Pre-Medical : Biology. au PRINCIPLES OF INHERITANCE AND VARIATIONS INTRODUCTION Genetics term was given by W. Bateson. Collective study of heredity & Variations. fransmission of genetic characters from parent to offsprings. individuals of same species have some differences, these are called variation. Inheritance :- Process by which character are passed on from parent to progeny. G.J. Mendel - Father of Genetics W. Bateson - Father of Modein Genetics. Morgan -_ Father of Experimental genetics ‘Some importance Definition == 1. Factor/Gene :- Unit of heredity responsible for inheritance of character and appearance of character. 2. Alllele :- Alternative form of gene. 7 f" + ft { 3. Homozygous :- A zygote is formed by fusion of two gametes having identicle factors is called homozygote and ‘organism developed from this zygote is called homozygous. Ex. TT, RR, tt 4, Heterozygous :- A zygote is formed by fusion of two different types of gamete carrving different factors is called heterozygote (Tt, Re) and individual developed from such zygote is called heterozygous. 5. Phenotype :-Itis the external and morphological appearance of an organism for a particular character. 6. Genotype :- The genetic constitution or genetic make-up of an organism for a particular character. MENDELISM| Gregor Johann Mendel (1822 - 1884) - Worked on Pisum Sativum (garden pea 2n = 14) ‘Working year 1856-1863 (7 vears) Paper : Experiment in plant hybridization In 1900, Mendel's postulates were rediscovered by three scientists independently. ie. 1, Carl Correns - Germany Hugo deVries - Holland 3. Erich von Tschermak Seysenegg - Austria, Reason for Mendle’s Failure :- (Communication was not easy. i) His concept of genes (or factors, in Mende!'s words) was not accepted by his contemporaries (ii) Mendel’s approach of using mathematics to explain biological phenomena was totally new and unacceptable to many of the biologists of his time. (i) He could not provide any physical proof for the existence of factors. Reasons for Mendel's success : (Mendel studied the inheretance of one or two characters at a time. Gi) Selection of Material - Selection of garden Pea plant is suitable for studies which have the following advantages (a) Shortlife cycle of 2-3 months. (6) Ithasmany contrasting traits. (©) Natural self pollination and artificial cross pollination are present in pea plant. Gi) Mendel quantitatively analyse the inheritance of qualitative characters. (i) He maintained the statistical records of all the experiments, () His experiment had large sampling size. 42 ——_—__. (© scanned wt onENScnnerALLEN Pre-Medical : Biology 's work : Mendel studied 7 characters or 7 pairs of contrasting traits. Men Character Length of plant Flower position terminal Shape of pod constricted Colour of pod yellow Shape of seed | Colour of colyiedon Ist yellow’ Colour of flower ‘wrinkled Ist Parent * Wd Trrster of Pollen (SREB \ (Polination) 43 (© scanned wt onENScnnerPre-Medical : Biol MONOHYBRID CROSS When we consider the inheritance of one character at a time in a cross. Tall Plant Dwarf Plant } Parents ™7™ x tt J J o } cametes Sseurem Tt } F1 (Heterozygous Tall) Tt x Tt } F1 on Selfing m () m (o } Gametes Checker Board Cs (t Q a (o m T Tt Homozygous Tall | Heterozygous Tall ty Tt tt Heterozygous Tall | Homozygous Dwarf Monohybrid Cross Ratio Phenotypic ratio : 3 : 1 (3 Tall : 1 Dwarf) Genotypic ratio: 1:2: 4(1TT:2 Tt: 1t) Note :- Checker Board Method was used by Reginald. C. Punnett. Conclusions (results) of Monohybrid Cross F* Conclusion (Postulate of paired factors) : @ Characters are controlled by discrete units called factors @) Factors ocour in pairs. I Conclusion (Postulate of Dominance): Ina dissimilar par of factors one member of the pair dominates (dominant) the other (recessive). Tal >< Dwarf TT | tt F,Generation (7a) All tall Law of dominance = Postulate of paired factors + Postulate of Dominance There are two exceptions of law of dominance. [Al Incomplete dominance, [B| Co- ABO blood groups are determined by three alleles — 1°, I", and I° Possible phenotypes - A, B, AB, O (341) 3 Possible genotype number = "> = 6 genotype ——___. 