Heredity and Variation INTRODUCTION You may have pondered over such questions as, why do hen’s egg always hatch into chicken and not sparrow ? Why do children in a family resemble one another but are not exactly alike ? Why do they only partly resemble their parents ? The answers to these and many more similar questions come from an important branch of biology, called Genetics, the study of heredity. It means there is a continuity of features from one generation to the next, Its information is present in the zygote. The term genetics was first coined by William Bateson in 1906. The word genetics is derived from the Greek term gen which means ‘to become’. According to Webster's dictionary, Genetics is the branch of Biology which deals with heredity and variation among related organisms. ‘There are two main components of this discipline. The first is heredity or the study of factors responsible for the resemblance between the parents and their offspring. Thus, heredity can be defined as the “Transmission of characters from parents to offsprings". The second, called variation is concerned with the forces or influences due to which no two organisms are exactly alike. Thus the occurrence of differences among the individuals of the same species is known as variation. In the earlier chapter, you have studied about sexual reproduction. Due to this capacity every organism reproduces new generation of offspring that resembles the parental generation. Thus heredity and variation within a progeny is the result of sexual reproduction. But, each species has its own individuality, e.g. each species is recognizable by certain specific characteristics. Thus, by the process of gradual and continuous change, living organisms have evolved to exhibit a wide diversity. Historical Background of Heredity ‘The concept of heredity is not new. Selective breeding of horses, donkeys and date palm was also done during the ancient civilization of Babylon and Assyria nearly 6000 years ago. Ancient Chinese writing mentions creating better varieties of paddy nearly 5000 years ago. Hippocrates (400 B.C) believed that characteristic are inherited from parents because reproductive material is handed over from all parts of the body of an individual. The science of heredity and variation, the scientific Principle of the science of genetics originated in 1900 with the re-discovery of a scientific article published in 1866 by Gregor Johann Mendel. Mendel’s ‘factors’, the carriers of heredity information, are known as ‘genes’, a term coined by Johansen in 1909.Gregor Mendel-The Father of Genetics ‘The contribution of Mendel to Genetics is called Mendelism. Mendel is called the father 0 \Genetics. Christien Johann Mendel was born in 1822. He came to the monastery at Brunn and was appointed as priest in 1848. In 1856, he began to collect and| observe the numerous varieties of the garden pea. These varieties differed in seed, pod, flower and @ number of other characteristics. He grew each variety together with generalisations atthe Natural History Society of Brunn in 1865, No one at that time read Mendel's research papers. They lay neglected until 1900 when they were discovered almost simultaneously and independently by (Gregor Jobana Mendel Karl currens, Hugo de varies and von Tschermark. He died in 1884, (1822-1884) ‘Mendel’s work was ized and appreciated, he was no more. Mendel’s Work Mendel did his work on garden pea (Pisum sativum L.). The following were the reasons for the success of Mendel : © Itis very easy to cultivate the pea plants in open ground. © The flowers of pea plants are normally self-fertlized. © The pea plant shows a number of contrasting characters. © The hybrid of garden pea are perfectly fertile. © Cross pollination is not very difficult in pea plant. © Antficial fertilization was almost successful. © He studied the inheritance of only one character at a time in most of the experiments. ‘© He maintained statistical records of his results. It helped Mendel to drive numerical ratios of significance. Mendel crossed two plants differing in two characters, such as flower position and height of the stem. The plants involved in the above crosses are called parent plants. It was marked by P. ‘The first Hybrid generation resulting from a cross between parental plants is called the first filial generation and is marked as F,, The second generation of hybrids arising from the self or cross- fertilization of F, hybrid generation is called the second filial generation and is marked as F,, Monohybrid Cross Experiments (Single Gene Inheritance) ‘The experiments considering the inheritance of any one character are called monohybridization experiment, Mendel selected two pea plants, one with a tall stem and the other with a dwarf or short stem. These plants were considered as parental plants (P) and were pure breeding. This was done by first removing the anther of an immature flower of tall plants. This flower was than covered with a small plastic bag when this flower matured, the pistil was dusted with pollen received from the dwarf plant. Seeds were collected from this plant. These seeds were sown and a group of plants were raised. These plants represent F, generation,‘In Mendel’s above referred experiment, all plants in F, generation were tall. They were as tall as their parents in P generation. The F, plants were inbreed. The seeds were collected and the next generation F, was raised, In the F, generation two type of plants were found. They were tall and dwarf. Mendel counted the number of tall and dwarf plants of the 1064 plants of F, generation, 787 plants were tall and 277 plants were dwarf, This ratio is approximately (3 : 1). Mendel carried out similar experiments, involving seven different characters. Each time he obtained similar results, () Parental x Tal Dwarf 28 Tal ie —$$be 1 Diagrammatic Representation of Monohybrid Experiment Character Dominant Trait Recessive Trait seed she 6 lU @ Round 2 Flower a od Yew we “Terminal Flower Colour Violet Pod Shape oa Fall Constricted | Siem Height Pod Colour oa. Green ‘Yellow Tall Dwaf Seven Pairs of Contrasting Traits in Pea Plant Studied by MendelContrasting Traits Studied by Mendel in Pea Each character that Mendel followed had two alternative appearance or ‘Traits’, i.e., tall or short stems, round or wrinkled seed, etc. Mendel’s differentating characters have been variously called ‘factors’ or ‘genes’. Bateson proposed the name ‘Alleomorph’ or ‘Allele’ for them. Based on his observations on monohybrid crosses, Mendel proposed two general rules to consolidate his understanding of inheritance in monohybrid crosses. Today these rules are called the Principles or Laws of inheritance. The First Law or Law of Dominance and the Second Law or Law of Segregation. Laws of Dominance ‘When two different alleles for a character occur in an organism, only one of the two alleles expresses itself. The other allele remains unexpressed. The allele which is expressed is called dominant gene and the allele which is not expressed is called recessive gene. Let us now examine results obtained from self-fertilization amongst F, individuals. All F, plants are tall and have Tt genotype. As a male parent, they will produce two types of gamets (T and t gametes), as a female parent also they will produce two types of gamets ( T and t) ~ two types of gamets can fertilize two types of gametes in four possible ways (TT, Tt, Tt, t). OF these, three kinds will be tall (TT, Tt, TO and one kind will be dwarf (tt). Thus in F, generation 3/4 of the total offsprings obtained exhibit dominant expression and 1/4 of them exhibit recessive expression. Thus, the ratio of 3:1 is obtained, Based as such results, Mendel derived the law. Law of Segregation When a pair of contrasting traits are brought together in a hybrid, the two factors (alleles) remain together without mixing. When the gametes are formed