Principles of Inheritance and Variation [TOPIC 1] Mendel's Laws of Inheritance + Genetics is the branch of biology, which deals with the study of pattern of inheritance and variation of characters from parents to offspring. Inheritance is the process by which characters or traits are transferred from one generation to the next. Variation is the degree by which progenies differ from each other and from their parents. Humans knew from as early as 8000-1000 BC, that one of the causes of variation was hidden in sexual reproduction. + Gregor Johann Mendel for the first time conducted experi hheritance of variation in living beings. jents to understand the pattern of 1.1 Mendel's Experiment Mendel’s Experimental Material (i) He conducted experiments on garden pea plant (Pisum sativum) for seven years (1856-1863) and proposed the laws of inheritance in living organisms. (ii) He selected garden pea plant as experimental material because (a) It is easily available on a large scale. (b) Many varieties are available with distinct characteristics. (c) They are self-pollinated and can be cross-pollinated easily. (d) Pea plant has a shorter life cycle and it enables the geneticists to study many generations of the pea plant in a short time period (iii) Mendel selected 14 true-breeding (a breeding line which has undergone continuous self-pollination and shows stable trait inheritance and expression for several generations) pea plant varieties, as pairs, which were similar except for one character with contrasting traits.Seven contrasting characters and their traits as taken by Mendel are listed in the table given below Contrasting Characters Studied by Mendel in Pea Contrasting character Character (Dominant/Recessive) _Stem height _ Tall/Dwarf _ Flower colour Violet/W1 Flower position “Pod shape “Pod colour Axial/Terminal Inflated/Constricted_ _ Green/Yellow Round/Wrink Yellow/Green Seed colour Mendel's Experimental Procedure (i) He studied one trait or character at a time, e.g. he crossed tall and dwarf pea plants to study the inheritance of one gene that confers tallness or dwarfness. (if) Mendel hybridised plants with alternate forms of a single trait (monohybrid cross). The seeds produced by these crosses were grown to develop into plants of Filial, progeny or F,-generation. (iii) He then self-pollinated the tall F, plants to produce plants of Filial, progeny or Fy-gener (iv) In later experiments, Mendel crossed pea plants with two contrasting characters, such a cross is known as dihybrid cross. (v) Mendel also self-pollinated the F, plants. (vi) Mendel used emasculation and bagging-like procedures to avoid unwanted pollination in his experiments Mendel's Observations in His Experiment (i) In F,-generation, Mendel found that all pea plants were tall and none was dwarf. (ii) He also observed other pair of traits and found that F, always resembled one of its parents, while the trait of other parent was always masked. (iii) In F,-generation, he found that some of the offsprings were dwarf, i. the characters which were not seen in F, generation were expressed in F,-generation. (iv) These contrasting traits (tall/dwarf) did not show any mixing either in F, or in F,-generation. (v) Similar results were obtained with the other traits that he studied. Only one of the parental tre was expressed in F,-generation, while in F,-generation, both the traits were expressed in the ratio of 3 : 1 (vi) Mendel also found identical results in dihybrid cross as in monohybrid cross. (vii) On self-pollinating F, plants, he found that dwarf F, plants continued to generate dwarf plants in F, and F,-generations. Inferences of Mendel's Experiments (i) Mendel observed that something was being passed down from parents to offspring through the gametes over successive generations. He called these as ‘factors’. The ‘Mendelian ‘factors’ are now known as genes. (ii) Genes are considered to be the units of inheritance. They contain the information required to express a particular trait. (iii) Genes which code for a pair of contrasting traits are called alleles or allelomorphs, i.e. they are slightly different forms or two alternative forms of the same gene. (iv) Mendel also proposed that in a true breeding variety, the allelic pair of genes are identical. For example, TT and tt for tall or dwarf pea variety, respectively. (v) TT and tt represent genotype of a trait. (vi) The observable external features, e.g. tall and dwarf represent the phenotype. (vii) When the tall (TT) and dwarf (tt) pea plants produce gametes, the alleles of the parental pair segregate from each other and only. one allele is transmitted to a gamete.(viii) The gametes of the tall TT plants have the allele T and that of dwarf tt plants have the allele t. (ix) This segregation of alleles is a random process and so there is a 50% chance of a gamete containing either allele, as verified by the results of crossings. After fertilisation of plant with TT and tt traits, hybrids are formed that contain Tt. (x) Mendel found the phenotype of Tt to be similar as TT parent in appearance. He proposed that in a pair of dissimilar factors, one dominates the other (T in this case), while the other factor (t) is recessive. In other words, in a pair of dissimilar factors, one factor is able to express itself and is known as dominant, while another factor is unable to express itself and is known as recessive. Alleles can be similar in case of homozygous condition like TT or tt and dissimilar in case of heterozygous condition like Tt. (xii) Dominant character is expressed in homozygous as well as in heterozygous condition, while recessive character is expressed only in its homozygous condition. (xiii) Since, the Tr plant is heterozygous for genes controlling one character (height), it is a monohybrid and the cross between TT and ttis a monohybrid cross. (xi Punnett Square (i) The production of gametes by the parents, the formation of the zygote, F, and F,- generations can be understood by a diagram called Punnett square, developed by a British geneticist RC Punnett. (ii) The Punnett square is a graphical representation to calculate the probability of all possible genotypes of offspring in a genetic cross. (iii) The 1/4 :1/2:1/4 genotypic ratio of TT: Tt: tis mathematically condensable to the form of binomial expression (ax + by)” (ax + by)? that has the gametes bearing genes T or t in equal frequency of 1/2. (iv) The expression can be expanded as 2 (ir+41) -(Srehs(}t+h) 2 2 2 2 2 2 Gametes cametes AO NO ‘ F,-generation x Tal, Seling “Ta, Tt Tt Gametes O40 ® oO Fegeneration Phenotypic ratio “Tall: Dwart ar Gametes Gonotypic ratio: TT: Tt tt Vist Figure 5.1 A Punnett square used to understand a typical monohybrid cross conducted by Mendel between ‘rue-breeding toll pionts and true-breeding dwarf plants 1.2 Test Cross It is a method devised by Mendel to determine the genotype of an organism. It is performed to know whether an organism is homozygous dominant (TT) or heterozygous dominant (Tt) A test cross is conducted between unknown dominant genotype and the recessive parent. It is a type of backcross where F, progeny is crossed to one of its parent.(i) For example, F, hybrid (Tt- heterozygous of a pure tall plant, i.e. TT and a pure dwarf plant, ie. tt) is crossed with a pure dwarf parent plant. (Pure dwarf) t | | Parents Ono © Gametes. SO @) ® Tal wart (Hybrid tall) q Progeny In this example, the progeny consists of tall and dwarf plants in the ratio of 1:1. Thus, monohybrid test cross ratio is 1:1 (ii) In case of both homozygous parents, ic. TT and tt, the progeny obtained will have all tall plants. Tall ° i [ 7 Q () — Gametes Parents, : Progeny ® Tall In case of dihybrid test cross, where two traits are taken, a heterozygous individual is. crossed with a homozygous recessive parent, the dihybrid test cross ratio comes asiih:1:1 (Yellow round seed) (Green wrinkled seed) Yr x yyr Parents ®O@Q®H ) Gametos << —S> S| hr vy Ar yy Progeny (elow (yellow (Green (Green found) wrinkled) round) wrinkled) 1.3 Mendel's Laws of Inheritance Mendel’s laws of inheritance are based on his observations of monohybrid (first and second law) and dihybrid crosses (third law). He proposed following three laws Law of Dominance (First Law) It states that characters are controlled by genes which occur in pairs. When two alternate forms of a trait or character (genes or alleles) are present in an organism, only one factor (dominant) expresses itself in F, generation, while the other factor (recessive) remains hidden. This is known as law of dominance. It explains expression of genes in a monohybrid cross. In such a cross, in the F,-generation, phenotypic ratio is 3 : 1, while genotypic ratio is 1:2: 1. There are two exceptions to law of dominance. These include incomplete dominance and codominance. Law of Segregation (Second Law) It states that the factors or alleles of a pair segregate from each other during gamete formation, in a way that a gamete receives only one of the two factors. They do not show any blending or mixing. It is also known as law of purity of gametes. There is no exception to law of segregation Law of Independent Assortment (Third Law) Itis based on the inheritance of two genes, ic. dihybrid cross. It states that when two pairs of contrasting traits are combined in a hybrid, segregation of one pair of characters is independent of the other pair of characters. Thus, the genes get randomly rearranged in the offsprings, producing both parental and new combinations of characters. Therefore, the inheritance of one character does not affect the inheritance of another character and both the characters assort independently.