47 (© scanned wt onENScnnerPre-Medical _: Biol Blood group ‘Genotype ‘Antigen or ‘Antibody or agghutinogen agglutinin a Fe AP A b B PP, PP B a B re A&B None ° FP. one a&b [4] Pleiotropie gene ;- Gene which controls more than one characteris called pleiotropic gene. This gene shows multiple phenotypic effec. For example Seed shape Size of @ _InPea plant : Single gene influences < Seed shape | starch grain Sie of starch grain BB | Round Large Bb | Round | Medium we [_weinket Smal (i) Sickle cell anaemia - (Autosomal recessive disorder/qualitative disorder) Possible genotype = 3 Hb‘Hb*= Normal Hb‘Hb® = Cantier/Normal HbSHb* = S.C.A /Diseases [lethal The defect is caused by the substitution of Glutamic acid (Giu) by Valine (Val) at the sixth position of the beta globin chain of the haemoglok results due to the single base substitution atthe sixth codon of the beta globin gene from GAG to GUG. The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the change in the shape of the RBC from biconcave disc to elongated sickle like structure. molecule. The substitution of amino acid in the globin protein ~-GTG— CAC 4 Sickle-cell Hb (Sjgene mRN/ a mRNA, ~oe- OGOOO® GDOOOOW® T Te 6 7 T2373 67 HbA peptide HBS peptide @) ) Micrograph of the red blood cells and the amino acid composition of the relevant portion of B-chain of haemoglobin : (@) From a normal individual; (b) From an individual with sickle-cell anaemia 48 ——_—__. (© scanned wt onENScnner™ Pre-Medical : Biol POLYGENIC INHERITANCE Inheritance of characters in which one characteris controlled by many genes and intensity of character depends upon the number of dominant allele. Besides the involvement of multiple genes polygenic inheritance also takes into account the influence of environment. In a polygenic trait the phenotype reflects the contribution of each allele, i¢., the effect of each allele is additive. Examples @ Human height (regulated by 5 gene pairs) i) Human skin colour (regulated by 3 gene paits) When a Negro Black (AABBCC) phenotype is crossed with white (aabbce) phenotype, intermediate phenotype produced in F, generation. CHROMOSOMAL THEORY OF INHERITANCE | This theory was proposed by Walter Sutton and Theodor Boveri (1902) Walter Sutton and Theodore Boveri noted that the behaviour of chromosomes was parallel to the behaviour of genes and used chromosome movement to explain Mende!’s lus. Possibility 1 Possitility One long orange and One long orange and short green chromosome short red chromosome and long yellow and ‘and long yellow and short red chromosome short green chromosome at the same pole at the same pole Meiosis - anaphase Meiosis ll - anaphase Germ cells Germ cells SY MINN Independent assortment of chromosomes (© scanned wt onENScnnerPre-Medical : Biol ‘A Comparison between the Behaviour of Chromosomes and Genes A(Gene) ‘Occur in. pairs ‘Segregate at the time of gamete formation such that only one of each pait is transmitted to a gamete Independent pairs segregate independently of each other B (Chromosome) ‘Occur in pairs Searegate at gamete formation and only one of each pair is transmitted to a gamete ‘One pair segregates independently of another pair ‘Thomas Hunt Morgan and his colleagues, led to discovering the basis for the variation that sexual reproduction produced. Morgan worked with the tiny fruit files, Drosophila melanogaster, which were found very suitable for such studies as =~ 1, They could be grown on simple synthetic medium in the laboratory. There was a clear differentiation of the sexes ~ 2. 3. 4 5. [HINKAGE] ey Morgan) They complete their life cycle in about two weeks, A single mating could produce a large number of progeny lies. the male and female flies are easily distinguisable. It has many types of hereditary variations that can be seen with low power microscopes. Linkage is the tendency of genes which are close together on a same chromosome to be inherited together. Linked genes do not assort independently Genes present on same chromosome are called Linked genes, Linked genes are nor-alleic. Crossing over breaks linkage. Linkage and independent assortment can be represented in dihybrid plant, as ~ In case of linkage in dihybrid AaB f t: It produces two types of gamete AB Linkage Group : ab In case of independent assortment in dinybrid AaBb A | | a It produces four types of gamete AB: ab: aB: Ab All the genes present on a chromosome collectively forms one linkage group. Number of Linkage group = haploid no. of homologous chromosomes. Types of Linkage :- There are two types of linkage ~ Complete Linkage Incomplete Linkage + Raretypeoflinkage = [+ Only parental combinations are found in gametes |« + NoRecombination le «Example: Male Drosophila Most common type of Linkage. Parental as wellas recombinant gametes are formed. Recombination frequency less than or equal to 50% 50 (© scanned wt onENScnnerALLEN Pre-Medical : Biology * Distance can be identified by the incomplete linkage. I's unit is centi Morgan. 