from each other, only one enters each gamete, Thus any gamete contains only one gene for an expression of a character, this is also called Law of Purity of gametes. An organism can be homozygous or heterozygous for a character, but its gametes will always be pure for a particular expression of that character. Test Cross ‘A cross, arranged for deciding whether an organism is homozygous or heterozygous is called test cross. Selected cross breed of pea may be homozygous tall or heterozygous tall. If we cross a tall plant with a dwarf plant, two outcomes are possible. This will depend on the genotype of tall plant. If homozygous tall (TT) is cross with dwarf plant (tt) all offspring will be tall. If it is heterozygous tall (Tt) 50 % will be tall and 50 % will be dwarf, Thus, through such a cross, genotype of the plant can be determined. Hence, it is called test cross. The ratio obtained is 1: 1.Inheritance of Two Genes (Dihybrid Experiment) The crossing of two plants differing in two characters is called dihybrid experiment. Mendel arranged experiments to follow simultaneous inheritance of two characters in pea plants e.g. shape of seed and colour of seed. Mendel selected pure-breeding yellow, round seed producing plant and another pure breeding green, wrinkled seed producing plant. These two plants were treated as parents and were crossed. Here, the gene for round shape of seeds ‘R’ is dominant over the gene for wrinkled shape of seed (r). Gene for yellow colour of seed “Y” is dominant over the gene for green colour seed (y). In his experiment, the F, generation plants produced only yellow round seed. Details of Mendel’s experiments are expressed with chart as under : Results in F, offsprings are as follow. Round Wrinkled Round Wrinked Yellow Yellow Green Green seeded seeded seeded seeded plant plant plant plant 9 3 3 1 16 16 » Hie): Me Ganee ®§ @ Oo asa y 1 - Mie: mie oN w® we Gomes oy Bios | OI, ot Oly v5 |y @ls BlSB 3 @e\ee a3 3 @/e\e R= Smooth Seedy r=Rough Seedy = Green Colout = Male =Female Dihybrid Experiment ~ Seed Colour and ShapeLaw of Independent Assortment ‘The segregation of genes controlling one character is independent of the segregation of genes controlling another character. This law is based on dihybrid experiment. During gamete formation of a dihybrid cross, the factors (genes) for yellow colour assort out independently of the factors for round shape. The gene Y may combine with the dominant gene R or the recessive gene r of the other character and enter a gamete. In the same way the gene y may combine with the dominant gene R or the recessive gene r and enter a gamete. So the F, dihybrid plants produce four types of gametes and they are YR, Yr, yR and yr. In this dihybrid cross (see figure), the phenotypes round-yellow; wrinkled-yellow, round-green and wrinkled-green appeared in the ratio 9: 3 : 3 : 1. Such a ratio was observed for several pairs of characters that Mendel studied. ‘This law also has only limited expression. It is true only in those cases where the two pairs of genes, controlling two different characters are located on two different pairs of homologous chromosomes. Genes on the same pair of chromosomes are not independently assorted. Evaluation of Mendel's Work All conclusions and deductions by Mendel have not been found true in all cases. © His belief that of two alleles of a gene, one is dominant and the other is recessive is not true in all cases, © Many exceptions are found where both genes express their effects jointly. © It is also not true that there are only two alleles of a gene. © Its also not true that one character is controlled by one pair of genes. One such example is incomplete dominance. Incomplete Dominance (1 : 2 : 1) Incomplete dominance can be studied though experiments on Mirabilis jalapa plant. Three colours occur in the flowers of this plant: red, white and pink, ‘When homozygus red flowered and homozygous white flowered plants are crossed, all offsprings in F, generation are pink flowered. When these F, generation are self-fertilized in Fy generation, three kinds of plants are obtained. 25% plants are red flowered, 25% are white flowered and 50% are pink flowered plants. If we represent gene for red colour by 'R' and gene for white colour by experimental results can be displayed as under : Homozygous red flowered plants have both genes of ‘R’ type. Their genotype is RR. All gametes which they produce will contain gene ‘R’. Homozygous white flowered plants have both genes of “W’ type. Their genotype is WW. All gametes produced by them will contain gene ‘W’. F, plants formed through their cross will contain one ‘R’ gene and one ‘W’ gene. Their genotype is RW. All plants will produce pink coloured flowers. If R gene were dominant over ‘W’ gene, the plants should have been red flowered. If 'W' gene were dominant over 'R’ gene, the plants should have been white flowered. However, all plants are obtained pink flowered. This indicates that a mixed effect of both genes is observed. No allele is dominant over the other. the details ofF, plants produced by self cross of F, plants yields 1 Red flowered : 2 Pink flowered : 1 White flowered ratio. It means RR produces red colour flowers, WW produces white flowers and RW produces pink flowers. This example is called Incomplete dominance. Similar examples occur in the animal world also. Incomplete dominance (1 : 2: 1) RR ww Ratio RW Pink ap wie SB Incomplete Dominance Mirabilis Experiment Co-dominance In co-dominance, both dominant and recessive alleles lack their dominant and recessive relationships and both the genes expresses their expression independently. In these cases the dominant character is not mixed with the recessive character. In short horn cattle, there are two pure varieties, both red and white for coat colour. A cross between the two varieties (Red RR X White rr) leads to the formation of a new variety (Rr) with reddish grey colour coat. Such contains both red hair and white hair,Red (RR) X White (rr) Reddish Gray Rr Reddish Gray Rr X Reddish Gray Rr Red RR Reddish Gray Rr White rr Inheritance of Coat Colour in Cattle (Case of Codominance) Polygenic Inheritance ‘Two or more independent pairs of factors or genes which affect the same characteristic but in an additive manner are known as multiple genes or cumulative genes. These affect the degree of development of a character quantitatively. Here the effect is dependent upon the number of doses of genes present in the individual, ‘According to Dervenport, skin colour in man is determined by multiple genes. Human skin colour is generally controlled by three separate genes. Each gene contributes to a unit of darkness due to incomplete dominance, These three genes can be designated as A, B and C, and thus the skin shade has to vary from a very dark in a AABBCC individual to very light in aabbce individual. Multiple Alleles ‘As per Mendel, every character is controlled by one pair of alleles. There are only two optional forms, one of which is dominant and the other one is recessive. Cases are observed where there are more than two optional forms of a gene for one character. Thus when three or more alleles are responsible for a single characteristic, they are known as multiple alleles. All these alleles occupy the same specific locus on the chromosomes. In a diploid cell, only two alleles can be present at a time on the homologous chromosomes. A well known example is the ABO blood type in humans. Here the inheritance is based on three alleles ie. 14, 18, i, 1 and 1° are dominant and i is recessive. ‘The gene for producing antigen is I and its allele for non producing antigen is i. 14 is responsible for producing antigen- A. Gene I° is responsible for producing antigen B. These two alleles are codominant which means that both can express themselves in presence of each other. Thus three alternatives are possible. Various persons in