your endeavour to master the subject always try to understand the principles rather that memorising meaningless sentences.
Key; Textsin italic fonts except those in textboxes and are underlined, are considered out of current COSC syllabus. Nevertheless some are necessary for the sake of smooth flow and thorough understanding of this topic. Again, you shall discover that the inclusion of the extra information is meant to bridge the gap between topics/subtopics related to this topic Genetics.
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Soofia English Medium School
The biological cell theory Note; Hypothesis is wise guess/informed guess attempting to explain natural phenomena; A theory is a hypothesis that has scientifically been confirmed to be largely true; The Biological cell theory; (Was Hypothesised (proposed) by Schleiden (1804-1881)& confirmed by Schwann -1939) It states; Biological cell is the basic structural; and basic functional (physiological); unit of life;
Note; Basic structural unit of life as used above means; the overall organisms Structure; is the sum total of all cells and the cells products in that organism; Basic functional unit of life means; activities in an organism are sum total of individual cellular activities; The biological cell is the smallest unit of life able to independently exist; No tissue, organ or organism can have an activity that is absent in its cells; Life exists only in cells because all life activities are performed in cells; A cell is made of a small mass called protoplasm=cell membrane, nucleus, and other organelles;
Cell organelle; internal living parts of cell that are often surrounded with membranes e.g mitochondrion, nucleus, Golgi apparatus, ribosome, centrioles, A cell organelle cannot survive independently; That cells have full genetic information coded (programmed) in bio-molecules called DNA;
DNA has blue-print for all characteristics of a cell; Gene; section (potion) of DNA / chromosome; that controls production of a single protein (enzyme) or RNA; and it can be inherited; Every nucleus contains almost all the genetic information (DNA) needed in cells of that organism; (in eukaryotes, a few others are in mitochondria and chloroplasts); But each cell type only uses part of genetic information needed for its specialised structure and function/functions; 2|Page www.soofiaems.org
Soofia English Medium School For example; in a nerve cell only genes needed to be and perform functions of a nerve cell will be working while the rest will be switched off. Switching on or off of certain genes in a cell is regulated by STAT-proteins=Signal Transducer and Activator Protein. (genes like those for structure and function of muscle cell are switched off in a nerve cell though they are present in a nerve cell). That all current living cells came from pre-existing cells; Through Reproduction process; That Life passes to next generations in form of living cells; But Scheiden thought new cells bud-off from cell nucleus; Its Rudolf Virchov-1838, who observed that new cells come from division of pre-existing cells; The genes copies are passed on to next generation of cells during Reproduction; That all cells share basic chemical, structural and metabolic similarities because of chain inheritance of genetic materials from their Shared, common ancestry;
Note; Some cells have forms that lack some typical cell parts e.g. RBCs in mammals lack nucleus, lack of nucleus in phloem vessel elements; lack of cytoplasm in outer skin cells; That current difference among cells of different species of organisms is due to;
Evolution for better adaptability to different environments and resources; That organisms that spend entire life cycle as single cell=unicellular organisms; while those made of more than one cell are multicellar organisms;
Note;-each cell in an organism has internal order; (recall homeostasis); -Cells in organisms body have specific structures, arrangements and Functions (recall cell specialisation); -Even though cells are part of organisms, they are able to independently divide, grow and carry metabolism and even die. -Basically cells are totipotent= a single cell can give rise to whole organism unless and until it becomes extremely specialised; -Growth of organisms involves growth and multiplication of cells; -All living cells get energy and matter from their environment; -Cells are capable of energy transformation;
Soofia English Medium School -Cells have power of repair and regenerations; -Cells have power to respond to stimuli and adapt to their environment;
The three types of cells in multicellular organisms in terms of cellular reproduction; 1. Undifferentiated/stem cells; undifferentiated/unspecialised and able to divide; Examples; meristematic cells in plants, stratum germinativum of skin, germinal epithelium, haemopoietic tissue cells of bone marrow and zygote; 2. Differentiated/ post mitotic cells; specialised; perform specific functions; They have lost power to divide and reproduce; Cell specialisation occurs in terms of modifications in structure (shape, size) and function; As a result of orderly switching on and switching off of certain genes by specific biomolecules called inducers AND repressors, respectively (Signal Transducer and Activator Proteins); Cell specialisation provides; better organisation, division of labour thus high efficiency and better survival tools; Note; embryonic development involves differentiation; 3. Dedifferentiated cells; formerly differentiated cells that have returned to undifferentiated states; and gain back power to divide; Dedifferentiation=; process where specialised cells lose their specialised states; Genes that allow differentiation is switched off; genes that allow division and limited growth are switched on again during dedifferentiation; Examples; cork cambium, wound cambium in plants; Dedifferentiation helps in; vegetative propagation in plants, tissue culture and regeneration in animals eg loss and re-growth of lizards tail, re-growth of liver if some damaged parts are cut off; Note; Cellular totipotency; ability of a nucleated somatic cell to divide and form complete organism; Examples; Formation of embryos from plant somatic cells (=somatic embryos; embryos formed from vegetative diploid cells); is done through technique called tissue culture by using sterile nutrient medium and growth hormones;
Soofia English Medium School These have been demonstrated in plants using anther, root and shoot tips, leaves, buds, nucleus, somatic flower cells; Carrot plants were the first to be grown from isolated carrot phloem cells; Here reproduction is entirely by mitosis; thus is asexual;
Size, shapes and life span of cells (vary from one cell type to next); Cell size; most cells are microscopic, 3-30um; Note;-a few e.g. birds eggs are large and visible to naked eye; An ostrich egg is about 170135mm; these are large because they have to store enough nutrients for partial/complete embryo development; -Single celled alga called Acetabularia is about 10cm long; -Cells of some plant fibres like hemp may be up to more than 100cm; -Nerve cells e.g. in human can be up to 90-100cm; -Smallest known cell is that of Mycoplasma laidlaivia=0.1-0.5 um (1000-5000 times diameter of a hydrogen atom; Generally, cells remain small; So that they maintain; (a)Large surface are to volume ratio; Needed for efficiency of important cellular activities like; nutrient absorption, gaseous exchange and excretion; (b) Large nucleus to cytoplasm ratio; Needed for nucleus to have better control of metabolic activities in cytoplasm; Effects of increase in cell size; decreases surface area: volume ratio
This would decrease rates of nutrient absorption, gaseous exchange, excretion, Resulting to lower cell efficiency; decreases nucleus to cytoplasm ratio; This decrease ability of nucleus to control metabolic activities in cytoplasm; Resulting to lower cell efficiency; 5|Page www.soofiaems.org
NOTE; If chromosomes are surrounded by nuclear membrane the whole structure=nucleus; A cell nucleus=karyon; Some organisms have chromosomes not surrounded by membranes;=prokaryotic; Some cells have chromosomes surrounded by nuclear membrane;=eu-karyotic In eukaryotes DNA (chromosomes) are found in nucleus (have more genes), mitochondria, and chloroplasts; Nucleolus; region in nucleus of non-dividing eukaryote cell, where chromosomes are found; Chromosomes are present all the time in nucleus of eukaryotes but are only clearly visible during cell division; All kingdoms of organisms are eukaryotic except kingdom monera (has bacteria rickettsia and cyanobacteria=blue-green algae) Most eukaryotes have a single nucleus in a single cytoplasmic space surrounded by a plasma membrane thus are uni-karyontic; Note; some fungi and algae structures have two nuclei per single cytoplasmic space, thus are Di-karyotic; while some have more than two nuclei per single cytoplasmic space thus are poly-karyontic; Note; The region in bacteria that has the single coiled DNA/chromosome that is responsible for controlling main activities is called the Nucleoid/ nuclear body/ genophore while the separate circular DNA whose genes are only decoded during stress or in production of defence chemicals like antibiotics, is called plasmid; Nucleosome; eukaryote chromosomes made of DNA wrapped in 8 histone protein; Cell shapes; vary and are controlled by; Function; e.g:
Biconcave human RBCs; to increase surface area: volume ratio; Amoeboid WBC; in order to squeeze through blood capillary lumen; Elongated nerve cells; to conduct impulses from different parts of body to CNS; Bean shaped guard cells; to allow opening of a pore between them; for exchange of gases Rectangular palisade cells; Columnar intestinal epithelial cells;
Soofia English Medium School Streamlined sperm cells; to minimise fluid resistance; Compression/ and Position; e.g. epithelial cells; Skeleton; exo/endo Cell wall; e.g. in plant cells; giving most of the definite shapes; Viscosity of protoplasm; e.g. changes in cytoplasmic viscosity in a amoeba lead to change in shape Age;
Cell lifespan; from cell to cell; Old and weak die and are replaced through divisions of younger cells; Formation of new cells from pre-existing ones through reproduction is continuous chain; Lack of nucleus in mammals RBCs shortens their life spans; Exceptions to the cell theory; Some Fungal and certain algae structures; are called coenocytic if there are more than one nucleus in each cytoplasmic space that are not separated by cell membrane( aseptate cytoplasm); Viruses poss genetic information (some RNA while DNA in others) surrounded by a protein coat but these cannot be translated without virus using machinery of living cells of organisms;
Note; read cell structure, function of parts, cell specialisation and specialised cells; Classification of bacterial cells in terms of shapes, cocci, bacilli, spiral, vibrio; Begging of genetics topic INHERITANCE; Heredity; passing on characteristics from one generation of organism to next; Genetics; science that studies heredity; /(science that deals with study of inheritance); NOTE; we have two broad classifications of cells in genetics; Somatic cells=body cells; and germ line cells; cells that give rise to gametes;
Soofia English Medium School Molecular basis of inheritance; Nucleic acids; bio-molecules associated with heredity i.e. DNA and RNA; DNA; in full=deoxyribonucleic acid while RNA=ribonucleic Acid; DNAs stores genetic information coded in arrangement of their monomers (nucleotides); Each code for synthesis of single protein/enzyme/RNA=gene Messenger RNAs (mRNAs) and transfer RNAs (tRNAs) help translate the information stored on DNA by helping link specific amino acids to form polypeptide chains during protein synthesis; on ribosomes; DNA and RNA are made of small building blocks (monomers) called nucleotides; Chromosome; strands of DNA plus proteins that package them (these proteins are called histones); Each chromosome is made of parallel strands called sister chromatids DNA; a chain of nucleotides whose pentose sugar is a deoxyribose; nucleotide sequences in DNA molecule controls production of proteins; Remember; normally two strands of DNAs hydrogen-bond to form DNA Double Helix; which then twists like a spiral staircase. RNAs are made of single strands; The DNA double Helix should not be confused with the sister chromatids in chromosomes
Gene a Locus Hydrogen bond
Gene a locus
Sister chromosomes Two DNA strands
(b) (a) DNA double-helix (its normally twisted) (b) single chromosome made of two sister chromatids