‘The Punnett square can be used to understand the independent segregation of the two pairs of genes during meiosis. Linkage is an exception to the law of independent assortment [eo 8 (Round yellow) (Wrinkled green) P-generation RRYY x my l | \ ® o © (Round yellow) Ry | Setfing Phenotypic Round : Round : Wrinkled : Wrinkied ratio yellow green yellow green 9 3 3 1 Figure 52 A Punnett square used to understand Mendels, low of Indenendent assortment 1.4 Deviation from Mendelism The inheritance patterns that show deviation from Mendelism are discussed below Incomplete Dominance It is a phenomenon in which the F,-hybrid shows characters intermediate of the parental genes. In incomplete dominance, dominant allele is not able to mask the characters of recessive allele completely, hence an intermediate phenotype is obtained. In this process, the phenotypic ratio of F,-generation deviates from the Mendel’s monohybrid ratio. Incomplete dominance is an exception to Mendel’s law of dominance. Example, inheritance of flower colour in the dog flower (snapdragon or Antirrhinum sp.) and four O' clock plant (Mirabilis jalapa), In snapdragon, cross between red flower (RR) and white flower (rr) plant, produces the F,-generation containing pink (Rr) flower. When F, plants are self-pollinated, the F,-generation containing red, pink and white flowers in the ratio of 1:2:1 is formed. In incomplete dominance, genotypic ratio of F, remains same as Mendel’s monohybrid cross, i.e. 1 : 2 : 1, but phenotypic ratio changes from 3: 1 to 1 : 2: 1. Hence, in this case, both phenotypic and genotypic ratios are similar. (Red) (White) Parents RR x w 4 4 @) ©) Gametes @)Atvine —Fy-generation ax Fe at alee] (Red) (Pink) F,-generation fg ' 1) (Pink) (White) Phenotypic ratio Red ; Pink Pink ; White Genotypic ratio a Rr Rr w Sa Figure 5.3 Monohybrid cross in the plant snopdragon where ‘one allele is incompletely dominant over the other alleles Codominance It is a phenomenon in which two alleles are able to express themselves independently when present together, i.e, both alleles are codominant. ‘These alleles are called codominant alleles. The offsprings show resemblance to both the parents. (i) A common example of codominance is ABO. blood group in humans, which is controlled by the gene I. (ii) The gene for blood group exists in three allelic forms I“, I® and i, However, an individual contains any two of the three Talleles.(ii) T* and I® produce RBC surface antigens ‘Aand B, respectively, whereas ‘i’ does not produce any antigen. (iv) * and I® both are dominant alleles, whereas ‘i’ is the recessive allele. (v) When IA and I® are present together, both express equally and produce both the surface antigens A and B, respectively. (vi) These three different alleles may produce six different genotypes of human ABO blood group that may show four phenotypes, ie. A,B, AB and O. Genetic Basis of Blood Groups in Human Population Allele from Allele from Genotype Blood types of offspring of offspring Multiple Allelism When more than two alleles are present for a character then, the condition is known as multiple allelism. It can be explained by ABO blood grouping. In this case, more than two, i. three alleles are governing the same character. Multiple alleles can be found only when population studies are made since, an individual can have only two alleles Pleiotropy It is the phenomenon in which a single gene exhibits multiple phenotypic expressions. It means that a single pleiotropic gene may produce more than one effect. For example, (i) Phenylketonuria, which is a disorder caused by the mutation in the gene encoding for enzyme phenylalanine hydroxylase. In the absence of this enzyme, phenylalanine is not converted into tyrosine and accumulation of phenylalanine takes place. The affected individuals show hair and skin pigmentation and mental retardation. (ii) Starch synthesis in pea seeds is controlled by one gene with two alleles (B and b). (a) Starch is synthesised effectively by the homozygotes, BB and hence, the starch grains are large and the seeds at maturity become round. (b) The homozygotes, bb are less efficient in starch synthesis, hence they have small starch grains and the seeds are wrinkled. (c) The heterozygotes, Bb produce round seeds, indicating that B is the dominant allele, but the starch grains are intermediate in size and hence, for the starch grain size, the alleles show incomplete dominance. It is an example of pleiotropy as the same gene controls two traits, ie. seed shape and size of starch grains. (d) Here, it is to be mentioned that dominance is not an autonomous feature of the gene or its product, but it depends on the production of a particular phenotype from the gene product. Polygenic inheritance The concept of polygenic inheritance was given by Galton in 1833. In this, traits are controlled by three or more genes (multiple genes). Such traits are called polygenic traits. The phenotype is produced as a result of participation of several genes and is also influenced by the environment. It is also called quantitative inheritance as the character or phenotype can be quantified. For example, human skin colour is produced by a pigment melanin. ‘The quantity of melanin is due to three pairs of polygenes (A, B and C). Ifa black or very dark (AA BB CC) and white or very light (aa bb cc) individuals marry each other, the offspring showsintermediate colour who are often called mulatto (Aa Bb Cc). A total of eight allele combinations are possible in the gametes forming 27 distinct genotypes. Complementary Genes These genes complement the effect of each other to produce a phenotype. For example, in case of sweet pea (Lathyrus), the flower colour is due to complementary genes. Here, one gene complements the expression of another gene, but neither of them produces the trait in the absence of other. Phenotypic ratio obtained in this case is 9 : 7. 1.5 Rediscovery of Mendel’s Laws (i) Though, Mendel published his work on inheritance of characters in 1865, it remained unrecognised for several reasons till 1900. Some of these reasons are as follows (a) Communication was difficult, so his work could not be widely publicised. (b) His concept of genes as stable unit which control the expression of traits and that the pair of alleles do not blend was not accepted. (c) His idea of using mathematics to explain biological phenomenon was new and unacceptable. (d) He could not provide any physical proof for the existence of factors, i.e. where these factors are located in the cell. (ii) In 1900, Hugo de Vries, Correns and von Tschermak rediscovered Mendel’s results independently. Due to advanced microscopy, they carefully observed cell division. (iii) This led to discovery of chromosomes (structure in the nucleus that gets double and divides just before each cell division). 1.6 Chromosomal Theory of Inheritance This theory was proposed independently by Walter Sutton and Theodore Boveri in 1902. They united the knowledge of chromosomal segregation with Mendelian principles and called it chromosomal theory of inheritance. ‘The main points of this theory are as follows (i) Gametes (sperm and egg) carry and transmit hereditary characters from one generation to another. (ii) Nucleus is the site where hereditary factors are present. (iii) Chromosomes as well as genes are found in pairs. Gy Gp Meiosis- anaphase Meiosis: anaphase Germ cells Figure 6.4 Meiosis and germ cell formation in a cell with four chromosomes (iv) The two alleles of a gene pair are located on homologous sites on the homologous chromosomes. During meiotic anaphase-1, separation of homologous chromosomes takes place. (v) The sperm and egg having haploid sets of chromosomes fuse to regain the diploid state. (vi) Homologous chromosomes synapse during meiosis and get separated to pass into different cells. It is the basis of segregation and independent assortment during meiosis.Sutton and Boveri said that the pairing and separation of a pair of chromosomes would lead to the segregation of a pair of factor they carry. Experimental Verification of the Chromosomal Theory of Inheritance This was done by Thomas Hunt Morgan and his colleagues. Morgan selected fruitfly, Drosophila melanogaster for his experiments because of the following reasons (i) They could be grown on simple artificial medium in the laboratory. (ii) Their life cycle is only about two weeks. (iii) A single mating could produce a large number of flies. (iv) There was a clear differentiation of the sexes, i.e. male (smaller) and female (bigger). (¥) Ithas many types of hereditary variation that can be easily seen through low power microscopes. 