different blood groups can have following probable genotypes.If blood group of parents are known, probable blood groups in their children can be known, Conversely, if blood group of a child is known, the blood groups of its parents can be known. Landsteiner described human blood groups. Four blood groups occur. These are A, B, AB and ©. Two aspects are to be considered in deciding these blood groups-which kind of antigen occurs on RBC, and which kind of antibody occurs in blood plasma in a person. Person belonging to A blood group has A antigen on RBCs and b antibody in blood plasma where as person belonging to B blood group has B antigen on RBCs and a antibody in blood plasma. Person belonging to AB blood group has A antigen and B antigen in other RBCs where as blood plasma does not have @ or b antibodies. Person belonging to O blood group does not have any antigen in RBCs. Its blood plasma contains “a” as well as "b" antibodies. An antigen is indicated by a capital letter and the antibody effective against it is indicated by the same letter in small script. Antibody reacts against the antigen and causes agglutination of RBCs which possess that antigen. ‘Thus clotting takes place. Reactions between antibody and antigens are shown in a chart Because of this fact, compatibility of blood groups is checked for blood transfusion. Serum test is carried out to determine the blood group of a person. ae Blood Grou 6606 ‘| |@|6|6|@ "|+16|6|6|6 “1516 |@ |@|@ Human Blood Groups - Serum Test Following table shows which person can accept blood from whom and can donate blood to whom, A A b A, AB A,O B B a B, AB B,O AB AB : AB A,B, O, AB (Universal recipient) A,B, AB, O ° - ab ‘ ° (Universal donor)‘The following table indicates the effects that would be produced during transfusing blood between antigen and antibody of different types of donor and recipient. A - : Fs + = 7 + + + 7 + ° = = 7 - + agglutination takes place, — agglutination does not takes place A AB AB. 8 Simple Explanation ‘Table : Exclusion of Paternity based on ABO Blood Groups Father must ‘Father Can Not be be of Blood Group of Blood Group | A ° ‘Aor AB OorB A A A, B, AB or O = A B Aor AB OorB B B A, B, AB or O - B ° B or AB OorA B A B or AB OorA AB A B or AB OorA AB B A or AB OorB AB AB A,B or AB ° ° ° 0, A, or B AB ° A 0, AorB AB ° B 0, A, or B ABPleiotropism (Expression of Many Characters through One Gene) It is the effect of a single gene upon two or more characters which are not related. Let us see some of their examples. In Drosophila, the recessive gene for vestigial wings produces vestigial wings in homozygous condition. In addition to wing length it is also responsible for the production of (1) The tiny wing like balancer behind the wing, (2) Certain bristles, (3) The structure of the spermatheca and (4) Low number of eggs. This phenomenon of multiple effect of a single gene is called pleiotropism. Genes which have multiple effects are called pleiotropic genes. The ability of a gene to have many effects is known as pleotropy. Its important example is sickle cell anemia. Chromosomal Basis of Inheritance Mendel published his work on inheritance of characters in 1866 but for following reasons, it remained unrecognized till 1900. ® Communication was not easy. ‘© His thoughts on factors that controlled the expression of traits were not accepted by his contemporaries. ‘© Mende!’s approach of using statistical analysis to explain biological phenomena was totally new in those days. '* He could not provide any physical proof for the existence of the factors. The location of these factors (now genes) in the cell was unknown to him. ‘© In those days neither the role of nucleus in reproduction nor the existence of chromo- somes in the nucleus was known. In 1900, de Varies, Correns and Van Tschermak independently rediscovered Mende!'s results on the inheritance of characters. Thus, Mendel’s work was rediscovered. Also, by this time, due to advancements of microscopy that were taking place, scientists were able to carefully observe meiotic cell division. ‘Mendel’s fact were first pointed out in 1902 by Sutton and Boveri; they put forward the theory that chromosomes form the physical basis of factors or genes which determine the heredity of living organisms. This is known as the "chromosome theory of heredity". Tt was also established that chromosomes were separated during formation of gamets. So haploid gametes are formed through meiosis. When ovum (7) fuses with a sperm (n) during fertilization, the diploid status is reestablished in the zygote (2n). Sutton demonstrated similarities in the behaviour of chromosomes located with the nucleus and the behaviors of Mendel's hypothetical ‘factors’. For example, genes (= factors) occur in pairs. Chromosomes also occur in pairs. Each gamete possesses any one gene from a pair Each gamete possesses any one chromosome from a pair of homologous chromosomes. Mendel's Law of independent assortment can also be explained on chromosomal basis, Organisms of each species have a fixed number of chromosomes. But Mendel's hypothetical units are not chromosomes. They are genes. Genes are located on chromosomes in various numbers of each chromosome. Chromosomes as well as genes occur in pairs. The two alleles of a gene pair are located at homologous sites on homologous chromosomes. Sutton united the knowledge of chromosomal segregation with Mendelian principles and called it the chromosomal theory of inheritance. It was also verified by Thomas Hunt Morgan. He worked on fruit fly, Drosophila melanogaster. He suggested that genes are arranged in a linear fashion on chromosomes. All such aspects establish that there is a chromosomal basis for laws of inheritance proposed by Mendel.Linkage and Recombination Early in his work, Mendel discovered the principle of independent assortment. For most of the characters for which he made crosses in garden pea plant, he found that the factors freely assorted as test crosses always showed 1: 1; 1: I ratio. For example : Parents AABB x aabb Aa Bb ‘Test cross consist of back cross of F, with recessive parent. a 1 s+ abo: e Fy Zz AaBb : a a Ratio 1 : 1 : 1 1 ‘Test Cross However in 1903, Sutton and later -H. Morgan in 1911 found that genes do not assort freely as envisaged by Mendel. Bateson and Punnet in their study in the same pea plant found that when they crossed red flowers and spherical pollen plant with a plant having purple flowers and cylindrical pollen, the test cross yielded a ratio of 7: 1: 1: 7 instead of the expected 1:1: 1: 1 ratio. ‘Thus, we have noted that Mendel’s law of independent assortment is not true in all cases. If the two pairs of genes controlling two different characters are located in the same pair of homologous chromosomes, they cannot be segregated separately. Such genes are called Linked genes and their inheritance is called Linkage. (1) Linkage in Sweet Pea Plant : Experiments indicative of Linkage were first performed by Bateson and Punnet on sweet pea plants (Lathyrus Odoratus; L). In those plants, purple flower colour is dominant over red flower colour. The respective genes are P and p. Long shape of pollen grains is dominant over round shape of pollen. The respective genes are L and J. They used the same method as Mendel followed. In F, generation, all plants had purple flowers and long pollen. This result was as per expectation. But the expected F, result, if assortment of these characters was independent, was as under : Purple flower Purple flower Red flower Red flower ‘Long pollen round pollen ‘Long pollen round pollen 9 : 3 5 3 5 1 However, the actual results obtained indicated the ratio as under: Mer bord: 3Linkage and Recombination as per Morgan Morgan carried out several dihybrid cross experiments in Drosophila to ‘study genes that were sex-linked. The crosses were similar to the hybrid ‘crosses carried out by Mendel in peas. For