Soofia English Medium School Note: a Gene; A section (potion) of DNA / chromosome; that controls of production of a single protein (enzyme) or RNA; and it can be inherited; Its an inheritable factor; Note; some biological characters are determined by; -many genes interacting with one another and with environment (as seen in continuous variations); -or only a single or a few genes (like seen in discontinuous); Genes contribute to organisms traits by: directing synthesis of a single protein/enzyme/RNA; Its the basic unit of heredity; Its made of organised sequence of nucleotides along DNA; Several genes could be present along a DNA/Chromosome length; Gene locus; physical position of a gene/allele on a chromosome; A codon; is three adjacent nucleotide bases a long a mRNA that specifies particular amino acids; And the complementary base triplet (three nucleotide bases) on tRNA is called Anticodon; Thus one gene makes several mRNAs which carry specific codons; A single tRNA, with a specific anticodon, carries one specific amino acid to ribose during protein synthesis; Since one polypeptide chain/ one protein may be made of specific several amino acids sequences, synthesis of a single protein may need several codons and their complementary anticodons; Thus a gene is a code (coded information (programme) that tells a cell type of protein to make; The types of proteins which can be made include: Enzymes all bio-chemical reactions are controlled by special bio-catalysts known as enzymes. By controlling which enzymes are present in the cell, genes can control which chemical reactions take place inside the cell; thus controls cell functions; ( in eukaryotes, genes/chromosomes are in nucleus thats why we say function of nucleus is to control all cell activities and also why absence of nucleus in RBCs in mammals make the RBCs have short lifespan; about 120 days!) Every cell contains all the genes that are needed in cells of that organism; In eukaryotes DNA(ribosomes) are found in nucleus, mitochondria, and chloroplasts; But different genes are in use in different cells;
Soofia English Medium School For example; a nerve cell will only have working the genes needed to be a nerve cell will be working while the rest will be switched off and thus genes like muscle cell genes are not switched on in a nerve cell though they are present. Structural proteins - these make special structures like muscle fibres or a tail. These alter the shape of the cell and therefore its function. Special proteins ; like hormones which are of special proteins which can affect the way other cells work. Every cell contains all the genes that are needed in cells of that organism;
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Gene cloning/gene amplification; process of making multiples of same gene Soofia English Medium School Cloning; making many exact similar copies of something like genes, cells or genetically identical organisms. Clone; a genetically uniform population derived from a single organism/cell by asexual means Individual members of a clone=ramets Identical twins are genetic clones of each other (but are not clones with either of their parents) Plants can be cloned by taking their somatic cells and growing them in particular hormones Mammals can be cloned by fusing their somatic cells with an egg whose nucleus has been removed Gene locus; physical position of a gene along chromosome Gene family; a group of homologous genes in a single species Genome; complete genetic composition of a cell/organism e.g. its single chromosome in prokaryotes and in eukaryotes its sets of chromosomes ; Genome stores information in form of genes that provides a blue-print to produce characteristics of organisms It copied and transmitted from one generation to next It accumulate genetic changes over many generations creating variations upon which natural section works to create new species (evolution/speciation= emergence of new species from former species) Gene pool; all genes in a population Gene expression; gene function (both at level of trait and at molecular level) Gene regulation; ability of cells to control levels of gene expression Gene flow; movement of genes between populations. Occurs to individuals migrating Causes changes in gene compositions of resulting populations Genetic drift; random change in allele frequencies in a population from generation to next which is due to chance. Occurs more quickly in small populations Gene knockout; situation where both copies of functional genes are replaced with non-functional copies. can be done by gene replacement by using cloned genes Gene therapy; introduction of cloned genes into living cell chromosomes in attempt to cure disease Gene silencing; ability of one gene to silence effect of another via small RNA called microRNA Genetic code; a code specifying relationship between nucleotide codons on mRNA and amino acid sequence on a polypeptide chain; Note; genetic engineering;=artificial change in genetic make-up of a cell/organism; by inserting a gene from another organism into its DNA of another organism; where it is then leads to synthesis of protein that it was helping to synthesis in donor cell. its direct manipulation of genes for practical purposes; The recipient cell/organism=(transgenic/genetically engineered) if its an organism its also called Genetically Modified Organism ,GMO EXAMPLE; inserting human insulin gene; in bacteria plasmid DNA; the bacterium with gene from another organism has been genetically engineered; bacteria multiplies rapidly (asexual by binary fission); each generation passes the insulin genes; to the next generation; the insulin gene leads to insulin production in the bacteria; which is isolated; and given to human diabetic patients; the insulin is exactly same as that produced in human; the production is normally in sterile; fermenters; Bacteria is chosen here because it reproduces rapidly; thus produces the needed product in large quantity fast; it can accept new genes; and allow the new genes to be signal production of their products; bacteria nutrient needs are fairly cheap; production requires fairly small space; Biotechnology; is the use of living systems and organisms to develop or make useful products;
Soofia English Medium School Only the underlined are part of current COSC syllabus Allele; (is an abbreviation of term, allelomorphs)=one form or another); Definition;=a different/alternative form of same gene/ Variant form of a gene/ Alternative nucleotide sequence at a single gene locus; Alleles; alternative genes that signal formation of enzyme (protein) for same trait but But the proteins are slightly different; They would occupy corresponding sites on corresponding homologous chromosome pair;
Explaining what alleles are;
Locus of Blood group Gene 1A homologous chromosomes
locus of Blood group Gene 1B
Note; homologous chromosomes carry alleles of similar genes on corresponding positions (locus); Same gene means a gene that determines same trait; ( though they may slightly differ=alleles of same gene) For instance the trait maybe blood group but controlled by a single gene with variant forms=alleles: allele 1A will signals formation antigen A on RBC,; allele 1B signals synthesis of antigen B on RBCs; And allele 1O does not lead to formation of any antigen on RBCs; All alleles 1A , 1B, and1O, are alleles of each other of same gene for the same trait ,blood group; Note; Antigens, as used above, are protein molecules that can be detected by immune systems; Some traits are determined by only two alleles; Other traits are determined by more than two alleles (are determined by multiples of alleles) & The genes for such traits=multi-allelic genes)
Soofia English Medium School A lethal gene/lethal allele; agene/allele whose phenotype is capable of killing the organism that has it; e.g. mutant allele, HbS that leads to sickling of human RBCs is lethal, especially if present in homozygous state, (HbSHbS) in an individual; Note; Each type of organism has a particular number of chromosomes in its cells eg human has 23 chromosome pairs (46) in somatic cells and 23 in gametic cells; Homologous chromosomes; pairs of chromosomes of similar lengths & DNA nucleotide sequences; Chromosomes are numbered according to their decreasing sizes starting with the shortest pair. to the longest (except sex pair of chromosomes that are not always same size and carry different genes); Non-sex chromosomes exist as homologous pairs and are called autosomes; Sex chromosomes are not homologues of each other because they are of different lengths and dont always carry similar genes. Only autosomes have homologues of each other. In eukaryote, most chromosomes are found in nucleus, Those in nucleus though present all the time, they are only clearly visible during cell division stages Replication; process where chromosomes make exact copies of themselves at the onset of cell division; so that the 2n chromosome number becomes 4n in eukaryotes; and in bacterial single Nucleoid chromosome becomes 2 chromosomes; Diploid; an organism/cell with two copies of each homologous chromosome plus the two sex chromosomes; its shown as 2n; its seen in somatic cells of eukaryotes; Haploid; organism/cell with only one set of chromosome (only one of each chromosome=1/2 the number of body chromosomes); haploid number of chromosomes is shown as n; e.g. in human sperm cell and secondary oocyte; Homozygous (=true bred; a diploid individual with identical copies of an allele of a gene; at corresponding gene locus on both homologous chromosomes; e.g. HbAHbA or HbSHbS or 1A 1A or 1B 1B
eg
locus for allele 1A for blood group A
Homologous chromosomes
Soofia English Medium School Each chromosome in the homologue comes from either parent in sexually reproduced organisms And are carried in the haploid sex cells (male and female gametes); Heterozygous/hybrid; individual with two different alleles; of same gene; These are on corresponding gene locus; on both copies of homologous chromosomes; in its cells; e.g. HbA, HbS (these determine haemoglobin shapes)or1A , 1B(determine antigens on RBCs)
locus for allele 1B for blood group B
Homologous chromosomes Inbreeding; Breeding between two genetically closely related individuals; its more likely in nature when a population is too small; at times occurs even in human societies; it decreases relative proportions of the heterozygotes; but increases proportions of homozygotes (because same allele for a gene have higher chances of being passed on from parents to their next generation) ; rare harmful recessive alleles that are only harmful in homozygous state are also more likely to occur; this lowers population fitness and lowers reproductive success=inbreeding depression; this can endanger a species existence;
Biologists try to solve this by introducing foreign individuals into the population; Pure line; generations of homozygous individuals which produce only one type of off-springs in terms of both phenotypes and genotypes; They are said to breed true/TO be true breeders of specific phenotype and genotype; all interbreeding members are homozygous for the same allele; eg if all breeding members were to have 1A1A genotypes and all blood group A , all subsequent generations would have 1A1A genotypes and blood group A they will be said to be true breeders for blood group A. Note; 1A1O a heterozygote for same trait,( blood) is also blood group A because 1A allele is dominant over 1O allele. this heterozygous (1A1O) if crossed with 1A1A who are both blood group A, the offsprings will all not have same genotypes and phenotypes; therefore they are heterozygotes (These are not true- breeders) Cross fertilization; fusion of gametes formed by different individuals;
Soofia English Medium School Monohybrid/single trait hybrid; F1 offspring from two parents who breed true for different alleles of a particular gene e.g. offspring from parents with 1A 1A AND 1B1B; (All Off-springs will be heterozygotes 1A1B) Note; only one trait (gene) is considered, blood group in this case is considered and both parents are true breeders for each genotype (Each parent is homozygotes for this particular trait) Its di-hybrid cross if two alleles of different genes(traits)are considered in two parents that breed true for the two traits before crossing e.g. one individual pea plant that breeds true for both yellow and round seeds crossed with that which breeds true for both green and wrinkled seeds If more than two allelic pairs (traits/genes) are considered at same time before crossing=polyhybrid cross