1 x Strength of linkage «e —————1____., __}_ aoaeneeeens & Tstance b/w linked gene ~ Crossing Over + Genetic map/Linkage map/chromosome map - In genetic map different genes are linearly arranged according to % of crossing over (« Distance) between them. Morgan's student Alfred Sturtevant used the frequency of recombination between gene pairs on the same ‘chromosome as a measure of the distance between genes and ‘mapped’ their position on the chromosome, LINKAGE : RESULTS OF TWO DIHYBRID CROSSES CONDUCTED BY MORGAN Cross A shows crossing between gene y (body colour) and w (eye colour) Cross B shows crossing between genes w (eye colour) and m (wings size) Cross A Cross B 2. o g c — — i vw | ww ‘Yellow, white Mild type White, miniature Wild type 9 Vv ¢ 9 Vv ¢ F, generation 25 i —» eS ad = a ‘wenn | Ya type pee | Gametes Parental ¥ recombinant Parental 1 Recombinant type (98.7%) type (1.3%) type (62.8%) type (37.2%) F, generation Figure : Results of two difybrid crosses conducted by Morgan. Cross A shows crossing between gene yand w; (Cross B shows crossing between genes w and m. Here dominant wild type alletes are represented with (+) sign in superscript. Note : The strength of linkage between y and w is higher than w and m. ——__. 51 (© scanned wt onENScnnerPre-Medical : Biol ALLEN ‘SEX LINKAGE When the genes are present on sex:chromosome is termed as sex inked gene and such phenomenon is known as sexlinkage. ‘Types of sex linkage :- 1. Xdlinkage. Genes of somatic characters are found on x-chromosome. Example of X-inkage = Ii| Eye colour in Drosophila = Eye colour in Drosophila is controlled by a X-linked gene. [i] Haemophilia (bleeder's disease /roval's disease) - The gene of haemophilia is recessive and x-linked lethal gene. On the basis of «linked, following types of genotype are found XX = Canter female XIX! = Affected female XY = Alfected male. But, X"X* type of female dies during embryo stage because in homozygous condition, this gene becomes kthal and causes death. {iil Colour Blindness (X-linked recessive) ~ Due to defect in either red or green cone of eye resulting in faire to discriminate between red and green colour. liv] Diabetes insipidus (recessive). [vj Pesudoricketes (Dominant) 2. Y¥-linkage - The genes of somatic characters are located on Y- chromosome. The inheritance of such type of characteris only through the males. Such type of characteris called Holandkic character. These characters found only in male. Example :- (i) Gene which forms TDF /sry-gene (i) Hypertrichosis (excessive hair on ear pinna.) SEX DETERMINATION Establishment of sex through differential development in an individual at an early stage of life, is called sex determination. Mechanism of sex determination : I] Allosomic determination of sex ~ Method Female Male Examples XXXY | Homogamatic Heterogamatic | Human Drosophila ZWZZ | Heterogamatic | Homogamatic Birds, Repiiles XXXO | Homogamatie Heterogamanc | Grasshopper, Cockroach X- Chromosome discovered by "Henking” and called 'x-body). [| Haploid - diploid mechanism (Sex determination in Honey Bee) - Diploid (two sets) > Female [32-chromosomes} Haploid (One set) -» Male [16-chromosomes| In honey bee, male individual (Drone) develops from unfertilized eggs (Haploid). Male is always parthenogenote. Queen and worker bees develop from diploid eggs i.e. fertilized egg, [Ml] Cytological basis of sex Identification (Barr body technique) = Interphasic nucleus of human female contains two X- chromosomes. Out of two, one K- chromosome becomes heterochromatin and other X- chromosome is euchromatin. By staining X- heterochromatin, it appears as a dense body which is called Barr body. No. of Barr body = (No. of X chromosomes ~ 1) 52 ——___. (© scanned wt onENScnnerPre-Medical : Biol HUMAN GENETICS. ‘The study (analysis) of genetic characters and aspects like genetic improvernents among humans are included in human genetics. The study and analysis of human genetics is performed by many methods like pedigree analysis, statistical ‘analysis and human karyotyping, Pedigree Analysis Study of ancestoral history of man of transmission of genetic characters from one generation to next, is pedigree analysis s To study and analyse them a pedigree of genetic facts/data and following symbols are used. E Bo © He 2} affected individuals rected with deace E—© ming a © _ ming between relatives © parents with male child Mal ae Be nen femal children below sm é Lb (in order of birth-left lo right) sex unspecified [EE -© _ parents with male child (consanguineous mating) Examples :- 6 0 © ooo e {a) Autosomal dominant trait (Mytotonic Dystrophy) _(b) Autosomal recessive trait (Sickle Cell Anaemia) ‘Special Note :- Autosomal Disorder Autosomal Dominant Autosomal recessive AA = Affected ‘AA = Normal Aa= Affected ‘Aa = Normal aa = Normal aa = Affected Ex. Mytonic dystrophy Ex. Albinism Polydactuiy Phenwiketonuria Alkeptonuria Sickel cell Anaemia Thalassemia Cystic fibrosis ——__. 53 (© scanned wt onENScnner