example Morgan hybridised Yellow- ‘bodied, White-eyed females to brown bodied, red-eyed males and intercrossed to get their F, progeny. He observed that the two genes did not segregate independently of each other and the F, ratio deviated very significantly from T. . Morgan ithe 9: 3:3: 1 ratio. eee Logical explanation of linkage and recombination was given by Morgan through his experiments, @ Linkage in Drosophila : Drosophila can be easily grown in laboratory. Its lifespan is also of about fifteen days. It produces a large number of offsprings, more over, male and female flies are separate, Thus, chances of self-fertilization are not there. Morgan had collected data regarding various characters through monohybrid experiments. Body colour grey is dominant over black body colour. Long wing is dominant over vestigial (under developed) wings. G represents gene for grey body colour. Its allele g is recessive for black colour. Similarly, gene L is for long wings and its allele for vestigial wings is recessive. ‘He took flies with grey body colour and long wings as one parent and flies with black body colour and vestigial wings as another parent. Male nom All F, generation flies were grey and long winged. This was expected J result, Now, Morgan test - crossed F; flies with a parent which is recessive ay y, for both the characters (Figure A). Of the flies he had obtained, 50% were grey and long winged and 50% were black and vestigial winged. ‘Chromosomes No flies were obtained with new combinations of characters. Such results Male and Female Fruit Fly represent complete Tinkage. This is because no crossing over occurs in Drosophila and their male drosophila. Chromosomes 50% 85% 85% 41% Drosophila-Complete Linkage Drosophila-Linkage and Crossing OverJIn the second experiment like the one above, when he used F; female's flies to cross with double recessive male flies, he obtained the following result Parental combinations : 83 percent Grey long winged = 41.5 percent Black vestigial winged = 41.5 percent Recombinations : 17 percent Grey vestigial = 8.5 percent Black Jong winged = 8.5 percent ‘Morgan explained that this unusual ratio is because of the presence of the genes for black and ‘vestigial on the same chromosomes. Here the genes are linked together. The two pairs of gene Gg. ‘and LI are not assorted independently. Morgan explained crossing over as given in the following diagram. Meiosis. i) Crossing Over and its Results Morgan attributed this due to the physical association or linkage of the two genes and coined the term linkage to describe this physical association of genes on a chromosome. The term recombination is used to describe the generation of non parental gene combination. The following figure is given only to understand the detailed process. Sex Determination One of the most prominent and interesting aspects of hereditary differences observable among individuals of the same species is sex. No satisfactory explanation of the hereditary basis for the sex difference was given before the rediscovery of Mendel’s laws. After this discovery, and after the establishment of the chromosome theory of heredity, it was found that in most animals, sex just like any other character, had its physical basis in the chromosomes. Sex is a character and it consists of two alternatives, namely maleness and femaleness. The organisms producing eggs are known as females and those producing sperms are known as males. ‘Sex behaves as a Mendelian character and it follows Mende!'s laws of inheritance. The morphological, cytological, genetical, physiological and environmental factors determine the sex. Based on this, sex determination is explained by different aspects in different cases worked out by different scientists.Chromosomal Theory of Sex Deter: tion In the nineteenth century, Henking observed that in insects, two kinds of sperms are produced. ‘The difference was in the presence or absence of one chromosome. He had described this chromosome as X-body. He was unable to identify it as a chromosome. Later, Mc Lung identified X-body as @ chromosome. Me Lung also noted that in insects like grasshopper, male has an odd number of chromosomes and female has an even number of chromosomes. ‘The chromosomal theory of sex determination was proposed by Miss. Stevens (1905) and Bridges (1922), e @ and Gold Schmidt (1938) supported this theory. According oie eect Ir {| ‘They are the autosomes and allosomes (sex chromosomes). RY ub ‘The autosomes contain genes which determine the somatic characters of the organism. The sex chromosomes determine the sex of an organism. There are two types of @ sex chromosomes. They are X chromosomes and Y chromosomes. These two chromosomes differ not only in 9 appearance but also in genetic composition. The X | chromosome is larger than Y. X is straight while Y has a B r bend at one end. xx In a normal animal, there are two sex chromosomes. ‘The two sex chromosomes may be XX or XY. In man, insects etc, the female has two X chromosomes. But in birds the male has two ZZ chromosomes and the female has one Z chromosome and one W chromosome. 22 ‘The chromosomal theory is sub-divided into the © following types for understanding. Determination of Sex by Chromosomal (1) Theory of heterogamesis Differences (2) Genetic balance theory 3) Haploid and Diploid mechanism (4) Environmental effect on determination of sex (5) Hormonal influences. Theory of Heterogamesis This theory was proposed by Correns in 1906. According to this theory, one sex produces two types of gamete and each type of gamete determines a different sex on fertilization. It can be (1) XX ~ XY type or (2) XX ~ XO type. XX - XY Type ‘There are two different patterns of sex determination. (a) Through XX-female, XY-male type or (b) Through XY-female, XX-male type. (a) XX-Female, XY-Male Type Sex Determination : It was studied in Drosophila and Man.(i) Sex Determination in Drosophila Morgan had discovered sex chromosomes in Drosophila; Morgan studied chromosomal constitution in male and female. Drosophila has four pairs of chromosomes, out of it there are three pairs of autosomes (3A) and one pair of sex chromosome, % 3AA + XY. The female produces only one type of ova = Male which carry 3A + X. But the male produces two types of —e sperms and they are 3A + X and 3A + Y type of Parents | % ‘ chromosomes. Sex is determined by the type of sperm, Genotypes g £ fertilizing an egg. If an egg is fertilized by X type sperm, oe GP the resulting individual is a female and if by Y type sperm, F, Generation °K |X ¢ resulting individual is male. This method of sex determination is also called XY ‘male method. Similar pattern of sex determination is Gametes observed in many animals and plants. In humans also, the Sex Determination in Drosophila same method is observed with some variations. (i) Sex Determination in Human Male In humans, 23 pairs of chromosomes occure. Of these, Parents @ x y twenty-two pairs are of autosomes. They are similar in man and | mn ma wean ani irconserwecms AO GD sex chromosomes. In man, one chromosome in twenty third pair é e is X-chromosome, and its homologous chromosome is smaller in Xx Genotype size and is called Y-chromosome. we @ All eggs of woman are similar. Each egg contains 22 autosomes and one X-sex chromosome, In man sperms are of ‘two types. Half the number of sperms have 22 autosomes and ‘and one Y-sex chromosome. Whether the child will be a boy or XX_ XX é ‘X-sex chromosome, while the other half contains 22 autosomes Git “Gia Boy a girl depends on the kind of sperm that fertilizes the egg. (b) XY-Female, XX-Male ‘Type : In this type of sex determination, the female is sexually heterozygous having X and Y chromosomes. The male is sexually homozygous having two X chromosomes. Males produce only one type of sperms while the females produce two types of eggs. In birds, the X and Y chromosomes are designated