Reciprocal cross; involves two crosses concerning same trait but with reversed sexes ; Example; if in first cross, parent with alleles AA is male and BB female, in second cross (reversed cross), we use female parent with alleles AA and male parent with alleles BB.
Test cross/back cross; using a known homozygote ( a true breeding individual) to fertilise /cross another organism in order to determine the genotype of that other organism; (Read gene interactions-complete allele dominance- for further explanation on test cross) Genotype; genetic composition of an organism usually with respect to specific gene or genes Phenotype; physical and detectable characteristics of an individual; In discontinuous variation, phenotype is controlled by genes only; usually one or small number of genes; eg blood group, eye colour, ability to roll or not roll tongue In continuous variation, phenotype is a result of additive effects of many genes, or geneenvironment interactions e.g. height, body weight, skin colour Gene interactions; Is the influence of alleles and non-alleles on normal phenotypic expression of genes; Single trait may be controlled by two or more genes; Gene interactions can be studied by looking at phenotypes of off-springs of crosses between individuals using Mendelian patterns of inheritance; then drawing; Genetic diagrams; Punnett square or by pedigree analysis; Note; pedigree analysis; is studying patterns of inheritance of a trait in generations of a human family; history of gene occurrence in a particular family line is studied by looking at presence of particular phenotypes like albinism, haemophilia, certain cancers in an individuals ancestral history;
Soofia English Medium School It is used because controlled crosses (experimental mating) cannot be performed in human; The person from whom study starts=proband; (male proband=proposiy; female proband=proposita; Advantage of pedigree analysis; It provides information to people on dangers of certain genetic defects which might run in their family before they decide to marry; eg albinism, Alzheimers, sickle cell anaemia; cystic fibrosis, Hutchingson-Gilford progeria (HGP)_this last is due to dominant allele that accelerates aging process by accumulating errors during replication at a faster rate, child seem normal at birth but age faster after one year; life span is only about 15 years then old age conditions like certain cancers, cataracts, osteoporosis, heart disease, type II diabetes kill the person etc; It offers alternative means of study of inheritance patters where experimental mating is not an option;
Disadvantages of pedigree analysis in study of inheritance; In some complex inheritance cases it merely shows the existence of a trait in a family line but no details on mode of inheritance; The small sizes of human families may lead to very large sampling errors; There is fairly long time between human family generations making it slow process; Its only useful in sexually reproducing individuals where number of off-spring is small; Example of Key used; Unaffected Male Unaffected female Sex unspecified Affected individuals/organism showing phenotype of the allele
Presumed heterozygotes ( the dot notation indicates sex-linked trait)
Mating; Mating between relatives;
Parents above & Children below in order of their birth; and the last child who is male is affected 16 | P a g e www.soofiaems.org
Soofia English Medium School The two types of gene interactions; Inter-allelic (=intragenic) Non-allelic (=intergenic)
Note; genes also interact with environment; Inter-allelic (=intragenic) gene interactions; Here two alleles of same gene (located on same gene locus on two homologous chromosomes) interact to produce a particular phenotype; Complete allelic dominance; a situation where information from a particular allele is fully expressed phenotypically even if another different allele of same trait is present. Out of two contrasting alleles in an individual, only one is phenotypically expressed The dominant allele; an allele whose phenotype is expressed both in homozygous and heterozygous states; Recessive allele; allele whose phenotype is not expressed in presence of a dominant allele eg individual 1A1O genotype in ABO blood group system, will only have A antigen on RBCs and is blood group A because allele 1A is dominant to allele 1O And 1B1O genotype mean only antigen B will be present on RBCs and the person is blood group B because allele 1B is dominant to allele 1O; One can only be blood group O if he/she is homozygous recessive, 1O1O. Recessive allele is formed when; one of normal alleles is changed and forms non-functioning enzyme or no enzyme at all; But not note that sometimes a gene can be changed yet it still leads to formation of normal enzyme which was being formed before the change (=silence/neutral mutation)
Soofia English Medium School Remember blood groups plus blood donations Blood group Antigen on RBCs Antibodies produced to plasma against antigens Anti-B Anti-A None Anti A, and B Can get blood from (Donors group) can give blood to ( recipients group)
A B AB O
A B A, B NONE
A, O B, O A,B,AB,O (universal recipient) O
A, AB B, AB AB A,B,AB,O (universal donor)
.Differences between dominant and recessive alleles; Dominant allele/factor/trait The only one Phenotypically expressed even when recessive allele is present(ie both in homozygous and heterozygous stats) Forms a complete enzyme/protein/polypeptide chain to express itself Recessive allele/factor/trait Fail to express in presence of dominant allele(in heterozygous stare) but only phenotypically expressed in absence of dominant allele Forms incomplete, defective polypeptide chain which results to failure to express itself when dominant allele is present
Explaining how dominance occurs; For the genes of traits that have variants (have alternative forms=alleles), Where one/more is more common= its called Wild type; Dominant alleles tend to be more common; This wild type allele; mostly encodes (leads to synthesis of) a normal protein in correct amount; By contrast alleles that have been altered by mutations (mutant alleles), are rare because they tend to encode abnormal proteins, some of which are lethal; A lethal gene/ lethal allele; agene/allele whose phenotype is capable of killing the organism that has it; Recessive alleles tend to be a result of these rare lethal mutations; A lethal gene; agene whose phenotype is capable of killing the organism that has it;
Soofia English Medium School Using test cross to explain inheritance of dominant and recessive alleles; Test cross/back cross; using a known homozygote ( a true breeding individual) to fertilise /cross another organism in order to determine the genotype of that other organism; It helps because phenotype alone sometimes cannot help us know exact genotype especially where there is a dominant and a recessive allele for the trait; Example; if allele B determines a colour trait as black and alleleb determines colour as brown; And B is dominant while b is recessive in a particular species of organism ; Though we can see the different colours (a phenotype) of members of this species, we cannot see genotype with naked eyes. (But we can use highly expensive and technical lab tests or simply use test crosses to determine genotypes;
Genotype of individual BB Bb bb
Phenotype Black Black Brown
If a member of this species has brown phenotype, we can say for sure the genotype is bb; Because genotype of recessive allele is only phenotypically expressed in absence of dominant allele; But if it is black its had to know whether its BB or Bb genotype by mere seeing this phenotype; Carrying test cross on a black member to get its genotype (Which could be BB/Bb therefore is unknown); Steps in test-crossing; Note; true breeding (pure line) individual= homozygotes; e.g. for recessive or dominant allele; First, get known true breeding (pure line) individual who is homozygous recessive for the trait to be one of the parents in the test cross; bb in our case should be one of the parents(could be male or female); Lets assume the black individual with unknown genotype has BB genotype (sex depend on sex of the chosen true breeding in 1. above) then cross it with our known true breeding bb; there are two possible results in this case;
Soofia English Medium School Test 1 ; using genetic diagram; Assume individual whose genotype is being tested was to be of black phenotype and genotype BB; Parents true breeding brown bb b b B individual whose genotype is being tested BB B
Parental genotypes Possible gametes
F1 Conclusion from test one;
Bb
Bb
Bb
Bb
Phenotype ratio will be 100% black if the individual whose genotype being tested was to be BB; Thus if all F1 are black, and we used a known true breeding brown parent (bb) to cross black parent whose genotype was unknown, Again, both parents contributed of the alleles in each off-spring; where the true breeder contributed one b and individual being tested one While our true breeder was a known bb, the individual being tested must have had genotype BB; because B allele is dominant over allele b; Thus each F1 off-spring =Bb B presence in all F1 masks phenotype b; Thus all F1 show phenotype of dominant allele B Test 2; using a genetic diagram; Assume individual whose genotype is being tested was to be of black phenotype and genotype Bb; Parents Parental genotypes Possible gametes b true breeding brown bb b B individual whose genotype is being tested Bb b
F1
Bb
bb
Bb
bb
Soofia English Medium School Conclusion from test two; F1phenotypes would be 2 black and 2 brown; While our true breeder was bb the presence of brown (bb) in F1 means the black unknown must have carried b allele which it passed on to some of its offsprings since each parent contribute of the alleles to each of their off-spring; Importance of allele/gene dominance; If a lethal recessive allele is present together with a non-lethal dominant allele, the negative effects of the lethal allele are not expressed (are masked); Note; law/principal of segregation state; When pairs of contrasting genes (alleles=allelomorphs are brought together, in an heterozygote (a hybrid), they just associate themselves during gene interactions; but dont blend into one another; Eventually, they separate into different cells during gametogenesis; Example; haemophilia in human beings; Blood lacks capacity to coagulate/clot; due to missing coagulation factor VIII; Inherited through sex linked recessive allele carried on X chromosome; Heterozygous female is phenotypically normal but carries the allele for haemophilia; Single gene (single haemophilia allele produces the disease in males; Because males have only one X chromosome and no chance of another X chromosome carrying the normal dominant; Treatment of haemophilia; Injection of missing clotting factor from other people; Disadvantage of this treatment; Risk of infection from donors Solution to this problem; from genetically engineered organisms; Another problem from this second option; itis very expensive; Sex linked inheritance in human=inheritance of genes on sex chromosomes; (ie X-linked/Y-link genes); Note; sex influenced inheritance pattern; occurs if an allele is recessive in one sex but dominant in the other;
Soofia English Medium School Eg patterns of baldness in humans; even though both male and females inherit the genes for baldness, only males tend to show the phenotype; Explanation; levels of sex hormones differ in the two sexes; their different concentrations affect some gene expressions differently; Inheritance of genes on sex chromosomes; X-chromosome is larger and has more genes than Y-chromosome in human; eg X-linked inheritance; In men, only the single X- chromosome is able to carry the X-linked genes allele; If only one sex chromosome has possibility to and is carrying an allele in an individual, while the other sex chromosome is not carrying allele for a given trait, the condition=hemizygous (not homozygous/heterozygous); e.g. sex-linked genes; Many recessive X-linked chromosomes cause diseases in human; How haemophilia is inherited; Example; recessive allele that causes haemophilia A (Xh-A); (blood does not clot normally); Normal allele for blood clotting =XH; Heterozygous females dont surfer from but only homozygous females do; A man whos only, single X-chromosome is carrying the allele (hemizygous Xh-A Y=) surfers; E.g. F1 production from heterozygous mother and normal male for haemophilia A allele;
A Punnet square If a mother is a carrier, XHXh-A; And the father is normal;