1.7 Linkage and Recombination (i) The physical association of wo or more genes on a chromosome is called linkage. In other words, when two or more genes are closely located on a chromosome, then both the genes are passed on together in the next generation. This type of inheritance of genes is known as linkage. Tt is an exception of Mendel’s law of independent assortment. (ii) Recombination involves the generation of non-parental gene combinations. (iii) To explain the phenomena of linkage and recombination, Morgan carried out several dihybrid crosses (iv) Parental Fy-generation Fe-generation in Drosophila to study genes that were ses x-linked. He mainly studied the genes that are located on X-chromosome. He observed that + two closely located genes did not segregate independently of each other * the proportion of parental gene combinations were much higher than the non-paren when two gi tal types, sin a dihybrid cross were situated on the same chromosome. Morgan concluded this as a physical association or linkage. The diagram given below represents the experiments conducted by Morgan. Cross A Cross B g oc g w yo wt wom m* > dao>| | am aoe Yelow, white widtype | fwnite. miniature wid iype ¢ |e g | ¢ yw yw yo cm dao) faim aio yrwe wt m> v Wilstype Yellow, white} | Wid tye White, miniature Gametes Parental" Recombinant Parental * Recombinant type (98.7%) types (1.3%) type (62.8%) types (37.2%) ytw ytw wi mt whim a> a| | aD at Wild type a v Wid type Miniature yw yw wom ow om > ame | fam di ‘Yellow, white Yellow White, miniature White ytwe yw we mt P| | a Wide” White Wie type Miniature | y w y we wom womt > amm| | am duo yw ye TO I Yelow.white_"Yotow | [wate nature” wna Figure 5.5. Linkage result of two dihybrid crosses conducted by Morgan, Cross ‘A’ shows crossing between genes y and w ; Cross ‘2 shows crossing between genes w and m. Here, dominant wild type alleles are represented with (+) sign in su Script. Th e strength of linkage between Y ond W is higher than W ond M.¥) Linkage « (1) Linkage «5 cance between two genes If two genes are very close to each other, then they are tightly linked and there are very less chances of recombination. However, if two genes are located far from cach other, then they are loosely linked and there are more chances of recombination. (vi) Morgan and his group also found that even when genes were grouped on the same chromosome, some genes were very tightly linked (very low recombination), while others were loosely linked (high recombination). (vii) Recombination of linked genes occurs by crossing over, i.c. exchange of corresponding parts between the chromatids of homologous chromosomes. (viii) Alfred Sturtevant (Morgan’s student) 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. Genetic maps are now used as a starting point in the sequencing of whole genomes. The same were used in case of Human Genome Sequencing. Project. PREVIOUS YEARS’ EXAMINATION QUESTIONS TOPIC 1 (J 1Mark Questions 1, Name the pattern of inheritance where F,-phenotype () resembles only one of the two parents. (i) does not resemble either of the two parents and is in between the two. AlLindia 2019 Or Name the respective pattern of inheritance, where F, phenotype (® does not resemble either of the two parents and is in between the two. (ii) resembles only one of the two parents. Allindia 2012 2, British geneticist RC Punnett developed a graphical representation of a genetic cross called ‘Punnett Square’. Mention the possible result this representation predicts of the genetic cross carried. thi 201g 3. Name the type of cross that would help to find the genotype of a pea plant bearing violet flowers. all india 2077 4. State a difference between a gene and an allele. all india 2016 5. Give an exampie of polygenic trait in humans. pethiz016¢ Or On what basis is the skin colour in humans considered polygenic: 2016 6. A geneticist interested in studying variations and patterns of inheritance in living beings prefers to choose organisms for experiments with shorter life cycle. Provide a reason. Delhi 2015 7. Mention any two contrasting traits with respect to seeds in pea plant that were studied by Mendel. ail india 2014 8. What are ‘true-breeding lines’ that are used to study inheritance pattern of traits 9. How many kinds of phenotype would you expect in F,-generation in a monohybrid cross exhibiting codominance? allindia 2014 10. Name the stage of cell division where segregation of an independent pair of chromosomes occurs. All india 2014 Or Name the event during cell division cycle that results in the gain and loss of chromosomes. Delhi 201WW. 12. 14, 15. 16. 17. 18. 19. A garden pea plant (A) produced inflated yellow pod and another plant (B) of the same species produced constricted green pods. Identify the dominant traits. peihizaw A garden pea plant produced axial white flowers another of the same species produced terminal violet flowers. Identify the dominant traits. ail india 2012 Ina dihybrid cross, when would the proportion of parental gene combinations be much higher than non-parental types, as experimentally shown by Morgan and his group? allindia 2012 Write possible genotypes Mendel got when he crossed F, tall plant with a dwarf pea plant. Foreign 2012 Garden pea plant produced round, green seed. Another of same species produced wrinkled yellow seeds. Identify dominant traits. Foreign Mention two contrasting flower related traits studied by Mendel in pea plant experiments. All india 200 Name the contrasting pod related traits studied by Mendel in his pea plant experiment. allindia 200 Mention the type of allele that expresses itself only in homozygous state in an organism. Foreign 2am Pea flowers produce assured seed sets. Give a reason. All India 2010 @ 2 Marks Questions 21. Or 22. Explain polygenic inheritance with the help of an example. All india 2019 When does a geneticist need to carry a test cross? Foreign 2015 How would you find the genotype of an organism exhibiting a dominant phenotype? pelhi zorzc Why did TH Morgan select Drosophila melanogaster to study sex-linked genes for his lab experiments. Foreign 2015 Or Write the scientific name of the fruitfly. Why did Morgan prefer to work with fruit flies for his experiments? State any three reasons. all india 2014 23. Give an example of a gene responsible for multiple phenotypic expressions. What are such genes called? State the cause that is responsible for such an effect. Or Explain pleiotropy with the help of an example. Foreign 2014 24. The F, progeny of a monohybrid cross showed phenotypic and genotypic ratio as 1:2: 1, unlike that of Mendel’s monohybrid F, ratio. With the help of a suitable example, work out a cross and explain how it is possible. allingia 2018 Or Why are F, phenotypic and genotypic ratios are same in a cross between red flowered snapdragon and white flowered snapdragon plants? Explain with the help of cross, Delhi 2010 With the help of one example, explain the phenomena of codominance and multiple allelism in human population. all indio 2014 26. Linkage and crossing over of genes are alternatives of each other. Justify with the help of an example. ailindia 2014 27. In snapdragon, a cross between true-breeding red flowered (RR) plants and true-breeding white flowered (rr) plants showed a progeny of plants with all pink flowers. ( The appearance of pink flowers is not known as blending. Why? (ii) What is this phenomenon known as? ‘All india 2014 28. A cross was carried out between two pea plants showing the contrasting traits of height of the plants. The results of the cross showed 50% parental characters. (i) Work out the cross with the help of a Punnett square. (ii) Name the type of the cross carried out. Del29. How does the gene ‘I’ control ABO blood group in humans? Write the effect the gene has on the structure of red blood cells. Deshi 2014 30. Study the figures given below and answer the question. Cross A o yw ytwt ae ae = — Yellow, white Wild type Cross B g o yo wt gt SSS ey avert) White, miniature Wild type Identify in which of the crosses, the strength of linkage between the genes is higher. Give reasons in support of your answer. Foreign 2014 31. A cross between a red flower bearing plant and a white flower bearing plant of Antirrhinum produced all plants having pink flowers. Work out a cross to explain how this is possible. all india 2013 Or Explain the mechanism of inheritance of the progeny produced when two Antirrhinum pinks flowers were crossed. All india 2012 32. Work out a cross to find the genotype of a tall pea plant. Name the type of cross. ‘Allindia 2013 33. Differentiate between multiple allelism and pleiotropy with the help of an example of each. Delhi zo13¢ ‘34, In a cross between two tall pea plants, some of the offsprings produced were dwarf. Show with the help of Punnett square, how this is possible. oelhi 2013 Or When a tall pea plant was selfed, it produced one fourth of its progeny as dwarf, Explain with the help of a cross. Delhi 2¢ 35. In a typical monohybrid cross, the F, population ratio is written as 3 : 1 for phenotype, but expressed as 1 : 2: 1 for genotype. Explain with the help of an example. all india 2013 Or Tallness of pea plant is dominant trait, while dwarfness is the alternate recessive trait. When a pureline tall is crossed with a pureline dwarf, what fraction of tall plants in F,-generation shall be heterozygous? Give reasons. _oelhi20ne 36. How is the phenotypic ratio of F,-generation in a dihybrid cross is different from monohybrid cross? ‘ll nda. 2012 37. Ina dihybrid cross, white-eyed, yellow-bodied female Drosophila crossed with red-eyed, brown-bodied male Drosophila produced in F,-generation 1.3% recombinants and 98.7% progeny with parental type combinations. This observation of Morgan deviated from Mendelian F,-phenotypic dihybrid ratio. Explain, giving reasons Morgan's observation. Foreign 2011 @ 3 Marks Questions 38. Explain the phenomena of dominance, multiple allelism and codominance taking human ABO blood group as an example. All india 2018 39. Compare in any three ways the chromosomal theory of inheritance as proposed by Sutton and Bovery with that of experimental results on pea plant presented by Mendel. belhi 2019 (@ Explain linkage and recombination as put forth by TH Morgan based on his observations with Drosophila melanogaster crossing experiment. Gi) Write the basis on which Alfred Sturtevant explained gene mapping. 