as Z and W chromosomes. So the chromosomal structure of the female is AA + ZW and the male is AA + ZZ. XY-XO Type This type of sex determination was first studied in squash bug (Protenor). Here the sex of the animal is determined by the number of X chromosomes present in the cell. In female, XY chromosomes ‘are present and in the male only one X chromosomes is present e.g. bugs and grasshopper. The ‘Sex Determination in Human process is given in a figure :Male x Female Parents : AA + XO AA + XY Gametes : Ry: Female Male XY-XO Type of Sex Determination Female XO and Male XX In some insects like Fumia of order Lepidoptera, the female has one X chromosome and the male has two X chromosomes. Sex determination pattern is as in other insects. Genetic Balance Theory ‘This theory was formulated by Bridges (a student of Morgan). According to this theory, sex is determined by the relative number of X chromosomes and autosomes. It is actually the ratio between the X chromosomes and autosomes that determines the sex. Drosophila flies having XO-chromosome were male. However, they were sterile, They had only one X - sex chromosome, it means, Y - sex chromosome is not essential for maleness. Bridges during his experiments found triploid female flies. These were fertile, they had three sets of autosomes and three X-sex chromosomes.He arranged cross breeding amongst such triploid female flies and normal diploid male flies. The probabilities are indicated in the table given below : Female (AAA + XXX) super male sterile x AAA ale = 5 =033Bridges noted that the offsprings contained normal males, normal females, sterile males, sterile females and sterile intersex flies. It seems that the ratio of X- sex chromosomes to autosomal chromosomes (X/A) is responsible for these results. Bridges suggested on the basis of results that in Drosophila, the genes for maleness are distributed over autosomes and those for femaleness are located on X-sex chromosomes. Sex depends on their balance. Haploidy and Diploidy Mechanism Development of an ovum into a young one without fertilization is known as parthenogenesis. ‘An individual produced parthenogenetically is called parthenote. In some hymenopterans like honey bees, wasps and ants, the females are diploid and the males are haploid. The female lays the normal egg which carries the haploid sets of chromosomes. The unfertilized haploid eggs develop parthenagenetically into functional males or drones. These drones carry only half the number (16) of chromosomes than that of of the female (32). If the eggs are fertilized; the zygote develops into a diploid female. In these, two types of females are produced from the fertilized eggs and they are (1) fertile normal diploid Queen and (2) sterile non functional diploid female workers. The diploid larva which gets the Royal jelly as the food material develops into Queen and the others develop into workers. Parents : Female x Male a Meiosis Mitosis Gametes : (6) (6) tes gy . Sex Determination in Honey Bee Gynandromorphs Gynandromorphs are individuals who show male characters on some part of the body and female characters on other parts of the body. They are sterile. It happens in rare cases. They occur in Drosophila, butterflies, beetles, wasps, bees, silk worms ete. It happens due to loss of X-chromosomes or due to binuleated eggs. The loss of an X-chromosome during mitosis in a 2A + XX cell leads to the derivation of two daughter cells one having 2A + XX and the other having 2A + X.Barr-body Test The mammalian cells of certain sexes contain a darkly stained body in the nucleus. It is called sex chromatin or Barr body. It was discovered by Barr and Bertram in 1949. It helps to identify the sex of the animal. The number of Barr bodies is always one less than the number of X chromosomes. Environmental Effect on Determination of Sex Cases have been noted, where sex determination is influenced by environmental conditions. Baltzar (1935) stated that in Bonellia, sex is determined by environmental factor. In Bonellia (marine animal) all zygotes are genetically identical- whether the embryo will develop into a male or a female depends \ Proboscis con where it develops. If it enters the body of the female and develops into a male animal. If it develops away from female, it develops into a female animal. Bonellia exhibits sexual Male’ vee dimorphism. It is believed that the proboscis secret a hormone Animal like substance which prevents the development of femaleness. Sex Determ! In tortoise, if the water temperature where it lives is higher than 30° zygote develops as a female, at a lower temperature, male development occurs. In crocodile, the reverse is observed. A higher temperature induces male development and a lower temperature induces female development. Hormonal Theory of Sex Determination Generally, in higher animals secondary sexual characters are under the influence of their related sex hormones. But Lillie found that when twins of opposite sex (One female and other male) are born, the male is normal but the female is sterile with many male characteristics. Such sterile females are called free martin. In cattle, twins occur frequently. During development both the twins are connected by a common umbilical cord. The gonads of the male develop earlier than those of the female, at that time, the male hormones reach the female embryo and influence the development of male sex in the female embryo, Sex Determination in Plants ‘The mechanism of sex determination has been studied in a large number of plants. In most of the plants the sex is controlled by the Y-chromosomes as in the case of man. If Y chromosomes are absent, the plant will be female.In plants chromosomes were first studied by Allen in Liver Worts. In Liver Worts, the sex organs are located on a haploid gametophyte. In sphaerocarpes, the male gametophyte has seven autosomes and one Y chromosomes (7 A + Y), the female has (7 A + X). In Angiosperm, female is homogametic and male heterogametic type. Parents : ‘Male x Female In Flagellaria plant, female is heterogametic and male homogametic. But in Dioscoria sinulate, female is homogametic (AA + XX) and male is heterogametic (AA +XO), where as in Humulus japanic, the female has two X chromosomes, but the male has one X chromosome and two Y chromosomes. Sexual Differentiation in Monoecious Plants Maize is monoecious, having both staminate flowers and pistilate flowers on the same plant. ‘The female flowers normally develop along the sides of the stalk, and the male flower at the top of the plant. But in some cases the grains of com may actually be produced at the tip of the plant. Why is it so ? There is a mutant gene called ta. In homozygous condition (ta ta) it converts the male flowers into female flowers. There is another mutant gene (bs); it suppresses the development of the female flowers. In Spinach sex is controlled by a single gene m which is located in the X-chromosome. Genetic Variation It isnot always that offspring only resemble parents, but they also vary from them. Of course the resemblances are due to the genes they inherit. However, not all the inherited genes express themselves i.e. exhibit their phenotype. Some may be hidden or may be recessive in the presence of dominant counter-parts during expression. Genetic variation in sexually reproducing species develops primarily because parental genes are shuffled into new combinations i.e. new genotypes, in the offspring. Here, the process responsible for creating variations is called "recombination". Let us consider some other processes responsible for creating variations. Variations can arise due to any change in the number of chromosomes, any structural changes in individual chromosomes and due to a change in the constitution of genes. All such changes are considered mutations. Mutations are the basis of discontinuous variation in population. ‘Mutation ‘The term "Mutation" was first utilized by De Vries. Mutation can be defined in various ways. Mutation is a phenomenon which results in alteration of DNA sequences and consequently results in changes in the genotype and the phenotype of an organism. Mutation is a sudden change of a gene or chromosome from one form to another. It produces an alteration in the character under its control. Dobzhansky stated that mutation is a mistake or misprint in cell division.