H H
MALE GAMETES XH FEMALE XH GAMETES XH Xh-A Xh-A Carrier Female (heterozygote) Xh-A Y Male with haemophilia A (hemizygote) X X Normal Female
H
Y X y Normal male
each of her child has 50% chance of inheriting the recessive allele but; in this case, 50% males will suffer from
Soofia English Medium School The disorder; This pattern is similar in all X-LINKED genes and are absent on Y-chromosomes; Note; blood clotting involves different substances called, clotting factors that includes fibrin protein, and ions like Ca2+; Some of these are produced by platelets while others are in inactive form in blood and only activated by cellular secretions and platelets upon injury of blood vessels exposing blood to extracellular substances;
Importance of blood Clotting Reduce loss of blood Prevents entry of pathogens in body ( this is immune fuction) Protect injured tissues from further physical damage
Injured tissue Releases
blood platelets (thrombocytes) brakes and releases
Thromboplastin
platelet factorb-3 (=platelet thromboplastin) Ca2+; + thromokinase enzyme Inactivates heparin (anti-clotting factor)& Help Catalyse conversion of;
Disadvantages of blood clotting Can cause coronary thrombosis and heart attack if it occur in coronary artery; If it occur in brain it can cause stroke; In lungs it cause pulmonary embolism; In leg vein=deep vein thrombosis; the clot may also break and move towards lungs;
Ca2+;
Prothrombin (formation is in liver; facilitated by; Vitamin K; its converted to;
Thrombin (which act as enzyme on) Fibrinogen (soluble protein) Fibrin (insoluble protein)
Note; aspirin is anti-blood clotting and normally given to stroke/heart attack survivors; its not given to stomach/intestinal ulcer patients as it accelerates bleeding in these organs
Fibrin + trapped red blood cells = blood clot;
Blood clot=thrombus; platelet=thrombocytes; Blood clotting in cases of injuries is considered normal; Blood clotting in cases of thrombosis= abnormal (=pathological,disorder)
Soofia English Medium School Characteristics of haemophilia A; (haemophiliac is one suffering from haemophilia disorder) Blood doesnt clot easily; Minor cuts bleed for long time; Minor bumps lead to large bruises because capillaries leak a lot of blood to surrounding tissues; Thus common accidental injuries pose huge threat of severe internal and external bleeding Co- dominance; the different phenotypes of two different alleles for same trait are independently and equally expressed when both are present in an organism; Heterozygote expresses traits of both alleles equally (simultaneously, co-); Function of each, protein from each allele, affects phenotype equally in the heterozygote; Examples; in ABO blood group system ; 1A and 1B alleles are co-dominant and equally expressed phenotypically when both are present ie both antigens A and B are formed on each RBC in sickle cell anaemia; Alleles HbA for normal haemoglobin and allele HbS sickle shaped haemoglobin; HbS allele replaces the 6th amino acid on -globin called glutamic acid with amino acid valine Normal Hb-A -globin peptide chain Abnormal Hb-S -globin peptide chain Val - His - Leu - thr - Pro -GluGlu Val - His - Leu thr - Pro - Val - Glu
key: Val = valine; His=histidine;Leu = leucine; Thr = threonine; Pro = proline; Glu=glutamic acid; HbSis a mutant lethal allele in homozygous state(HbSHbS) A lethal gene; agene whose phenotype is capable of killing the organism that has it; Note; HS allele only cause anaemia in low oxygen tension when in heterozygous state HbAHbS where half of haemoglobin/RBCs are normal and half sickle shaped because the two alleles are codominant; The two are co-dominant; Individuals with; individual with HbAHbA alleles has normal haemoglobin;
Soofia English Medium School HbAHbSalleles has the less severesickle-cell trait; 50% of RBCs are normal while 50% sickle shaped HbSHbS alleles has the more severe sickle-cell anaemia; In co-dominance the two alleles lead to synthesis of equally functional proteins in an individual; But they function slightly differently; e.g allele for A antigen and B antigen in blood group; Incomplete dominance;a heterozygous individual has phenotype intermediate between the corresponding homozygous individuals; Situation where effects of two different alleles of same trait blend (like results to fusion of the two traits) with each other; Reason; the 50% of the protein encoded by normal (wild-type) allele are not enough to produce the normal trait; E.g. in four oclock plant (Mirabilis jalapa ) Cross between pure red flower breed crossed with pure white flowered breed gives F1 that are all pink; R &W are superscripts Allele for red flower colour=CR and that of white flower colour=CW Note; unlike in complete domoninance where one allele is completely dominant and we use uppercase letter for the allele (eg R) while the other is recessive and we use lowercase letter for it (eg r) , In incomplete dominance, alleles are designated with superscript capital letters because neither is dominant. Example; cross between red and white Mirabilis Jalapa plants
Parents Parental genotypes
Red male CR CR
white female CWCW
CR Possible gametes
CR
CW
CW
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CR CW
CR CW
CR CW
CR CW
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Soofia English Medium School F1 genotype ratio= 100% heterozygous (CR CW) F1 phenotype ratio=100% pink; Note; one parent was red,( genotype, CR CR) while the other was white( genotype, CW CW ); It leads to totally different phenotypes in F1 from those normally expressed by the same alleles when the alleles are present alone (when in homozygous states)
Note; what happens if the above F1 is crossed Parents Parental genotypes CR Possible gametes pink male CR CW CW CR pink female CR CW CW
F2 F2 Genotype ratio=
CR CR
CRCW
CRCW
CWCW
1homozygous for red allele (1CR CR ):2heterozygous(2CR CW ):1 homozygous for white allele(CW CW) F2 phenotypes=1 red flowered:2 pink flowered:1 white; Note; 1:2:1 ratio is see in F1 of in incomplete dominance where both parents are heterozygous; 3:1 ratio is seen where one allele is completely dominant over the other and both parents are heterozygous for the trait; Variations; Differences among individuals of a species including off-springs of same parents Organisms tend to change themselves in order to adapt to changing environments; otherwise they get less fit to survive; and may perish; Two causes of variations= mutations; and exposure to different environments; Two broad criteria of classifying variations; (A) Degree of differences produced; (B) Nature of cells it affects; (A )variations classified according to degree of differences produced; Continuous and discontinuous variations; 26 | P a g e www.soofiaems.org
Soofia English Medium School Discontinuous variation;
Traits of organisms are clearly different from one another; (No intermediates in the character in question); Only few forms; of the trait are often present; The differences are due to gene mutations; The mutant genes are usually stable (these can be inherited); Usually due to only one or very few genes interacting with one another; Only gene differences cause discontinuous variation; no intermediate between parents and mutant; Example (such as eye colour, tall + dwarf peas, red hair, albinism, sex, blood group) You can draw a relevant graph; Continuous variation (fluctuating variation) There are small differences in a trait from one to the next/ there is a wide range of a particular trait; There are many forms of a particular trait; Extremes at either end may show considerable difference ; Its caused by many genes interacting with each other + the genes interactions with environment; Usually unstable and not inherited; Examples; Range of skin colours due gene interactions with different sun light intensities ; by different people in different parts of the world; height; body weight; different fruit/seed sizes of plants from same parents ;(all these may be due to difference in nutrient availability, light intensities in case of plants Can be represented by smooth curves; Variations are not so far from average mean; You can draw a relevant graph;
Soofia English Medium School (B)Variations classified according to nature of cells involved; (somatic or germinal variations) Somatic variations; affect non-gametic cells; Are acquired during life and not inherited from parents=acquired variation; Not passed on to next generation; Causes (a)Environmental factors like; (i) Climate factors like high light intensity increasing melanin production in skin epidermis; (ii) Nutrition; e.g. bee larva fed on bee bread (honey plus pollen grain) grow to a worker; While that fed on royal jelly (secretion from mouth of nursing workers) grow to a queen (iii) Plants in less water soil are modified to minimise transpiration rate (iv) E.g. of Fendulus fish put in water with little magnesium chloride hatch to fish with single media eye instead of two lateral eye (b) Use and disuse of organs; Person using left hand to write do so nicely; Modern man eats softer food leading to weaker teeth; Daily exercise leads to development of stronger, larger and more muscles; (c) Conscious effort; Castration; Mutilation eg cutting horns, making holes on nose, ear pinna; Hair, bearded or moustache styles;Smaller feet by wearing smaller shores; (d) .Mutations in somatic cells; Mutations in particular somatic cells may lead to; Genetic mosaics; presence of two genetically different cell types in the body of an organism; Its more pronounced if it occurs in early embryo stages; If its gene mutation that leads to non-stop cellular divisions, we call the condition where cells of particular body parts divide non-stop cancer Note; an overgrowth of cells that serve no useful purpose Sarcoma=tumor of connective tissues like bone or cartilage
Soofia English Medium School Germinal variations; Are due to difference genetic make-up of germ cells (reproductive cells or cells that produce reproductive cells) The variations can pass to next generation; through sexual reproduction; E.g. blood groups, colour blindness, baldness, eye colour, albinism, sickle cell anaemia, trisomies like trisomy-21=Downs syndrome/mongolism Germinal variations are caused by;(recombinations and germ line mutations) Recombinations; ;=mixing of maternal and paternal characters in sexually reproducing organisms. Organisms which express characters of both its parents=recombinant; Ways leading to recombinations; Independent assortment of chromosomes during gametogenesis Law of independent assortment states; The genes on different pairs of chromosomes segregate independently into new cells during meiosis; Crossing over in meiotic prophase-1 Its exchange of genes between non-sister chromatids of homologous chromosomes Significance of crossing over; -Produce new gene combinations; -Provides indefinite store of gene variations in sexually reproducing organisms; -Useful recombinations are used by plant and animal breeders Random nature of fertilization; These three lead to reshuffling of existing genes/(traits); Different gene combinations lead to diversity of genotypes and phenotypes; But sum total of genes(traits) remain same in the population; Note; sometimes genes from one species may be introduced into another species like during interspecies mating; Migrations may lead to mating between different populations that have alleles whose frequencies are different;
Soofia English Medium School Mutations ;( may be chromosomal or gene(point) mutations)
Mutation; sudden, inheritable, change in genetic make-up of an organism or cell./sudden, inheritable permanent change in genotype. Can occur in any type of living cell; Mutant=product of mutation; can be allele/allele, cell or entire organism; Germ line mutations can occur in cells that produce gametes/in gametes In sexually reproducing organisms, its mutations in gametes (germ mutation) that can be passed to next generations through reproduction; Mutations rates for individual genes are very low; Note; Mutations may be beneficial, harmful or neutral (no positive/negative effect) Both beneficial and harmful mutations lead to change in phenotypes; Beneficial mutations lead to better environmental adaptability and greater survival chances by organism while harmful ones decrease adaptability and survival chances. Causes of mutations; Natural; from errors during DNA replication These are sometimes corrected by cells own mechanisms Some chemicals like nicotine, benzene Radiations eg UV, X-ray, gamma, Alpha and beta Mutations can be artifially induced using chemicals eg nitrous acid, nitrogen mustard, acridine dye,or physical means eg temperature rise decline, high energy radiations like X-rays,gamma ray Physical/chemical agents used in artificial mutations=mutagens Carcinoma; cancer of epithelial cells Carcinogens; agents that increase likelihood of cancer development ( are usually mutagens) The two main types of mutations; 1. Gene mutation (point mutation);eg. Sickle cell; haemophilia; cystic fibrosis; albinism; 2. Chromosomal mutation =numerical changes in chromosomes;