40. 41. What is a test cross? How can it decipher the heterozygosity of a plant? all india 201642. How would you find genotype of a tall pea plant bearing white flowers? Explain with the help of a cross. Name the type of cross you would use. Delhi 2016 Although Mendel published his work on inheritance of characters in 1865 but for several reasons, it remained unrecognised till 1900. Explain giving three reasons, why did it take so long. Delhi 2016¢ Or Mendel published his work on inheritance of characters in 1865, but it remained unrecognised till 1900. Give three reasons for the delay in accepting his work. pelhi 2014 Explain the laws that Mendel derived from his monohybrid crosses. oelhi2016c 45. A teacher wants hishher students to find the genotype of pea plants bearing purple coloured flowers in their school garden. ‘Name and explain the cross that will make it possible. nethi 2015 46. During a monohybrid cross involving a tall pea plant with a dwarf pea plant, the offspring populations were tall and dwarf in equal ratio. Work out a cross to show how it is possible. allindia 2015 47. Explain with the help of a suitable example, the inheritance of a trait where two different dominant alleles of a trait express themselves simultaneously in the progeny. Name this kind of inheritance pattern. All india 20140 Explain polygenic inheritance with the help of a suitable example. all india 2014 49, Morgan carried out several dihybrid crosses in Drosophila and found F, ratios deviated very significantly from the expected Mendelian ratin Explain his finding with the help of an example. All india 20140; Delhi 2010 (i) Write the conclusion Mendel arrived at on dominance of traits on the basis of monohybrid crosses that he carried out in pea plants. Gi) Explain why a recessive allele is unable to express itself in a heterozygous state. Foreign 2014 & & 51. In pea plants, the colour of the flower is either violet or white, whereas human skin colour shows many gradation. Explain giving reasons how it is possible. Delhi 2orse 52. (i) Explain the phenomena of multiple allelism and codominance taking ABO blood group as an example (ii) What is the phenotype of the following? (a) i (b) ii 53. A pea plant with purple flowers was crossed with white flowers producing all plants with only purple flowers. On selfing, these plants produced 482 plants with purple flowers and 162 with white flowers. What genetic mechanism accounts for these results? Explain. Dethizomt 54. Work out a cross between true breeding red and white flowered dog flower plants (snapdragon) upto F, progeny. Explain the results of F, and F,-generation. Foreign 2010 (@ 5 Marks Questions 55. (i) Work out the crosses so as to obtain the phenotypic ratios given below : (a) 1:2: 1 Gin Fy-generation) (b) 3: 1 (in F,-generation) (©) 1: 1 (in F,-generation) (ii) Differentiate between pleiotropy and polygenic inheritance patterns. AlLindia 2019 56. Differentiate between incomplete dominance and codominance, Substantiate your answer with one example of each. nelhi 2019 57. (i) Write the scientific name of the organism Thomas Hunt Morgan and his colleagues worked with for their experiments. Explain the correlation between linkage and recombination with respect to genes as studied by them.Gi) How did Sturtevant explain gene mapping while working with Morgan? 208 58. State and explain the ‘law of independent assortment’ in a typical Mendelian dihybrid cross. Delhi 207 Or Using Punnett square show the F, result of a dihybrid cross where the pure breed parents have contrasting traits with reference to seed shape and seed colour in Pisum sativum. Give the phenotypic ratio. ‘eli 20136 Or Workout a typical Mendelian dihybrid cross and state the law that he derived from it. Ail india 2014 59. (i) What is polygenie inheritance? Explain with the help of a suitable example. (ii) How are pleiotropy and Mendelian pattern of inheritance different from polygenic pattern of inheritance? All india 2016 60. (i) Acouple with blood group A and B, respectively have a child with blood group O. Work out a cross to show how it is possible and the probable blood groups that can be expected in their other offspring. (ii) Explain the genetic basis of blood groups in human population. All nia 20166, Dathi 2015, 61. (i) State and explain the law of segregation as proposed by Mendel in a monohybrid cross, (ii) Write the Mendelian F, phenotypic ratio in a dihybrid cross. State the law that he proposed on the basis of this ratio. How is this law different from the law of segregation? Foreign 2015 62. Give a genetic explanation for the following cross. When a tall pea plant with round seeds was crossed with a dwarf pea plant with wrinkled seeds then all the individuals of F,-population were tall with round seeds. However, selfing among F,-population led toa 9:3:3:1 phenotypic ratio. allindia 2015 63. A cross was carried out between a pea plant heterozygous for round and yellow seeds with a pea plant having wrinkled and green seeds. (i) Show the cross in a Punnett square (ii) Write the phenotype of the progeny of this cross. Gi) What is this cross known as? State the purpose of conducting such a cross. All india 20140; Foreign 2014 64, Work out a monohybrid cross up to Fy-generation between two pea plants and two Antirrhinum plants both having contrasting traits with respect to colour of flower. Comment on the pattern of inheritance in the crosses carried above. _allindia 2014 () Differentiate between dominance and codominance. (ii) Explain codominance taking an example of human blood groups in the population. all india 2013 () Explain Mendel’s law of independent assortment by taking a suitable example. (ii) How did Morgan show the deviation in inheritance pattern in Drosophila with respect to this law? All India 2013 67. What is the inheritance pattern observed in the size of starch grains and seed shape of Pisum sativum. Work out the monohybrid cross showing the above traits. How does this pattern of inheritance deviate from that of Mendelian law of dominance? belhi 2013 Or Pea seeds with BB alleles have round seeds and large starch grains, while seeds with bb alleles have wrinkled seeds with small starch grains. Work out the cross between these two parents. Explain the phenotypic ratio of the progeny with respect to seed shape and the starch grain size of the progeny produced. AiLindia 2012668. Differentiate between the following. (i) Polygenic inheritance and pleiotropy. (i) Dominance, codominance and incomplete dominance. ‘Al india 2013¢; Delhi 2011 69. (i) List three different allelic forms of gene T' in human. Explain the different phenotypic expressions, controlled by these three forms. Gi) A woman with blood group A marries a man with blood group O. Discuss the possibilities of the inheritance of the blood group in the following starting with ‘yes’ or ‘no’ for each, (a) They produce children with blood group A only. (b) They produce children, some with O blood group and some with A blood group. pethi zo 70. (i) Explain monohybrid cross taking seed coat colour as a trait in Pisum sativum. Work out the cross up to Fy-generation. (ii) State the law of inheritance that can be derived from such a cross. (ii) How is the phenotypic ratio of F,-generation different in a dihybrid cross? allindia 2012 71. When a garden pea plant with violet flowers was crossed with another plant with white flowers, 50% of the progeny bear violet flowers. (i) Work out the cross. (ii) Name the type of cross and mention its significance. Gii) How does the inheritance pattern of flower colour in snapdragon differ from the above? bethi o10c Or When a garden pea plant with green pods was cross-pollinated with another plant with yellow pods, 50% of the progeny borne green pods. (i) Work out the cross to illustrate this. (ii) How do you refer to this type of cross? Why is such across done? _ail india 20106 @ Explanations 1.(i) Dominance (ii) Incomplete dominance or (i) Incomplete dominance 2) (ii) Dominance. we) 2. Punnett square helps to predict the probability of all the possible genotypes of offspring in a genetic cross o 3. To find the genotype of a pea plant bearing violet, flowers, test cross would be carried out in which the plant with dominant trait, ie. violet flowers, will be crossed with its recessive parent. o 4. Avunit of inheritance which is passed down from parent to offspring through the gametes over successive generations is known as gene. a Genes consist of a pair of contrasting forms for a character that are known as alleles. a) 5. An example of a polygenic trait in humans is skin colour. Or Skin colour is considered to be a polygenic trait because it is under the control of many genes. 