‘Types of Mutations Mutations can be classified into various types. Its summary is given in the following table. Occurring in the somatic cells. It is not inherited. Occurring in the germ cells. It is inherited. ‘Mutation produces a dominant gene. ‘Mutation produces recessive gene, it does not express This is the reversal of mutation. Rarely does it happen. It occurs in the absence of any obvious cause. Most of) the mutations occurring in nature are of this type. ‘Mutations caused by external factors. The factors are called mutagens. e.g. ionizing radiations, mustard gas, peroxides, colchicine, formaldehyde, dimethyl sulphate, nitrous acid, etc. ‘Mutation causing changes in the metabolites or their end products. Mostly it happens in enzymes. These are ‘metabolic errors. Mainly there are three types of mutation: (1) Numerical mutations in chromosomes (2) Structural mutations in chromosomes. (3) Gene ‘mutations. Numerical mutations in chromosomes. (= Ploidy) We know that the number of chromosomes is fixed for every species. Change in the number of chromosomes can be either in the number of sets of chromosomes or in the number of chromosomes, in one set. These changes cause loss of one chromosome from one set or an addition of chromosomes. Chromosomal abberration are broadly classified into two, namely euploidy and aneuploidy. (1) Euploidy : Buploidy refers to the change in the number of chromosomes sets. It is further classified into two, namely 1. Haploidy and 2. Polyploidy. (i) Haploidy or Monoploidy ; Sometimes a set of chromosomes is lost and leads to haploidy. ii) Polyploidy + If there is an increase in the number of chromosomes which is in a multiple of the basic number m, the change is called polyploidy. The number can be 3n, 4n, Sn, etc. Many of our cultivated crops are developed in this way. In plants, generally the polyploidy produces larger leaves and flowers and heavier fruits and seeds. AneuploidyAncuploidy refers to the loss or gain of one or more chromosomes in a set. Normally, there are two members in a homologous pair of chromosomes. Instead, there may be only one or nil member or three or four members. Monosomy (20 ~ 1) : If there is only one member instead of two in a pair, the condition is called monosomy. Nullisomy (2n — 2) : If a homologous pair of chromosomes is totally missing, the condition is called nullisomy (2n ~ 2). Normally, it is lethal. ‘Trisomy (2 + 1) : If there are three members instead of two in a given pair of chromosomes, the condition is called trisomy. ‘Tetrasomy (2 + 2) : If there are four members in a pair of chromosomes instead of two, the condition is called tetrasomy. Depending on the kind of chromosomes involved, aneuploidy can be of two kinds. Autosomal aneuploidy: It involves autosomal pairs of chromosomes. Sex chromosomal aneuploidy: It involves sex chromosomes. Structural Abnormalities in Chromosomes Chromosomal Abberrations : Bach species is characterized by the presence of a specific number of chromosomes and each chromosome is arranged at definite location and in a definite sequence. Sometimes, changes occur in the number and arrangement of genes and in the number of chromosomes. These changes are called chromosomal aberrations or chromosomal mutation. Four kinds of chromosomal aberrations can occur. These are deletion, duplication, inversion and translocation. Deletion + Deletion is the loss of one or more genes from a chromosome and it is due to the loss of a chromosome segment. During deletion some genes are lost, so the organism shows some defects. Such a loss can be from the end region or from the inner region of a chromosome, ie. deletion may be ‘terminal’ or ‘intercalary’. In human, a disease called cri-du-chat results due to deletion from the short arm of chromosome ‘number five. Similarly a deletion from the long arm of chromosome number twenty two is responsible for the disease Philadelphia syndrome. Duplication : In such an abnormality, a part of a chromosome occurs twice. This can occur during replication of DNA. In such cases, the sequence of genes is either maintained or inverted. For example, say the sequence of gene is A B C D E F G and genes C D E are duplicated. The new sequences can either A BC D EC DEF G or ABC DEE D CPG. Abnormality in size of eyes in Drosophila appears to be due to this reason. Duplications play a role in evolution. Owing to the repetition of genes, additional characters are produced. Inversion : In inversion, there is no loss or gain of genes. But a particular segment of a chromosome is broken and is attached to the same chromosome in an inverted position. So there is rearrangement of the original genes. For example chromosome A B C D E F G is cut between B and C and between E and F. The separated piece C D E undergoes inversion and then rejoins the original chromosome, The new chromosome will have a sequence A B ED C FG, The sequence of gene is changed. Due to this, sometimes phenotypic effects may change.‘Translocation : Sometimes a part of a chromosome becomes separated. This separated piece joins with another chromosome which is not its homologus chromosome. This is called translocation. It plays a significant role in evolution. Chromosomal aberrations are commonly observed in cancer cells. H SnOumennmm Interstitial | Deletion ———Qescssmes Terminal ABCDEFGH —_———O Normal ABCBCDEF GH ‘Tendem ABCCBDEFGH ke Duplication —_——= as verse AB CD ER BC GH psy ABCDEFG ABCDERFG Ch ———— KS CyemeB BFG A Loop Inversion DEFG ABC G Bek et SO ee Ses Rejoin AeCBDE FG AB OE DFG jt Chromosomal Aberrations Gene Mutation ‘Any mutation induced by a change in the constitution of a gene is called gene mutation. DNA is the genetic material. A definite length of a DNA molecule acts as one gene. Mutation also arises due to change in a single base pair of DNA. Such mutation may alter the sequence of the nucleotides within a part of the DNA molecule. This alteration changes the information on the DNA and results in differences in the proteins being produced. This is known as point mutation. A classical example of such mutation is sickle cell anemia, where haemoglobin becomes defective and RBCs take a sickle shape. The following points are noteworthy regarding gene mutation, © Generally a mutated gene is harmful to the individual, © Any gene can undergo mutations. * Mutations may be spontaneous or they may be induced. ® Mutation is an evolutionary agent and mutability is a property of the genetic material. ‘© Such genetic variations are useful in natural selection and evolution of a species. Genetic Disorders Pedigree Analysis : After the discovery of Mendel's work the practice of analyzing inheritance pattern of traits in humans beings began. A record of the occurrence of traits in several generationsof a human family is known as pedigree analysis. For such type of analysis, information about the family history for particular traits is first collected. Then the expressions of the traits are assembled in a chart. ‘The pedigree of a family is represented in the form of a chart. The females are represented by circles and the males are represented by squares. The marriage is indicated by a horizontal bar connecting a circle and a square. The offsprings are suspended from the marriage bar by vertical lines. Individuals in one horizontal line belong to the same generation. Each generation is numbered by roman numbers (I, Il, III, etc) and the individuals in each generation are numbered by 1,2,3,4 and so on. ‘Normal individuals are represented by open circles or squares and affected individuals are represented by closed circles or squares. Heterozygous individuals are represented by closing half of the circles or squares. For example, in the following illustration, a pedigree analysis has been made for polydactyl (the occurrence of extra fingers). ‘The chart shows a marriage between a polydactylous man and a ‘normal’ woman (generation 1) ‘They produce three children, a polydactylous daughter, a polydactylous son and a normal son (generation 11). The first and third individuals of second generation each marry ‘normal’ persons, their children are shown in third generation from the results. We can conclude that a polydactyl offspring appears only when at least one person is polydactylous. 