Soofia English Medium School Examples; trisomies or monosomies like Trisomy-21 (downs syndrome/mongolism); (1). Gene mutation (point mutation); stable change in genes along DNA chain; This leads to rise of new alleles; alters original information conveyed a that gene Examples of gene mutations; Sickle-cell anaemia; Normal RBCs allele is HbA; Mutant sickle cell allele, HbS cause formation of sickle shaped haemoglobin and & sickle shaped RBC; the two alleles are co-dominant; Albinism; Lack of gene for melanin production; Result; eye iris is pink; and unpigmented skin that are easily damage by sunlight; Poor vision and increased chance of development of skin cancers caused by UV rays White/pale yellow hair; Haemophilia; blood does not clot normally Cystic fibrosis Usually, chloride ions, Cl-, pass across epithelial cell membrane through particular protein channels; Cl- concentrations affect transport of water across the cell membranes; (CFTR= Cystic Fibrosis Trans-membrane conductance Regulator); The ions make mucus less thick; In cystic fibrosis Gene for the cell membrane protein that facilitates passage of chloride ions, Cl-Is absent, Thick mucus comes out of cells instead of watery mucus; Because water is retained in the cells; It is effects are seen mostly in lungs, pancreas, liver and sweat glands; Effects; Thick mucus stop digestive enzymes from pancreas and liver from reaching duodenum; so no digestion and absorption of nutrients like lipids; leading to nutritional disorders; Mucus block lungs; Increasing rate of lung infection, especially children; www.soofiaems.org
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Soofia English Medium School Because trapped foreign particles plus the thick mucus accumulate in lungs; a lot of salt is lost in sweat because of the transporter that normally recycle the salt back into skin cells from sweat;
Common test for the disease is measure of salt on skin; a normal functioning Cl- ion transporter is needed for proper development of of sperm ducts during embryo stages.
its absent leads to absence/under development of sperm ducts and infertility; Phenylketonuria; Cause; recessive gene; carried in autosome chromosome; only homozygous state cause the disorder; Enzyme phenylalanine hydroxylase is absent in the individual and excess amino acid phenylalanine is converted To pyruvic acid that damages brain; Lead to very bad smelling urine; Under developed teeth; These individuals should not eat food that has this amino acid; and if they avoid this from birth, they develope normal; This is an example of how genes interact with environ ( also genes for baldness);
2 .Chromosomal mutation; alters number or position of exiting genes; this happens in two ways; Mutations due to Physical(morphological) chromosome modification; occurs through; -Deletion; section of chromosome breaks and get lost; Deficiency occurs ; -Duplication; deleted chromosome section gets attached to the homologous pair of that Chromosome; -simple translocation; deleted chromosome section get attached to another nonhomologous chromosome; When the two chromosomes exchange pieces=reciprocal translocation; -Inversion; broken section of chromosome is put back in same place but in an inverted state Mutations due to Change in normal chromosome numbers; Note; ploidy= complete sets of chromosomes (complete pairs of chromosomes); 32 | P a g e www.soofiaems.org
Soofia English Medium School Chromosome numbers may vary in two ways; Chromosome mutation In terms of change innumber of chromosome sets;
Euploid=organism viewed to have chromosome number seen as normal; (Eu=true); Example; in diploid species, euploid organism has 2 sets of chromosomes in somatic cells (2n), Polyploid=Organisms with 3 or more sets of chromosomes Its triploid if its 3 sets 3n; tetraploid if 4sets, 4n and so forth; Chromosomal mutations In terms of change of individual numbers of chromosomes;
Some chromosomes may be in their correct sets while others excess or missing; aneuploid; alterations in numbers of particular chromosomes; Total chromosome numbers are not exact multiples of sets; Examples; Trisomies= 2n+1=47 chromosomes in human instead of 46; Mean there is one extra chromosome; in a normally diploid (2n) organism; A rise from one normal gamete=n + abnormal gamete=n+1; zygote=2n+1; its named according to which chromosome is extra; eg trisomy-21 if the excess chromosome is chromosome number 21; Trisomy-21=mongolism/Downs syndrome; Symptoms and signs of Downs syndrome=trisomy-21 (47 chromosomes) Low intelligence; Small brain size; permanently open mouth; Broad fore-head; flat face; Presence of eye-lid folds; extended tongue; abnormal pattern of palm; flat palms; Short neck; Short in height; Slanted eyes; Trisomies and monosomies occur due to non-disjunction during gametogenesis; Chromosomes dont properly move to opposite poles at meiotic cell division; Like trisomy-21 is only common in higher aged mothers 35-40 years; Its not inherited normally; Note; there is familial (inheritable Downs syndrome caused by translocation of major portion of chromosome 21 to chromosome 14; These individuals have normal 46 chromosomes with partial trisomy -21; Other trisomy is trisomy-13= Pataus Syndrome; characterised by malformation of organs
Soofia English Medium School eg extended heel; cleft lip and palate; deafness; mental disorder; large triangular nose; early death; Klinefelterssyndrome; with extra X-chromosome = XXY (44+XXY =47 chromosomes); Individual is male, under developed reproductive parts no sperm, infertile;breasts swell; Jacobs syndrome;44 +XYY; male; tall; Triple X/ Meta- female; 44+XXX=47 chromosomes; No secondary sex traits; tall and thin ; irregular menstruations; Monosomies ;=(2n-1); Caused by non-disjunction like trisomies but here one chromosome is missing one normal gamete=n + abnormal gamete n-1=2n-1 zygote; Examples; Turners syndrome;=XO ; lack one X chromosome; Infertile female ;poorly developed ovaries, uterus and breasts, no oogenesis; short body; webbed neck; mental disorder; body swells laterally (peripheral lymphedema); Diagrammatic presentation of above types of numerical chromosome variations;
Numerical changes in chromosome numbers
Euploidy monoploidy (n ) diploidy (2n) poploidy (3n,4n,5n etc) hypoploidy Monosomy (2n-1)
aneuploidy hyperploidy trisomy ( 2n+1) tetrasomy ( 2n+2)
nullysomy ( 2n-2)
Note; sometimes variations is due to different species breeding Alloploid; organism with at least one set of chromosomes from two or more species; (Allo=different; ploidy=chromosome sets); Allodiploid; Alloploid with 2n (diploid/one set) of chromosome number from two diffent species; If there are more than 3/more sets of chromosome from two or more different species=allopolyploid (e.g. allotetraploid 4n; contains 2 complete sets ; set mean a pair thus 4n/2=2n=2 sets
PULATION GENETICS ( Note: The purpose of including contents from here to page 36 is only to help students to understand variation and evolution ) Gene pool; all genes in a population Reproducing individuals contribute to the gene pool of next generation Population genetics studies ; genetic variation within gene pools, and how the variation change from generation to next It is often done by studying allele variations within the population Population; group of individuals of same species. The individuals can interbreed with each other. Species; Single species may exist in two separate populations that are slowly evolving into different species If they are separated for only short time, the two populations remain similar But if they are separated for a long time, enough changes may occur so that the two populations become totally different. When some differences are clear but biologists think are not enough to put the two groups into different species, they may be put into sub-species Speciation; (evolution); formation of new species from pre-existing one. Most commonly used characteristics to identify species Physical (morphological) traits; Ability to interbreed; Common evolutionary lineage; Ecological factors; The different approaches for distinguishing species = SPECIES CONCEPTS; Generally, a species is a group of organisms that maintain particular sets of traits in nature; SPECIES CONCEPTS 1. Biological species concept; group of organisms able to freely interbreed in nature to produce fertile (viable) off-springs. 35 | P a g e www.soofiaems.org
Soofia English Medium School They are reproductively isolated; ie do not succefully interbreed in nature with members of different species.
Problems; Some organisms only reproduce asexually Some different species are known to be able to interbreed in nature but often maintain populations of different characteristics based on phylogenetic species concept. Eg in plants like Yucca pallida and Yucca constricta. It may not be easy to determine reproductive isolation in nature if there are two large populations with overlapping geographical rages 2.Ecological species concept; group of organisms that successfully occupies an ecological niche or habitat in terms of use of resources and environmental impact. It is used for organisms that do not reproduce sexually like bacteria but certain groups (species) are likely to use same resource types like same sugars and vitamins, and grow under same conditions of eg temperature, pH. 3. Phylogenetic species concept; group of organisms with similar unique combinations traits These are often anatomical (morphological) like cell wall. Molecular characteristics can also be used eg DNA sequences Advantage; it can be applied to all types of organisms 4. Evolutionary species concept; group of organisms of a single lineage( from a common ancestry.) It has its own evolutionary tendencies and historical fate. The lineage is different from other lineages A lineage; is the genetic relationship individual or groups of individuals and its ancestors. Problems; its difficult when to draw the line ie what percentage difference in DNA sequence should be used to differentiate species is it 0.1, 1, 5 etc. some tiny genetic change lead to big change in phenotypes and many genetic changes have no detectable changes in traits ( neutral mutations)
REPRODUCTIVE ISOLATION MECHANISMS; Mechanisms that prevent one species from successfully interbreeding with other species It helps to maintain uniqueness of each species The two categories of reproductive isolation mechanisms pre-zygotic (reproductive isolation mechanism) post-zygotic (reproductive isolation mechanism) Pre-zygotic (reproductive isolation mechanism) habitat isolation; species never get in contact because they occupy different habitats temporal isolation; species have different mating or flowering seasons or times of day or get sexually mature at different times of the year behavioural isolation; differences in physiology or behaviour or behaviour limit sexual attraction between male and females of different species mechanical isolation; morphological features like size and incompatible genitalia may prevent interbreeding gametic isolation; gamete transfer occur but fail to unit because of either they; (a) fail to attract (b)fail to fuse (c) male gamete is inviable in reproductive part of female of another species In plants, pollen grain of one species often cannot generate pollen tube to send sperms to fertilize egg cells of another species if fertilization occurs and zygote is formed
Post-zygotic ;( reproductive isolation mechanism) Hybrid-viability; after fertilization between egg and sperm of different species, zygote fail to develop past early stages. 37 | P a g e www.soofiaems.org
Soofia English Medium School Hybrid sterility; inter-species hybrid survive but it is sterile e.g. mule (From cross between male donkey=Equus asinus and female Horse=Equus caballus) 3. Hybrid breakdown; F1 of interspecies hybrid is viable and fertile but following generations get increasingly inviable. This is often due to increasing formation of less- fit genotypes by genetic combination Significance of variations; Its the raw material for evolution It make some organisms better fit in the struggle for existence Helps in adaptations of individuals to changing environment Useful variant organisms can be produce by introducing variations It forms basis for heredity Provides each individual its distinctive individuality Natural selection evolution/speciation and artificial selection; Definitions; Evolution; Natural selection; Note; artificial selection; Principles of natural selection and Evolution; Charles Darwins and Alfred Wallace independent main postulates (key points in the theory); Geometric increase in of off springs; Limited food and space; Struggle for existence; Variations; Natural selection/ survival of the fittest; Inheritance of useful variations; Speciation; Geometric increase in offspring numbers; Organisms reproduce more off springs than natural resources can support;
Soofia English Medium School Eg a paramecium divides 3 times by binary fission in 24hours and is able to produce 280 million paramecium in just one month! In five years it can produce paramecium whose total mass is 10,000 times more than earths mass!