1) 6. A geneticist interested in studying variations and patterns of inheritance in living beings prefers to choose organisms with shorter life cycle, because it enables the geneticist to study many generations of the organism in a short time period o 7. Two contrasting seed traits studied by Mendel are (i) Seed shape Round and wrinkled, an (ii) Seed colour Yellow and green. a) 8. True-breeding lines are those plants, which have undergone continuous self-pollination and show stable trait inheritance and expression for several generations. o 9. In codominance, alleles are able to express themselves independently when present together. Thus, in a monohybrid cross there would be three kinds of phenotype in the F,-generation showing codominance. o 10. During meiotic anaphase-1 of cell division, the separation of independent pair of chromosomes occurs. Or Non-disjunction of chromosomes during anaphase-I of meiosis results in the gain or loss of chromosomes. a71, The dominant trait in the pea plant is inflated green pods while the recessive trait is constricted yellow pods. o ‘The dominant trait in the pea plant is axial violet flowers, while the recessive trait is terminal white flowers. o ‘The proportion of parental gene combination is much higher than non-parental types, when the two genes show linkage and are inherited together. a Te and tt (in ratio of 1:1) genotypes were obtained on crossing F, tall plant with a dwarf parent plant. It is a test cross. o ‘The dominant trait in pea plant is round and green seeds, while the recessive trait is wrinkled and yellow seeds. o 12, 13, 14, 15. 16. The two contrasting flower traits in pea plant are (4) Violet fowers and white flowers. (vay (ii) Axial flowers and terminal flowers. (ay 17, The two contrasting pod related traits in pea plant are (i) Inlated/Constricted shape. (ii) Green/Yellow colour. 18. Recessive allele expresses itself only in homozygous condition because in the presence of a dominant allele its effect is masked. o Pea flowers produce assured seed sets because they have cleistogamous flowers, which undergo natural self-pollination. o (v2) (vay 19. 20. Refer to text ‘Polygenic Inheritance, on page no, 94 and 95. ‘A geneticist needs to carry a test cross when he/she wants to determine the genotype o! organism, with a dominant phenotype trait, whether it is homozygous or heterozygous, Or Genotype of the dominant phenotype is determined by a test cross. In it, the F, progeny is crossed to its recessive parent. When F, progeny (heterozygous) crossed with dwarf plant, the monohybrid test cross ratio is 1: 1. But, all tall plants are obtained when both homozygous 21. parents are crossed. @ 22. The scientific name of fruittly is Drosophila ‘melanogaster. aa ‘TH Morgan preferred this organism for his study because of the following reasons (i) Thhas fast and short life cycle (ii) It has only four pairs of chromoson (iit) 1t reproduces quickly ay 23. 24. 25. Pleiotropy is the phenomenon in which a single gene exhibits multiple phenotypic expressions. The genes exhibiting pleiotropy are called pleiotropic genes. Pleiotropism occurs mainly because of mutation in a particular gene, e.g. phenylketonuria which is a disorder caused by mutation in the gene coding for the enzyme phenylalanine hydroxylase. In the absence of this enzyme, phenylalanine is not converted into tyrosine and accumulation of phenylalanine takes place. The affected individuai shows hair and skin pigmentation and mental problems. @ ‘The given condition represents the case of incomplete dominance. In snapdragon, the inheritance of flower colour shows incomplete dominance. Neither of the alleles of gene for flower colour is, completely dominant over the other and hybrid shows an intermediate phenotype. Therefore, f, phenotypic and genotypic ratios are same in a cross between red flowered snapdragon and white flowered snapdragon plants. o It can be explained with the help of a cross given below Red flower White flower AR v Parents Rx 1 Gametes | (®) Pink lower F;-generation ® ~« seting de Red Pink Pink — White Phenotypic - Genotypic RR Rr : w ratio 1 2 1m In human population, the phenomena of codominance and multiple allelism can be explained by the inheritance pattern of ABO blood groups which are controlled by three alleles, i. 1,18 and 1 (i) Codominance 1* andi" both are codominant as both of then express themselvesindependently in blood group AB (I4 1"). There 1g of the effects of two alleles and the expressed phenotype is the combination of two phenotypes. They do not follow Mendelian inheritance. o (ii) Multiple allelism In this phenomenon, genes exist in more than two allelic forms or combinations, For example, the gene for blood {group exists in three allelic forms 1,18 and i ‘These alleles are produced due to repeated mutation of the same gene in differei direction. They do not follow Mendelian pattern of inheritance. a 26. Linkage is the tendency of certain loci or alleles (genes) to be inherited together. While crossing over in the segregation of genes. The former helps: to preserve parental characters in offsprings whearas the latter produces new combination of characters, The genes on a chromosome either follow linkage path or crossing over to form the ‘gametes during gametogenesis in human. Therefore, linkage and crossing over of genes are alternatives of each other. @ 27. (i) Blending is the mixing of two colours, but in this example red and white colours appear independently at cellular level. Thus, no blending occurs, The red and white colours reappear in Fy-generation. o (ii) This phenomenon is known as incomplete dominance. o 28. (i) A Punnett square representing the cross given in the question is as follows (alt) (Over) Tt x tt Teh tot ¢ 1 ¢ Tt Tt t | a | caw T T * Liwar | Owart) o (ii) The type of cross carried out here is a test cross, in which an individual with an unknown dominant phenotype is crossed with a homozygous recessive for that trait. o 29. In humans, the ABO blood groups are controlled by a gene called gene ‘I’. It has three alleles, ic.1*, 1" and i, A person possesses any two of the three alleles. and1” are codominant and they both are dominant over i. These alleles help to determine the blood group of a person. The plasma membrane 30. 31. 32. 33, of red blood cells has sugar polymers that protrude out from its surface and the kind of sugar is regulated by the gene ‘I’ of ABO blood group. The alleles I* and I® produce enzymes that produce A and B types of sugar respectively ‘on the surface of red blood cells, while allele i does not produce any sugar. @ ‘The strength of linkage is higher in the cross A. than in cross B because linkage is higher when. tivo genes are present closely on the same chromosome than those genes which are far apart, In cross B, the chances of crossing over or recombination are higher because the genes are loosely linked. ary Cross of red flowered Antirrhimem with white flowered plant produces pink flowered plants. ‘This shows incomplete dominance o For cross, Refer to Answer No. 24. o ‘To know the genotype of tall pea plant, test cross is to be performed. Its the cross between F -hybrid and its recessive parent. For cross, Refer to Answer No. 28 (i). @ Differences between multiple allelism and pletotropy are Multiple allelism This occurs when one gene controls many traits This occurs when one trait is controlled by two allel €.g. ABO blood e.g. Phenylketonuria grouping (PKU). @ Tall plants may either have genotype TT of Tt. ‘Tyvo [all pea plants that produce some dwarf plants among their progenies must be heterozygous with the genotype Tt. Plants with ‘genotype TT cannot produce dwarf offspring as they lack the allele for dwarfness (t) and hence, cannot transfer it to the progeny. But, if both the parents are heterozygous tall (Tt), 25% of F, progeny would contain ‘t’ allele in homozygous (it) condition. 1t can be represented using Punnett square as follows tox T @Ina monohybrid cross, when a pureline tall plant is crossed with a pureline dwarf plant, following ratios are produced Pueia) — PUESNA Parerg ® TO cmuns ) ta Fy-generation { Setting Gametes Fe-generation Phenotypic ratio Tall © Dwarf 3 Genotypic ratio TT: Tt: tt pores o ‘The phenotypic ratio 3 1 represents that ath of Fy plants are tall, whereas 1/4th plants are dwarf, The genotypic ratio 2: 1 represents 1 true breeding dominant, 2 heterozygous dominant and 1 true breeding recessive progeny. o Or Two-third of tall progenies are heterozygous because gene for taliness (T) is dominant and also expresses itself in heterozygous condition. It is due to this reason that a difference is observed in F, phenotypic and genotypic ratio, Ina monohybrid cross, the phenotypic ratio of F,-generation is 3:1, whereas in dihybrid cross, the pheonotypic ratio of F;-generation is9:3:3:1 on The results obtained were due to the linkage. It is the phenomenon in which two or more linked genes are inherited together and their frequency of recombination in a test cross progeny is less than the expected 50%. In Morgan’s experiment on Drosophila, the genes for eye colour and body colour show linkage and do not allow crossing over during gamete formation. Henc parental type progeny is in greater ratio than that of recombinants 37, @ 38. 