1 soma Fema [7] Noma ate Polydactylous gum Polydactylous Female Male Pedigree of Polydactyl in Man (1) A family pedigree of haemophilia is given below 1 Noma Wonan (acne Man 2 Noma Carer | Noma Wan Women | Man 1 O @ LZ, Normal, ‘Normal, Carrier ‘Haemophiliac Woman ie Soman Man(2) A family pedigree for sickle-cell anemia : Simple pedigree analysis has extensive use in medical research, Before marriage, for some possible hereditary diseases, such chart is very useful for making a decision. Mendelein Disorders Mendelein disorders are mainly determined by alteration or mutation in the single gene. These disorders are transmitted to the offspring on the same lines as we have studied in the principle of inheritance. Most common disorders are haemophilia, colour blindness, sickle-cell anaemia, thalassamia, phenylketonuria, cystic fibrosis, etc. Haemophilia It is a hereditary blood disease caused by delayed blood clotting. This is because of the absence of a factor in the blood-antihaemophilic globulin. Haemophilia is a sex linked recessive character and the genes are located on X chromosome. It is caused by recessive genes represented by hh and the normal condition is due to dominant gene H. The family pedigree of Queen Victoria shows @ number of haemophilic descendants as she was a carrier of the disease. Colour Blindness (Carrier Woman, ‘Normal Man Carrier Woman Colourblind Man (ree cee Eel x | baggy Normal Carrier Normal Colourblind | Carrier Colourblind Normal Colourblind| Woman Woman Man — Man Woman Woman Man Man Inheritance of Colour Blindness In it, the affected persons cannot distinguish red colour and green colour. It is a recessive character. It is caused by recessive genes represented by cc. The normal persons contain the genes CC or Ce or C alone (in man). The genes for colour blindness are located on the X chromosomes. ‘Their alleles are absent from Y chromosome. This character is common in man but rare in woman. ‘The daughter carring one recessive gene for colour blindness is called carrier. The carriers are normal in their vision.Thalassaemia In this case, the required haemoglobin is not generated in the blood of a person who suffers disease through inheritance. It has different types. Out of it test of B Thalassaemia is essential before arranging marriage. Out of male or female, one or both can be thalassaemic minor or thalassaemia major is possible. If out of father or mother, this effective gene is inherited from any one or the two, such offspring does not have the disease, but becomes a carrier for this effective gene. Effective gene from both parents passed to the next generation offspring can be the source of thalassaemia, In such a case both parents are thalassaemic minor. Their child is known as thalassaemia major. Out of husband-wife, if one is thalassaemic minor, they live their family life without any trouble; their children have no fear for thalassaemia major but any one child can be a thalassaemic carrier. Pattern of this disease follows Mendelian principles, and its pedigree is same as colour blindness and haemophilia. from this Sickle Cell Anaemia It is a hereditary disease. This disease is characterized by the presence of sickle-shaped RBCs under low oxygen pressure. It is due to the presence of defective haemoglobin called haemoglobin S (Hb), Sickle cell anaemia is a recessive character caused by the recessive genes HbS Hb®, The normal adult haemoglobin is produced by dominant genes Hb“ HbA. The heterozygous (Hb* Hb’) persons are normal and are the carriers of sickle cell genes. The defect is caused by the substitution of Glutamic acid by Valine at the sixth position of the beta chain of the haemoglobin molecule. Inborn Errors of Metabolism Certain metabolic reactions are defective caused by recessive genes. They are the following: (2) Phenyl Ketonuria + It is an inborn error in metabolism. It is a recessive character caused by recessive genes represented by pp. When these recessive genes are present, the enzyme phenylalanine hydroxylase is not produced. In the absence of this enzyme, phenyl alanine cannot be converted into tyrosine. Phenyl alanine and its derivatives accumulate in the blood and cerebrospinal fluid. The excess of phenyl alanine is excreted in the urine. (2) Allcaptonuria : It is an inborn error in metabolism. It is a recessive character caused by recessive genes represented by aa, When these genes aa are present, the enzyme homogentisic acid oxidase is not produced. In absence of enzyme, homogentisic acid can not be converted to acetoacetic acid as a result homogentisic acid accumulates in the blood. ‘The urine of such persons turns black when exposed to air. (3) Albinism + It is a hereditary defect where the melanin pigments are absent from the skin, hair, eye, etc. It is also an inborn error in metabolism caused by recessive genes represented by ce. ‘When cc are present, the enzyme tyrosinase cannot be produced. Hence tyrosine cannot be converted {nto melanin pigments.Chromosomal Disorders To understand chromosomal disorders, first we have to understand Human Karyotype for study of human chromosomes. The blood culture method is very common. After blood preparation on slide, the number, kind, size, etc of chromosomed can be noted in WBC under microscope study. At this stage, we can photograph the chromosomes observed at metaphase stage. If individual chromosomes are cut out, paired as per size and shape and then arranged in a descending order of size, we can construct a Karyotype of chromosomes. For the understanding, it is shown in a chart as below Blood > repue and @ Sut Slide Clone Seo wid Snr for ‘Obsrve Slide with Miroscope Through the study of Karyotype, we can collect information regarding each chromosome. Here, human disorders caused due to abnormalities in chromosomes are discussed. Down's Syndrome This disorder is caused by trisomy of 21st pair of chromosomes. There are three members in 21st pair instead of two. The total number of chromosomes becomes 47. Symptoms Related to the Disorder © Short structure, large head, short neck. a, rand ce a a6 eE © Folded eyelids as are commonly observed in ‘mongoloid race. i x ‘© Large thick and swollen tongue and drooping lips. © Mental reterdation. Lower sensitivity. © Short, stubby finger : Flat palm. © Poorly developed reproductive organs. © Sterile,‘Turner's Syndrome ‘This is a sex-linked disorder. When a woman has only one X-sex chromosome, instead of the disorder is caused by monosomy of sex chromosomes. normal two, this disease occurs. Thus, ‘Symptoms Related to the Disorder ‘© Short stature. Short, webbed neck. ‘© Phenotypically a woman, but reproductive organs are poorly developed. © Almost flat chest. © Uterus underdeveloped. = Sterile. ‘Turner's Syndrome Klinefelter's Syndrome ‘This is a sex-linked disorder. When there are two or more X-sex chromosomes in a man instead of one, this disorder occurs. Thus, this disorder is caused by trisomy of sex chromosomes. ee | Klinefelter's Syndrome ‘Symptoms Related to the Disorder © Phenotypically a man, but sterile. © Testes