Limited food and space; Though population tend to increase geometrically, food increases only arithmetically; Space on earth is almost constant; Food and space together determines carrying capacity of the environment; They are limiting factors that do not allow indefinite population growth; Ensures populations do not grow indefinitely except for seasonal fluctuations; Struggle for existence; Due to the rapid multiplications but limited food and space; There is everlasting completion between organisms; This is; - Between members of same species (intraspecific);eg two dogs struggling for a female/piece meat Intraspecific competition has the greatest effect, in reducing numbers; - Between members of different species (interspecific); eg predator and prey - Extra-specific (environmental); between organisms and adverse environmental factors like floods , cold, earthquakes ,light, heat in death and life struggles, majority die before reproductive age; Variations; No two individuals except few cases like identical tweens (monozygotic twins); The everlasting completions and changes in environmental factors, have forced organisms to change according to conditions in order to use the limited natural resources; Populations are heterogeneous; Darwin stated two general variation types; continuous and discontinuous; But the variations can be neutral, harmful or useful; He stated that organisms tend to adapt to environmental changes using useful continuous variations like increased speed in potential prey, increased water conservation in plant; 39 | P a g e www.soofiaems.org
Soofia English Medium School That discontinuous variations tend to be sudden harmful thus so rarely select to survive by nature; Note; main source of heritable variations upon which natural selection works is mutations;
Natural selection/ survival of the fittest; In a population, Nature selects those best fit/best adapted to environment and allow them to survive (with useful variations) while; Those less fit/unfit perish; Natural selection is thus a restrictive and not a creative force in terms of individualsnumbers; If man selects individuals with qualities he/she desires, it artificial selection; Inheritance of useful variations; Individuals that are selected and survives to reproductive age; Pass on their useful continuous variations to their offspring; Who are in tern born fit to survive in the changed environment; Speciation; The useful variations appear in every generation; and are inherited; So they accumulate in successive populations; After a number of generations; The variations get so big that new species is created; So evolution is a gradual process of formation of new species through gradual changes in preexisting species; EXAMPLES OF NATURAL SELECTION; Industrial melanism in England ( eg in Birmingham; Before 1830s there were no much industries in England; and There were oak trees with greyish lichen on their barks; There were mainly grey peppered moths (Bistonbetularia); This rested, during the day, on similar coloured back ground on oak trunks; This offer an adaptation in defence from predator birds; After 1830s rapid industrial growth occurred;
Soofia English Medium School Coal was increasingly used as main industrial energy source; Industrial smoke killed lichens; and Tree barks darkened; So the grey coloured moths got more visible to birds against black tree backs; Then a heritable dominant gene mutation that produced dark coloured moths (melanic Species) in some moths (by 1845); These dark moths, (Biston carbonaria),had better survival chances in this new environment; Than the grey-coloured ones; The dark moths had better reproduction chances; They formed about 99% of moth population by 1895; Thus natural selection favoured the melanic species due to industrial smoke; Replacement of light coloured (grey) moth species with melanic moth species=Industrial Melanism; This only occurred in industrial areas in Europe but not in non industrial areas; Thus mutation causes variation if natural selection favours a particular variant over the other speciation/evolution occurs; In 1956 clean air law was passed in England; Coal was rapidly replaced with oil and electricity as energy sources; Black soot on tree trunks reduced; and Tree trunks got lighter again; Light coloured moths had better survival and reproduction chances; Their populations increased again while dark moths populations declined; This is called reverse Evolution; DDT- resistant mosquitoes Mosquitoes transmit disease causing parasites like Plasmodium (cause malaria), Wucheria (cause elephantiasis); Before introduction of DDT as pesticide against in insects like mosquitoes; Mosquitoes resistant to DDT were less; than those that could be killed by DDT; But after introduction of DDT (in 1940s); DDT resistant mosquitoes had better survival adaptation in DDT environment; DDT resistant mosquitoes became more than those sensitive to DDT; 41 | P a g e www.soofiaems.org
Soofia English Medium School and now they are the dominant ones population wise; (this is directional section)
Sickle cell anaemia; Cause of sickling of Haemoglobin; Its caused by a Mutant HbS which leads to sickle-shaped Haemoglobin; If its in homozygous state HbSHbS, all RBCs are sickled; If in heterozygous state, half of RBCs are sickle shaped while half are normal; Sickle cell allele has both disadvantage and advantage; Disadvantage of sickle-cell allele/signs and symptoms seen in people with sickle cell allele HbS; -Normal RBC haemoglobin (Hb) gene HbA is replaced with abnormal, mutant HBS allele; Unlike normal globular Hb, the abnormal Hb has long, rigid protein strands -in low oxygen environment, the haemoglobin & RBCs tend to be sickle-shaped &sticky ; -the sticky, sickle-shaped RBCs block blood vessels like veins and blood capillaries;(where O2 is low) - after sickling the RBCs die quickly leaving very few RBCs in body; The result of all these; 1. Sickled RBCs have low lifespan; die quickly leaving body with less RBCs 2. Capillary blockage cause waste accumulation in body 3. Less nutrient and oxygen supply to tissues ( anaemia);which cause damage of several organs like: Muscles weaken, brain damaged, heart & kidney failure, etc which leads to death(leads to low life expectancy); the anaemia is more severe in homozygous state of the allele , HbSHbS=sickle cell disease; Note: sickle cell trait The anaemia is less severe (mild) in heterozygous state(HbAHbS= sickle-cell trait); In sickle cell trait the normally less severe anaemia worsens as; oxygen tension in air decreases; and if individual engages in heavy physical activity The differences between homozygous (HbSHbS=sickle-cell anaemia) and heterozygous (HbSHbS=sickle-cell trait) are because; HbA and HbS alleles are codominant thus are both phenotypically expressed when together; 42 | P a g e www.soofiaems.org
Soofia English Medium School 50% of RBCs are normal biconcave while 50% are sickle shaped; Its more severe in homozygous state (HbsHbS sickle-cell disease); because all RBCs are sickle shaped so the anaemia is more severe (lethal); this drastically lowers life expectancy; causing death at around puberty; How natural selection has kept sickle cell allele in malaria prone places/advantage of ,HbS Homozygous state (HbSHbS) is life-threatening/has lowest fitness; due to development of sickle-cell disease; Heterozygous state, HbAHbS has only a mild form of the anaemia called sickle cell trait;
( have 50% of RBCs are normal biconcave while 50% are sickle shaped); Homozygous HbA HbA is life-threatening/has lowest fitness in malaria prone areas; Homozygous state for normal allele, HbA HbA, all RBCs are normal; But one normal RBCs are less fit than sickle-shaped RBCs if plasmodium enter in them; Heterozygous stat ,HbAHbS offers highest fitness( advantage) where there is malaria ;
Heterozygous state, HbAHbS has 10-15% better survival chance in; Thus in places where there is malaria HbS allele is maintained in population (Mostly in heterozygous, HbAHbS state; 1/3 of people in malaria areas carry allele HbS) ; Even though the allele is lethal in its homozygous state ,HbSHbS; This is why sickle cell mutant allele HbS persists in malaria prone areas is. Malaria is responsible to about 1 million annual deaths; and 30 millions severe illnesses; Its common within the tropical regions; How does sickle cell gene (HbS) lead to increased malaria resistance? It leads to formation of sickle-shaped haemoglobin and sickle-shaped RBCs; The sickle shaped RBCs carry less oxygen; when plasmodium get into them; and the parasite carry out its metabolism; the parasite quickly finish the already low oxygen in the RBCs; the RBCs sickle and are destroyed and together with the Plasmodium; this limits plasmodium ability to multiply in the sickle-shaped haemoglobin; its also thought heterozygous state leads to bodies better immune response against plasmodium; Note; natural selection does not always lead to total elimination of the less fit alleles;
Soofia English Medium School But balancing section occurs sometimes; a type of natural selection that maintains genetic diversity of in a population; Over many generations it creates; a stable/balance polymorphism; In which two or more alleles of a given trait are kept in a balance and maintained in a population; Balancing selection does not favour one allele over the other in a population; Two common patterns of balancing selection occur; balancing section favouring heterozygotes and not either of the homozygotes; ie heterozygote advantage; Example; sickle cell allele explained above; Negative frequency-dependent selection; Genotype fitness decrease as frequency gets higher; Rare individuals have higher fitness; Common individuals have lower fitness; No genotype becomes too rare or too common; (balanced polymorphism attained); Example; Orchid Dactylorhiza sambucina; in elder-flowered orchids there are both red and yellow flowered individuals; Main pollinator is bumblebees which increase their preference for the flower whose colour get less common thus more pollination of the flowers as they get less common. Reason; Dactylorhiza sambucina doesnt reward its pollinators with nectar; so pollinators are most likely to learn the more common flower of a given colour doesnt reward and tend to try the least common;
Artificial selection/selective breeding; Note; in natural selection its forces of nature that determines which organisms survive to reproductive age and breed; In artificial selection its; Human beings chose certain organisms with characteristic that he/she wants and considers fit Artificial selection; selecting domesticated organisms for breeding on the basis of their needed genetic qualities by man; Populations are often heterogeneous (have variations=not homogeneous)) and man takes advantage of this; Artificial selection is only possible if the desires variation in phenotype has been caused by variations in alleles (in genotype); And thus can be inherited; Mechanism/procedure during artificial selection; man selects individuals with desired phenotypes (if the phenotype is due to genotype); selected individuals (parents) are interbred; process repeated for many generations; till new breed with desired characteristics are produced
Examples of products of artificial selection; Many current breeds of dogs; fruits; grains, like corn, rice, cotton; vegetables e.g. cabbage, cauliflowers, sprouts, Brussels, broccoli, produced by selective artificial breeding of wild mustard plants (Brassica oleracea); meat, milk Drug resistance due to excess /incorrect use of pesticides and antibiotics Eg.drug resistance in bacteria; due incorrect use of antibiotics Addition of antibiotics in animal feeds;
Sample quiz1; Species D lives in a forest. Fig. 2.1 shows what can happen, over the same period of time, if some members of species D migrate from the forest to a desert region. Migration Species D continues to live in the forest to desert region
Variation
Natural selection
Further variations
Further natural selection
Species D continues
species D has become species E
(a)Name the two main causes of variation in organisms. 1.genes / mutation / named common mutagen; 2. Environment / habitat / named environmental factor; [2] (b) Name the process involving variation and natural selection that has led to the development of species E.Ans=; evolution / speciation; [1] (c)Suggest how the processes of variation and natural selection may have acted to produce the new species E in the desert. Ans=;. Different/changed environment; Caused mutation(s); that lead to variations; better adapted individuals; Survived; These reproduced and passed on; their unique genes; Which accumulated over many generations? 46 | P a g e www.soofiaems.org
Soofia English Medium School Leading to change in phenotype / appearance /; Thus new species emerged/new species evolved/speciation occurred;[Max 10] (d) Members of species D are no longer able to breed successfully with members of new species E. Suggest reasons for this. Ans=; Difference in genes/DNA; Difference in chromosomes; Problems with fertilisation; No sexual attraction / incompatible; Geographical separation; [Max 2] quiz. 2Explain how some bacteria develop antibiotic resistance after initial exposure to the antibiotic OR Explain how misuse of antibiotic/using antibiotics as food additives in animal feeds can lead to development of new species of bacteria that which is resistance to that antibiotic. Ans. Different/ the changed environment of antibiotic; Caused mutation(s); that lead to variations; Better adapted individuals to antibiotic; Survived; These reproduced and passed on; their unique genes; Which accumulated over many generations; Leading to change in phenotype / appearance /; Thus new species emerged/new species evolved/speciation occurred; [Max 10]
Quiz 3.Similar crops were grown on the same farm over a five-year period. Fig. 2.1 shows the effect on the number of insects present on the crops when an insecticide is used in each of the five years. 100 insects present / % of original number
0 0 spraying of insecticide started time/years (a). State one way an insect might be; (i) Helpful to the crops Ans.Pollination / consume other pests / decompose dead organic matter to release ions; (ii) Harmful to the crops. Ans ....may cause disease/may consume and damage plant tissues; .[2] 1 2 3 4 5 time/years
(b)Explain why the percentage of insects began to rise in the second year until almost reaching its original level. ANS. Mutation; lead to variation; natural selection occurred; resistant varieties ; survived in presence of the insecticide; these survivors breed; and passed on; genes that allowed resistance; more / greater proportion of resistant individuals produced each year; this may have been due to less insecticide sprayed ; 48 | P a g e www.soofiaems.org
Soofia English Medium School OR there may have been immigration into the of already resistant individuals; [max 5]
(c) Suggest three methods of improving the yield from the crops without the use of an insecticide. Ans=; use fertiliser; use seed from pest resistant crops; artificial selection; grow genetically modified crops; use biological methods of pest control; better harvesting methods; crop rotation; irrigation; use greenhouses / nets; pick off insects manually; fungicides ; [3] (f) State significance of variations in populations. Ans=; Its the raw material for evolution; It make some organisms better fit in the struggle for existence; Helps in adaptations of individuals to changing environment; Useful variant organisms can be produce by introducing variations; It forms basis for heredity; Provides each individual its distinctive individuality; (4) Quiz 4; Normal tomato plants are diploid (2n), having two sets of chromosomes in each cell. However, some tomato plants are triploid, having three sets of chromosomes (3n) in each cell. This can be an advantage as these plants produce larger fruits. (i) Suggest a reason why it may be a disadvantage to have three sets of chromosomes. Ans= Ans=;.Interferes with meiosis (meiosis not possible) , fertility and sexual reproduction seed formation is impaired.. (ii) Suggest why the triploid condition is more common in plants than in animals. Ans. Many plants can reproduce asexually; meiosis is not involved in asexual reproduction; mitosis is not affected by triploid condition; triploids survive better (are more hardy) [2] (c) Explain how two parents who do not have Downs syndrome can produce a child who has the syndrome. Ans.=; Mutation; during meiosis in one parent; one gamete ending up with extra chromosome number 21 this gamete fertilizes another normal gamete; zygote ends up which 47 chromosome (trisomy 21)
Quiz 5. (a) State where DNA is found and describe its importance in living organisms. Ans=; Nucleus / plasmids / chloroplasts / mitochondria; Found in chromosomes / genes / contains genetic information; (contains genes is wrong) ; can be copied / inherited / ref responsible for characters (characteristics) ; Controls production of a protein; [max 3] (b) Describe the causes of (i) Sickle cell anaemia. Ans=; Genetic disorder; due to gene mutation; of Hg gene ; leading to change in Hb molecule in RBCs to sickle shape ; (ii) Downs syndrome. Ans; Genetic disorder; due to chromosome mutation resulting in one extra chromosome 21 in body cells; hence 47 chromosomes instead of 46 in body cells [6] (c) Explain, with the use of a genetic diagram, how a child may be born with a blood group different from that of either parent. Note; that you are expected to know ;alleles for ABO blood group system as example of both dominant and co-dominant alleles which are alleles, 1A,1B and 1O .This why the alleles are not given in the question a bove. Direction; Your genetic diagram must containcorrect genotypes of parents (A A,B,O/IA,IB,IOIA,IB,IO/ only) ; Gametes below parents phenotypes / blood groups of both parents (A B as Group B etc.) ; Gametes correctly shown in circles; Gametes; linked by lines to the offspring,; offspring correctly identified + with different stated blood group / phenotype ; any correct descriptive term (gametes / parents / genotype / children ) ; [max 4]
Quiz 6. In the inheritance of the colour of mouse fur, the allele for yellow fur (D) is dominant to the allele for grey fur (d). (a) Two heterozygous yellow-coloured mice produce offspring. Use a fully labelled genetic diagram to show how the colour of mouse fur is inherited by the offspringANDState the expected ratios of genotypes and phenotypes in the offspring.Ans=;
Parents father Parental Possible gametes
mother genotypes D Dd d D Dd ; d
First generation (F1)
DD
Dd
Dd
dd;
Note;( put gametes in circles separately*) ; (Correct symbols from question must be used) Expected ratios= Genotype ratio= 1Homozygous dominant Phenotype ratio; 3yellow : 1grey ; [6] : 2rozygoushet : 1homozygous recessive ;
A particular combination of these alleles is known as a lethal combination. Young that inherit this combination die in the uterus during the very early stages of development. This results in a 2:1 ratio of fur colour in the surviving offspring. (b) Identify the lethal combination of alleles and explain how you reached this answer. Lethalcombination=.....DD................. Explanation; DD; leaves ratio 2 yellow(2Dd) : 1 grey(1dd); But if it was Dd we would have 1DD(yellow) :1dd(grey)
Soofia English Medium School Alsodd would leave 1DD and 2Dd(which gives all yellow) [3] Quiz 7. Sketch adiagram showing a parent plant (A) and two of its offspring (B and C). Note;A Is a plant that has stolon (runners). Draw it and its off-springs B and C still attached to it Label oneleaf as D, root as E and stolon as F.
(a) Name the type of reproduction shown in Fig. 1.1. Ans= ;asexual/vegetative ;[1] (b) State a disadvantage to the plant species of reproducing in this way. Ans=;no variation or same genes as parent / no evolution / overcrowding / susceptible todisease / no resistance to environmental change ;[1] (c) State two commercial advantages of this type of reproduction.Ans=; (Note; one mark per line, mark the first given): Ans=; No wastage / offspring well established before separating (R chancy unqualified) ; Quick / only one parent needed; Offspring of known characteristics / genetically identical; More profit; [max 2] (d).With reference to structures D, E and F, explain how plant C is able to grow before it becomes attached to the ground. Ans=; Structure (D); carries photosynthesis; Manufacture carbohydrates like glucose, vitamins, amino acids (if just say food, no mark is given) ; Structure (E); absorbwater; ions / salts / minerals (Reject nutrients) ;Anchorage; Structure (F); carries / transports AW + *water / *salts; Before roots develop AW ; Carries / transports + *sugars (R glucose) / *amino acids ; Correct functional ref. either xylem or phloem; [max 3] 52 | P a g e www.soofiaems.org
Soofia English Medium School [Total: 11]
Quiz 8; Cultivated banana plants produce fruits with seeds that are infertile (unable to develop). Wild banana plants produce fruits with large, fertile seeds. (a) Suggest the type of reproduction usually found in cultivated bananas;Ans=asexual/vegetative; wild bananas=Ans=;sexual ; .[2] (b) State two commercial advantages that result from the type of reproduction found in cultivated bananas. ANS;=; more certain, known quality/quantity of fruit or described*;maintain their adaptations to particular favourable conditions without changing;, greater % of fruit flesh;, faster, greater profit/higher yield, ;; [2] (C)Fungal infections kill plants through the following; sAns=; interferes with movement of gases/blocks stomata; interference with transpiration; digests cell contents using extra-cellular enzymes; separates cells; takes nutrients from the plant; kills cells by protective toxins released by the fugal cells; blocks veins/vascular bundles/phloem/xylem; less photosynthesis; Explain why cultivated bananas are more susceptible to fungal diseases. Ans;=plants close together; genetically identical; little variation/mutation; all/very large numbers lack resistance;[max 3] Quiz 9. Cystic fibrosis is a genetic condition in humans that results from a failure to inherit a particular dominant allele of a gene. (a) State where genes are found in a cell........................................... [1] (b) (i) Use a fully labelled genetic diagram to show how cystic fibrosis is inherited by the children of two heterozygous parents. Use the letter D to represent the dominant allele and d to represent the recessive allele. Ans=; (ii) State the expected ratio of phenotypes in the children
Quiz 10.What is meant by the terms and describe one example of each type. (i) Discontinuous variation. Ans=; Distinct from one another/no intermediates; Onlyfew forms; of the trait are often present The result of inherited ; of genes only; May involve only one or just a few genes; Usually stable and inherited; Examples; (such as eye colour, tall + dwarf peas, red hair, albinism, sex, blood group) you can sketch a relevant graph;
50 45 number of in individuals in % 40 35 30 25 20 15 10 5 0 A B AB trait e.g. Blood group O
(ii) Continuous variation. Ans= There are small differences in a trait from one to the next/ there is a wide range of a particular trait ; There are many forms of a particular trait; Extremes at either end may show considerable difference ; Its caused by many genes interacting with each other + the environment ; Usually unstable and not inherited; Examples; range of skin colours due gene interactions with different sun light intensities; By different people in different parts of the world height; body weight; different fruit/seed sizes of plants from same parents ;(all these may be due to difference in nutrient availability, light intensities in case of plants you can sketch a relevant graph;[max 10] no. of individuals mean
trait eg height
(b) State the causes of (i)sickle cell anaemia, Ans. Mutation of gene ; affecting haemoglobin (formation); [max 1] (ii) Downs syndrome. Ans. Mutation of chromosome/one extra chromosome; [max 1]
GENETIC ENGINEERING and biotechnology Note; genetic engineering;=artificial change in genetic make-up of a cell/organism by inserting a gene from another organism into its DNA of another organism; where it is then leads to synthesis of protein that it was helping to synthesis in donor cell. its direct manipulation of genes for practical purposes;
The recipient cell/organism=(transgenic/genetically engineered) if its an organism its also called Genetically Modified Organism ,GMO
Biotechnology is the use of living systems and organisms to develop or make useful products; OR
"any technological application that uses biological systems, living organisms or derivatives of these, to make or modify products for specific use" The recipient cell/organism=(transgenic/genetically engineered) if its an organism its also called Genetically Modified Organism ,GMO
Possible disadvantages of genetic engineering Altered genes may enter into wrong organisms where they may be harmful ; Like; herbicide resistant gene may enter into weed plant therefore herbicides will not kill them; Genetically engineered viruses that kill pests might transfer the altered genes to harmless Viruses living in organisms Alien species of organisms have been seen to negatively alter their new ecosystem balance and its feared this may be the case with GMOs Ethical rejection of practices like encouraging mutations that lead to cancers in animals in order to research on possible cure of the same cancers in human Some people just fear negative consequences of GMOs that could be there yet currently not known
Current solutions to these problems; Biologists ensure organisms currying altered genes cannot survive outside their target host organism Some GMOs are made with very short life span or with very low reproduction rate; Some are made sensitive to UV light and if they escape from their host sun light kill them Some current uses of biotechnology Genetic testing is now used for: Carrier screening, or the identification of unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to manifest; Conformational diagnosis of symptomatic individuals; Determining sex; Forensic/identity testing; Newborn screening; Prenatal diagnostic screening; Presymptomatic testing for estimating the risk of developing adult-onset cancers; Pre-symptomatic testing for predicting adult-onset disorders. Drug production; eg penicillin Gene therapy In agriculture in pest control, production of GMO food, production of single cell proteins
References; Comprehensive biology; modern biology; GCSE biology D. G. Mackean;biology by Brooker, Widmaier, , Graham &Stiling;biology dimensions of life; Moderns abc biology