under developed © Tall in size, legs much longer. Trunk shorter. © Sparse hairs on body. © Amount of facial hairs low. © Breast development as in women. Broad and flat pelvic girdle and shrill, feminine voice. © Mentally retarded.SUMMARY ‘A branch of Biology called genetics is the study by heredity and variation among related) ‘organisms. Heredity means continuity of features from one generation to another and variation means the occurrence of differences among the individuals of the same species. The scientific, approach for heredity was done by Gregor Johann Mendel. He used the word ‘Factor’, now it is, ‘known as 'gene’. Mendel is called the father of Genetics. Mendel did his work on garden pea (Pisum satival). Mendel crossed two plants differing in| two characters. The experiments considering the inheritance of only one character are called mono Ihybridization experiments. Whereas for two characters, it is known as dihybridization, Based on his ‘observations on monohybrid crosses, Mendel proposed two general rules : (1) Law of Dominance and (2) Law of Segregation. Test cross is arranged for deciding whether an org There were deviations from Mendel's findings. Their examples are: (1) Incomplete dominance) (2) Co-dominance (3) Multiple genes (4) Actions of multiple alleles (ABO blood group system) (5) Pleiotropism. The crossing of two plants differing in two characters is called dihybrid experiment. On the’ ‘basis of dihybrid cross, Mendel derived a law of Independent Assortment. With certain limitations, ‘Mendel worked. After rediscovery of his work, chromosome based inheritance was established. Morgan suggested Linkage and Recombination. He worked on Drosophila (fruit fly.) No satisfactory explanation of the hereditary basis for the sex difference was given before) the rediscovery of Mendel's work. As per chromosome theory of heredity, it was found that sex ‘characters are determined by sex chromosomes. Several experiments were done to understand sex determination in animals and plants. The chromosomal theory is subdivided into: (1) Theory of Iheterogamesis (2) Genetic balance theory (3) Haploid and Diploid mechanism (4) Environmental ‘determination of sex (5) Hormonal influences. It is not always true that offsprings only resemble parents but they also vary from them. All such changes are considered mutations in nature. Mutations can be classified into various types. ‘There are numerical mutations in chromosomes, structural abnormalities in chromosomes, and gene mutation, To understand the genetic disorders, pedigree analysis is done. There are certain Mendelian’ \disorders. Haemophilia, colour blindness, thalassaemia, sickle cell anaemia. Some are inborn errors ‘of metabolism: e.g. Phenylketonuria, alkeptonuria, albinism. Some are chromosomal disorders. e.g. ‘Down's syndrome, Turner's syndrome, Klinefelter’s syndrome. ism is homozygous or heterozygous. EXERCISES 1, Put a dark colour in a given circle for correct answer : () Tumer's syndrome is due to ... (A) Polyploidy O° (B) Polysomic chromosomes fo) (C) Trisomic chromosomes © (D) Monosomic chromosomes O° @) Klinefelter's syndrome has. ..-eeoen (A) 66 +XXY Oo (B) 44+X0 O° (C) 45+xyY O° (D) 44+ Xxy Oo Heredity and Variation ns(3) XXY chromosome is found in .. (A) Tumer’s syndrome Q(B) _Klinefelter’s syndrome ° (C) Down's syndrome O — (D) Cri-du-chat ° (4) Autosomes in humans are (A) 22 Pairs °O (B) 23 Pairs O° (C) 43 Pairs O° (D) 11 Pairs O° (8) A Trisomic individual has a chromosome number of .... (A) 2n-1 ° (B) 2n+3 O° (C) 241 Oo (D) 2n+2 Oo (©The law of segregation was rediscovered by ? (A) De Vries O (8) Corens ° (C) Tschermark ° (D) All of the above O° (Mendel worked on (A) Lathyrus O — (B) Drosophita ° (C) Pisum Oo (D) In all of the above organisms 2. Match the following : (A) Column T Column It (i) Sickle-cell anaemia (a) Homogentisic acid Alkeptonuria (b) Lack of melanin Albinism (c) Accumulation of amino acid (iv) Phenylketonuria (d) Defective haemoglobin @) @ William Bateson (a) Used the word gene Gi) Johansson (b) Used the term factor (ii) Mendel (©) Blood group Gv) Landsteiner (@) The term Genetics was first coined 3. Answer the following questions in short : (1) What is heredity ? (2) Define variation ? (3) What is “genetics” ? (4) Name the plant on which Mendel worked. () Give name of the father of genetics. (6) What are Mendel's hypothetic factors in modern terminology ? (7) What is Mendet's monohybrid ratio ? (8) What is dominant factor-axial flowers or terminal flowers ?(9) What is Mendel’s dihybrid ratio for phenotypes ? (10) What is hybrid ? (11) Name three principles proposed by Mendel. (12) What is a pleiotropic gene ? (13) Name the plant that shows incomplete dominance flower. (14) What are sex chromosomes ? (15) Name two sex-linked diseases. 4. Short Answer Questions (2 marks each) : (1) Which heredity principle can be derived from a cross showing 3:1 ratio in the F, generation? (2) Which heredity principle can be derived from a cross showing 9 : 3: 3: 1 ratio in the F, generation? (3) Make a list of the seven pairs of contrasting traits selected by Mendel for breeding experiments. (4) What is aneuploidy ? Give an example of it. (5) How is sex determined in human beings ? (© State whether the following sentences are True or False : (1) Father of genetics is Morgan. (2) Human blood groups are determined by multiple alleles. (3) The term mutation was introduced by Darwin. respect to the colour of the (A cross between F, individual and a recessive parent is called test cross. 5. Answer the following questions in detail : (1) Why did Mendel use pea as the experimental material in his experiments ? (2) Give a brief outline of the experiments conducted by Mendel. (3) Discuss Mendel's laws of inheritance in brief. (4) Which law of Mendel do you think is most important and why ? (5) Which are the deviations from expectations of Mendel’s laws ? (6) Difference between the following : (@) Dominant gene and Recessive gene (b) Homozygous gene and Heterozygous gene (©) Monohybrid and Dihybrid (7) Explain the law of the dominance. (8) Define and design a test cross. (9) Explain the following : (@) Co-dominance (b) Incomplete dominance. (10) Briefly mention the contribution of T. H. Morgan in genetics. (11) Prepare a chart of Monohybrid cross. (12) Prepare a chart of Dihybridization,(13) In pea, inflated pods (1) are dominant, shrunken pods (i) are recessive. State the probable phenotypes and their ratio in IT x ii, and Wd x it, (14) Explain the terms : heredity, allele, factor, gene, genotype, linkage. (15) Give explanation of the following : (@) Law of segregation (b) Law of independent assortment (16) Write a short note on : (@) Chromosomal basis of Inheritance. (b) Genes responsible for blood groups. (17) Describe the test cross experiment. (18) Explain sex determination in Drosophila, (19) What is genetic balance. 20) Describe environmental influence on sex-determination in Bonellia. (21) Explain inheritance of colourblindness. (22) Haemophilia is a case of recessive expression of, in case of two sons of a couple, one is haemophilic. What is the probability of inheritance of haemophilia in their daughter ? Explain. (23) State main types of mutation. (24) What is chromosomal aberration ? (25) State and explain one example based on chromosomal aberration. (26) How does genetic mutation arise ? (27) Explain the following terms : ‘Mutation, Translocation, Nullisomy, Trisomy, Autosomal ancuploidy (28) Write short note on : (1) Euploidy (2) Aneuploidy (3) Deletion (4) Inversion (29) Mention the diseases caused by chromosomal aneuploidy. (30) Explain the genetic basis of the following diseases: (1) Phenytketonuria (2) Alkeptonuria (3) Sickle Cell Anaemia (4) Albinism 31) Write a Short note on : (1) Down's Syndrome (2) Turner's Syndrome (3) Klinefelter’s Syndrome (32) Why should thaelassemia test be perfomed ? Explain.