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Cell Theory &amp; Genetics

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Soofia English Medium School INTRODUCTION TO THE CELL THEORY ANDGENETICS.ByMr.Joshwa. O. O.S Preface.

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Soofia English Medium School

Soofia English Medium School

Gene a Locus Hydrogen bond

Sister chromosomes Two DNA strands

Explaining what alleles are;

Locus of Blood group Gene 1A homologous chromosomes

locus of Blood group Gene 1B

locus for allele 1A for blood group A

locus for allele 1A for blood group A

locus for allele 1A for blood group A

locus for allele 1B for blood group B

Presumed heterozygotes ( the dot notation indicates sex-linked trait)

Mating; Mating between relatives;

A, O B, O A,B,AB,O (universal recipient) O

A, AB B, AB AB A,B,AB,O (universal donor)

Phenotype Black Black Brown

Parental genotypes Possible gametes

F1 Conclusion from test one;

A Punnet square If a mother is a carrier, XHXh-A; And the father is normal;

Injured tissue Releases

blood platelets (thrombocytes) brakes and releases

Prothrombin (formation is in liver; facilitated by; Vitamin K; its converted to;

Fibrin + trapped red blood cells = blood clot;

Parents Parental genotypes

white female CWCW

Soofia English Medium School Discontinuous variation;

Soofia English Medium School Mutations ;( may be chromosomal or gene(point) mutations)

aneuploidy hyperploidy trisomy ( 2n+1) tetrasomy ( 2n+2)

Soofia English Medium School

Soofia English Medium School

Soofia English Medium School

Soofia English Medium School

Further natural selection

species D has become species E

Soofia English Medium School

Soofia English Medium School

Soofia English Medium School

Parents father Parental Possible gametes

First generation (F1)

Soofia English Medium School [Total: 11]

Soofia English Medium School

50 45 number of in individuals in % 40 35 30 25 20 15 10 5 0 A B AB trait e.g. Blood group O

Soofia English Medium School

Soofia English Medium School

Soofia English Medium School

Soofia English Medium School

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