39. Refer to text on page no. 93 and 94. ‘Through any of the given ways chromosomal theory of inheritance and 40. (i) TH Morgan studied X-linked gen: a1. Al ficwers are violet (ROBITaTEN UrHrown lowers experimental results presented by Mendel can be compared (i) tn a diploid organism, the factors (genes) and chromosomes occur in pairs. Both chromosomes as well as genes segregate at the time of gamete formation such that only one of each pair is transmitted to a gamete ‘A gamete contains only one chromosome of a type and only one of the two alleles of a trait. The paired condition of both chromosomes as well as Mendelian factors is restored during fertilisation (Any three) iy @ in Drosophila and saw that when the two genes in a dihybrid cross were situated on the same chromosome, the proportion of parental gene combinations were much higher than the non-parental type. He attributed this due to the physical association or linkage 0: 0 genes on a chromosome and coined the term linkage. The term recombination describes the generation of non-parental gene combination in offsprings. 4) Alfred Sturtevant explained gene mapping by using the frequency of recombination between the gene pairs on the same chromosome as a measure of the distance between genes and he mapped their position on the chromosome. ‘Test Cross This is a method devised by Mendel to determine the genotype of an organism. In this cross, the organism with an unknown dominant genotype is crossed with the recessive parent, instead of self-crossing, For example, in a monohybrid cross, between violet colour flower (W) and white colour flower (w), the F,-hybrid was a violet colour flower. fall the F, progenies are of violet colour, then the dominant flower is homozygous and if the progenies are in 1: 1 ratio, then it is deciphered that dominant flower is heterozygous. (ii) (ray ww Dominant Phenotype (Genotype unknown) @ @ pig ~ sl Half of the flowers are violet and half of the flowers are white Unknown flower is heterozygous dominant. @ jomnazygous dominant42. We can find out the genotype of a plant by test cross by allowing it to cross with its recessive parent. The tall plant may be either homozygous or hetorozygous. Case 1 Tall (homozygous) pea plant with white flowers crossed with dwarf pea plant with white me —lfaae Pm ® ©] © Camm @® rah ite ate wale [wits al If plant produces all tall plants with white lowers as offspring, then genotype of plant is TTpp, i.e, homozygous ‘all plant with white flowers. Case II Tall (heterozygous) pea plant with white flowers is crossed with dwarf pea plant with white flowers. If plant produces both tall plant with white flowers and dwarf plant with white flowers, then genotype of plant is Tipp, ie. heterozygous tall pea plant with white flowers. Twp x tipp Parents, © © ome @_ | top | Tep ©} ral Wie | rat hte @O) vai® ttpp He) war, white | Dwarf, white o The following are the three reasons that led to delay in accepting Mendel’s work. {i) Lack of communication and less published work. o (ii) His concept of factors (genes) as discrete units which did not blend with each other was not accepted in the light of variations occurring continuously in nature. a (iii) Mendel’s approach to explain biological phenomenon with the help of mathematics was also not accepted. o 44, From monohybrid crosses, Mendel derived law of dominance and law of segregation. 45. 46. Refer to text on page no. 92 for detailed description of these laws. Test cross is a method devised by Mendel to determine the genotype of a plant with dominant phenotype (purple flower in this case). In a test cross, the unknown dominant genotype is crossed with recessive parent (white, WW in the given case) o (i) if the progeny consists of purple and white lowers in ratio of 1:1, the purple flower is a hybrid with PW genotype. It can be seen from the given cross. 3 Pw ww (Hybrid x (Pure Parents purple) white) ie (ii) if the progeny obtained have all purple flowers, both parents are homozygous, i.e. genotype of purple flower is PP. It can be seen from the cross that follows pp (Pup) * Parents ‘Al purple o Ina monohybrid test cross, heterozygous tall plant (Tt) and a pure dwarf plant ({t), the progeny consists of tall and dwarf plants in the ratio of I: 1. This can be shown as follows o (Hye tay (Pure var) Parents47, Codominance is the inheritance of a trait where two different dominant alleles of a trait express themselves simultaneously in the progeny. For example, ABO blood groups in human population. (i) Gene ‘T for blood group exhibits three allelic forms, ie.1*,T® and i. (ii) I and 1® produce RBC surface antigen A and B respectively, whereas i does not produce any antigen. (iii) I and 1° are codominant alleles, and they both are dominant over ‘i’ which is a recessive allele. (iv) In case I* and I® are present together, both express themselves equally and produice both surface antigen A and B. The resultant offspring is of ‘AB’ blood type. @ ‘48. Polygenic inheritance is an inheritance pattern controlled by three or more genes (multiple genes) and the graded phenotypes are due to the additive or cumulative effect of all the different genes of the trait, e.g. skin colour in human population shows variation. Skin colour in humans is produced by a pigment called melanin. The quantity of melanin is due to three pairs of polygenes (A, B and C). If a black or very dark (AA BB CC) and white or very light (aa bb cc) individuals marry each other, the offsprings or individuals of F -generation show intermediate colour and they are often called mulatto (Aa Bb Cc) A total of eight allele combinations are possible in the gametes forming 27 distinct genotypes distributed into 7 phenotypes, ie. 1 very dark, 6 dark, 15 fairly dark, 20 intermediate, 15 fairly light and I very light @ Morgan’s studies on Drosophila were based on the ‘genes that were located on the X-chromosome. He found when the two genes in a dihybrid cross ‘were situated on the same chromosome, the proportion of parental gene combinations were much higher than the non-parental type. Morgan. stated this association as linkage to describe the physical association of genes on a chromosome. Recombination is a term used to describe the generation of non-parental gene combination. ‘Morgan also found that some genes were tightly linked (low recombination) and others were loosely linked (high recombination). He concluded that in case of inheritance of linked genes, the phenotypic ratio deviates from expected 93:3: 1 ratio of Mendel’s dihybrid cross. To prove his findings, Morgan hybridised yellow-bodied and white-eyed females with brown-bodied and red-eyed males (wild type) and intercrossed their F,-progeny (cross A). It was observed that the two genes did not segregate independently for each other and the F,-ratio deviated significantly from 9: 3 : 3 : 1 ratio. In F,-generation, parental combinations were 98.7% and the recombinants were 1.3%. In another cross (cross B), between white-bodied female fly with miniature wing and a male fly with yellow body and normal wing, parental combinations were 62.8% and recombinants were 37.2% in F,-generation. Thus, it was proved from the crosses that the linkage between genes for yellow body and white eyes was stronger than the linkage between the white body and miniature wing. a 50. (i) In a monohybrid cross in pea plant, Mendel found that only dominant trait expresses itself in offspring no matter it is whether present in homozygous state (TT) or in heterozygous state (Tt). Dominant trait does not require another similar allele to produce its effect on the phenotype, in fact it has the ability to mask the effect of recessive allele. Based on this observation, Mendel proposed the law of dominance. a (ii) Since, the characters are controlled by genes which occur in pair, when two alternate forms of a trait or character (genes or alleles) are present in an organism, only one factor expresses itself in F,-generation. This factor is dominant, while the other factor that remains masked by the dominant factor is called as. recessive.The recessive allele is unable to express itself ina heterozygous state because it forms an incomplete or defective polypeptide or enzyme, so its expression does not contain any effect. In contrast, dominant allele can form complete polypeptide or enzyme to express its effect. (1%) 51. In pea plants, the colour of the flower is either violet or white because the colour is purely dependent on two alleles and the crossing between them, i.e. violet and white in the parents generation, which results in F,-generation. Thus, the resultant offsprings are cither violet or white coloured. Hence, the inheritance pattern of flower colour in pea plant follows the law of dominance. o But in case of humans, skin colour is produced by polygenes. Such inheritance is controlled by one ‘or more genes in which dominant alleles have cumulative effect with each dominant allele expressing a part of the trait. The full trait is shown only when all the dominant alleles are present together. a The quantity of human skin pigment melanin determines the buman skin colour (i.e. very dark, dark, fairly dark, intermediate, fairly light, light and very light). Refer to Answer No, 48. o 52. (i) Refer to Answer No. 25. a (ii) Phenotypes of given blood genotypes arc as follows (ay i — (b) i oO 53, (Purple tower) (White flower) (Homozygous) (Pure breeding or Homozygous) PP x PP G5) We ficereratonnave Purple tower ll Purple flowers, soit is dominant Za™N r (Golfing of F,) FP ©®© OO camotes P P pl, PP Pp (Purple tower | Pupletowen | 5 seneration pl Pp PP (Purple ower) | (White flower) Purple flowered plants : White flowered plants are in the ratio of 482 : 162 which is approximately equal to 3 : 1. @ ‘The genetic mechanism for these results is explained below (i) Factors segregate from each other during gamete formation that remain together in a parent. {ii) A homozygous parent produces all gametes that are similar, while heterozyogous parent produces two kinds of gametes in equal ratio. o 54, For cross, Refer to Answer No. 24. o In F,-generation Pink flowered plants obtained. Itis due to incomplete dominance. o In F generation Allcles of the hybrid ) segregate during gamete formation and the parental characters reappear without any change. So, the phenotypic and genotypic ratios in F,-generation are same. RR Rr n 1 2 1 o 55. (i) (a) 1: 2: 1 (in Fy-generation) is the phenotypic ratio of incomplete dominance. Refer to figure 5.3 on page no. 93. (b) 3:1 (in Fy-generation) is the phenotypic ratio of monohybrid cross. Refer to figure 5.1 on page no. 91 (c) 1:1 (in F,-generation) is the phenotypic ratio of test cross, Refer to text and figure of “Test cross’ on page no. 91 and 92 oA ({i) Differences between pleiotropy and polygenic inheritance are as follows Polygenic arr inheritance Single gene product Single phenotypic confers many effect is under the physiological effects. control of many ‘The genes involved are called pleiotropic genes. The genes involved are called eg. human skin colour. e.g. phenylketonuria.‘56. Differences between codominance and the physical association or linkage of the two \complete dominance are as follows genes. To describe this physical association of ~ gene, he coined the term linkage. Codominance Incomplete Recombination term was used to describe the _ — generation of non-parental gene Itis the appearance It is the appearance of combinations. In his experiments, he of both parental an intermediate observed that even when genes were grouped phenotypes together phenotype, which is a on the same chromosome, some genes were in the offspring combination of both very tightly linked and showed very low when a cross is done parental alleles when a recombination. On the other hand, loosely between individuals cross is done between linked genes showed higher recombination.(3) with two different individuals with wo (ii) Sturtevant, a student of Morgan, used the phenotypes. ___different phenotypes, frequency of recombination between the gene Both parental alleles Effect of the wo pairs on the same chromosomes as a measure produce their effect’ parental alleles is of the distance between genes. He mapped the independently intermediate on the position of genes on the chromosome by using offspring, this information. @ Both parental alleles __ None of parental 58. Law of Independent Assortment (Third law) can be observed in _isliciesatibe obSHEa is based on the inheritance of two genes, ic. tiie offspring, in the offspring. dihybrid cross which states that when two pairs of contrasting traits are combined in a hybrid, Examples include Examples include a 5 an -gregation of one pair of characters is ‘ABO blood group, inheritance of flower i 1 pair of characters. etc. Six different colour in the bn oT ai genotypes of human dogflower, etc. Here, oO g ‘ABO blood group —_the genotypic ratio of eae Ps croeri show four F, remains same as ore Mirae F287) p.generation phenotypes-A, B, AB Mendel's monohybrid | 1 and O. cross, ie. 1: 2:1, but ee @ bo @ canes changes from 3:1 to Ow 2 (Round yellow) Rrvy F,-generation 6 | setting 57. (i) Thomas Hunt Morgan and his colleagues a worked on Drosophila melanogaster. Gametes Relation between Linkage and Recombination Morgan carried out dihybrid crosses in Drosophila to study sex-linked genes. Morgan hybridised yellow-bodied, white-eyed females to brown-bodied, red-eyed males. He intercrossed their ,- progeny. It was observed that the two genes did not segregate independently of each other. The F, ratio deviated from the ratio of 9: 3: 3:1 It was known to Morgan and his colleagues that genes were located on X-chromosomes. ‘They noticed that when the two genes in a dihybrid cross were situated on the same Phenotypic ratio Round yellow : Round green chromosome, the proportion of parental 9 3 combination was very high in comparison to Wrinkled yellow Wrinkied green non-parental type. He attributed this due to 3 1 Fa-generation‘These factors randomly rearrange in the offspring. producing both parental and new combination of characters. It means inheritance of one character does not affect the inheritance of another character and both characters assort independently during gamete formation. The Punnett square can be used to understand the independent segregation of the two pairs of genes during meiosis © 59. (i) Polygenic Inheritance It was proposed by Galton in 1833 and he suggested that many instances of continuous variations are heritable. In this case, a trait is controlled by three or more genes and the graded phenotypes develop due to the additive or cumulative effect of all the different genes of the trait, e.g. human skin colour, height, intelligence ete. Polygene is a gene where one dominant allele controls only a unit or partial quantitative expression of a tra White Black Parents aabbcc = «X= AABBCC (very light) (very dark) Gon GD Gametes ‘AaBbCe Intermediate F,-generation It also takes into account the influence of environment and is also called as quantitative inheritance, as the character or phenotype can be quantified, like the amount of pigment, intelligence in human beings and milk yield in animals. These characters have been found to be determined by many genes and their effects have beet cumulative. These traits are called polygenic traits, e.g. human skin colour explains the phenomenon of polygenic inheritance. Skin colour in human is produced by a pigment called melanin, The quantity of melanin is due to three pairs of polygenes (A, B and C). If black or very dark (AABBCC) and white or very light (aabbcc) individuals marry each other, the offsprings or individuals of generation show intermediate colour which are often called mulatto (AaBbCc) A total of eight allele combinations are possible in the gametes forming 27 distinct genotypes distributed into 7 phenotypes. i. very dark, 6 dark, 15 fairly dark, 20 intermediate, 15 fairly light, 6 light and 1 very light. @ (ii) In pletotropy, single gene product may produce multiple or more than one phenotypic effect whereas in polygenic inheritance single phenotypic trait (human skin colour) is controlled by 3 pairs of genes (A, B and C). In ‘Mendelian inheritance, one gene controls one phenotypic character (flower colour red or white). However, in polygenic inheritnace one phenotype is controlled by more than one gene. @ 60. (i) Parents must be heterozygous since blood group ‘O’ appears in progeny. The progeny ‘can have all the four blood groups, A, B, AB and 0. There are three alleles of the gene controlling blood group character, ic. 1*, Tand i.1* and1® are dominant over i and together they are codominant to each other. (Man) (Woman) Parents aw x 18) Genotype Gametes ii Genotype AB A 8 (© Blood group (a) (ii) ABO blood grouping in humans shows the phenomenon of codominance. Refer to Answer No. 29 and 47. @ 61. (i) Law of segregation states that the factors or alleles of a pair segregate from each other during gamete formation in a way that a gamete receives only one of the two factors. They do not show any blending. The pattern of inheritance can be understood by crossing F,-hybrid (Tt heterozygous) of a tall plant with a dwarf plant. Here, hybrid tall makes two types of gametes (1) and (t), while pure dwarf makes only one type of gamete, ic. (1), It is because only one allele can enter in a gamete for a character. (2) Hybrid tal Pure dwart @® @ Parent | | OO © Game (ii) (a) Mendelian F, phenotypic ratio in a dihybrid cross is 9: 3:3: 1. o (b) Law of independent assortment was proposed on the basis of dihybrid cross. It states that when two pairs of contrasting traits are combined in a hybrid, segregation of one pairof characters is independent of the other pair of characters. a Differences between law of segregation and law of independent assortment are Law of independent assortment Law of segregation Its based on the dibybrid cross. It is based on the monohybrid cross. It explains non-mixing of two alleles of a gene at the time of gamete formation. It explains non-mixing of characters during their inheritance to the next generation. o 62, The cross given in the question is a dihybrid cross, which explains the third law of Mendel, ic. law of independent assortment. In a dihybrid cross inheritance pattern of two traits are considered simultaneously. This law states that when two paits of traits are combined in a hybrid, segregation of one pair of character is independent of the other pair of characters at the time of gamete formation. The alleles controlling these characters also get randomly rearranged in the offspring producing both parental and new combinations of characters @ Parents Tall plant Dwarf plant Round seeds Wrinkled seeds TTRR x tir Gametes ee F, progeny TtRr Selfing TR x THR F,-generation [S@]TA [7 [IR [ir TR [TAR] Tre [rina | Te Te free | te [Te [Toe tr [rae [nar [ann [ere tr [rar [rer [rar [rr Phenotypic ratio 9:3: 3: 1 The ratio 9 : 3:3: 1 was obtained because the factors of height of plant and those for shape of seeds have segregated independently and each gamete has one factor for each of these two traits. @ 63. (i) Riyy x my (Heterozygous (Wrinkles ana round and yellow) green seeds) ela pe Tax ty 2 | ry | RrYy | Bry | myy | my Phenotypic ratio 1 1 1 1 Genoypicraio 94 1s ts 1 (ii) Phenotypic ratio Round yellow : Round green : Wrinkled yellow : Wrinkled green Sbsletet Genotypic ratio 1:1: 1:1 o (iit) This cross is known as dihybrid test cross. The purpose of this cross is to determine the relationship between different allelic pairs. (2) 64. Refer to Answer No. 53 for cross showing inheritance pattern of flower colour in garden pea plant, Phenotypic ratio Purple : White 3 Genotypic ratio PP: Pp: pp 1:2:1 Inheritance of flower colour in garden pea shows true dominance. In F,-generation, dominant colour purple is expressed and in F,-genetation, both dominant (purple) and recessive (white) colours are expressed in the ratio of 3:1. (2%) Inheritance pattern of flower colour in Antitrhium (snapdragon), Refer to Answer No. 24 Inheritance in snapdragon flower colour shows incomplete dominance. In this phenomenén, neither of the two alleles is completely dominant over the other and the hybrid is intermediate between the two. Hence, red is homozygous dominant, white is homozygous recessive, while hybrid is intermediate, i. pink. om Codominance Both the alternative forms of a gene can produce effect in heterozygous condition, e.g. ABO blood grouping in humans. Out of the two contrasting alleles of a gene, only one can produce effect in heterozygous condition, e.g. trait of tallness in pea plants. a (ii) Refer to Answer No. 47 @66, (i) Refer to Answer No. 58 o (ii) Morgan found that linkage is an exception to the law of independent assortment. Conclusion of Morgan’s studies, Refer to Answer No. 49. @ 67. The starch synthesis in pea plants is controlled by a single gene. It has two alleles B and b. BB homozygotes produce large starch grains as compared to that produced by bb homozygotes. After maturation, it was observed that BB seeds were round and bb were wrinkled. When they were crossed, the resultant progeny have intermediate sized (Bb) seeds, The cross involved is @ 88 =X bb Pageneration Bb Setiing tion | Sin? Fr-generatior 8B | 8b Be Tbe | Frgeneration Phenotypic ratio is, 2d Large : Inter : Wrinkled mediate 2 Deviation from Mendel's law of dominance If starch grain size is considered as the phenotype, then, the alleles show incomplete dominance. Thus, dominance is not an autonomous feature ofa gene, it depends on gene product and production of particular phenotype from this product o 68. (i) Differences between polygenic inheritance and pleiotropy are as follows Polygenic inheritance Pleiotropy Single phenotypic Single gene effect is under the product confers control of many many phenotypic genes. __ effects. The genes involved — The genes are called involved are called polygenes. eg. pleiotropic genes, human skin colour. eg. hhenylketonuria. (ii) Differences between dominance, codominance and incomplete dominance are as follows Dominance Codominance _ [peomplete Itisa Ttis the [tis also, relationship, phenomenon of — known as between expression of partial or alleles of a both the alleles mosaic single gene, in in heterozygous dominance which one condition, In where none of allele masks this, alleles do. the two the phenotypic not show contrasting expression of dominant. alleles or another allele recessive faciorsis atthe same reationshipand dominant, eg. genelocus, are able to incomplete eg. tallness in express dominance in pea plant. themselves 4'O' clock independently, _ plant. €.g. ABO blood soup in a 69. (i) Inhumans, the ABO blood groups are controlled by a gene called 'Y’ 1 has three alleles. These are 1 and o Table showing the genetic basic of blood groups in human population Refer to Answer No. 47. @ (ii) (a) No, its not necessary as mother could have a genotype I*I* ori, If the genotype is 1° 1°, all the offsprings would have A blood group, but in the second case, offsprings can have cither ‘A’ or ‘O' blood group as their father has ‘0’ blood group. o (b) Yes, if the mother is of genotype I*i and father is “O' (genotype ii), blood group of some children can be ‘O’ and some can be ‘A’ o 70. (i) In a monohybrid cross, when homozygous dominant and homozygous recessive parents are ‘tossed, F, -hybrid would be heterozygous for the trait and would express the dominant allele. (olow seed) (Green seed) Parents YY x OW Y Y) Gametes (inivotow seeds) F,-generation On sting y_dorsetng, YY YW Y | tretiow seed) | (ellow’seed) Fy-generation @ Ww (Yellow’seec) (Green seed)(ii) The laws of inheritance that can be derived from such a cross are {a) Law of dominance (b) Law of segregation o (iii) Phenotypic ratio in F,-generation. In monohybrid cross — 3: 1 In dihybrid cross —9:3:3:1 @ 71. (i) The test cross ratio is 1: | Violet flowers White flowers (Hybrid) (Recessive) ® x @ Test cross QO, OG owners vw | ww wef ww | ww 50% flowers are violet. The dominant plant is, heterozygous, i.e. Vw. On crossing with white flowers, 50% dominant violet colour is expressed. (ii) Type of crossTest cross, Significance The cross is used to determine the genotype of the unknown dominant parent o (iii) In this test cross, violet and pure white flowers when crossed produce violet and white flowers, Whereas in snapdragon, the f,-generation hybrid was pink coloured. &,-generation consists of red, pink and white flowers in the ratio of I red = 2 pink : 1 white. This is due to incomplete dominance. Similar type of cross can be made for plants with green and yellow pods. @ @ [TOPIC 2] Sex-Determination and Genetic Disorders 2.1Mechanism of Sex-Determination (i) The establishment of sex through differential development in an individual at the time of zygote formation is called sex-determination. (ii) Henking (1891) traced a specific nuclear structure all through spermatogenesis in few insects. (a) He observed that 50% of sperms received this specific structure after spermatogenesis, whereas the other 50% sperms did not receive it. (b) He named this structure as X-body. Scientists further explained this X-body as X-chromosome. (iii) There are different types of sex-determination mechanisms observed in various organisms. These mechanisms are mainly dependent on whether the parents are homogametic, ic. with similar gametes or heterogametic, i.e, with different type of gametes. Some of these mechanisins are as follows (a) XO type and XY type of sex-determination shows the-example of male heterogamety because in both cases, males produce two different types of gametes + Either with or without X-chromosome. + Some gametes with X-chromosome and some with Y-chromosome. + XO type sex-determination is found in a large number of insects, e.g. grasshopper, etc. It includes homogametic females and heterogametic males. + In this type, all the ova bear a pair of X-chromosome, while sperms bear only one X-chromosome along with the other chromosomes (autosomes)+ Eggs fertilised by sperms having an X-chromosome become fernales and those fertilised by sperms that do not contain X-chromosome become males. + Due to the involvement of the X-chromosome in sex-determination, it was named as sex chromosome and rest chromosomes were named as autosomes. + XY type of sex-determination is found in many insects like Drosophila melanogaster and in mammals including man. This type of sex-determination includes homogametic female and heterogametic males. + In males, an X-chromosome is present along with another chromosome, which is very small and called as Y-chromosome. + Females have a pair of X-chromosomes. + Both males and females bear same number of autosomes. The males have autosomes along with XY and females have autosomes along with XX-chromosomes. So, male is responsible for the determination of the sex of the child. (b) ZW type and ZO type of sex-determination shows the example of female heterogamety. + ZW type of sex-determination is found in certain birds, fowls and fishes. + Females have Z and W-chromosomes along with autosomes and the males have a pair of Z-chromosomes. * In this type, sex is determined by the type of ovum that is fertilised to produce offspring. + ZO type of sex-determination is seen in butterflies and moths. In this type, the female have only one Z-chromosome, while the male have a pair of Z-chromosomes. om © Q@ ® Sex-Determination in Humans (i) In humans, 23 pairs of chromosomes are present, out of which 22 pairs are exactly same in both males and females. These are known as autosomes. (if) A pair of X-chromosome (XX) is present in females, whereas one X and one Y-chromosome (XY) is present in males, (iii) In males, during spermatogenesis, two types of gametes are produced, i.e; 50% of the total sperins carry the X-chromosomes, while the rest 50% carry Y-chromosomes besides autosomes. (iv) Females produce only one type of ovum with an X-chromosome. (v) Incase, the ovum gets fertilised with a sperm carrying X-chromosome, the zygote develops into a female (XX) and if ovum gets fertilised with Y-chromosome carrying sperm, the zygote develops into a male (XY). (Male) XY x XX (Female) (®) ove << | =< SN xX xX XY XY (Female) (Female) (Male) (Male) Figure 6.6 Sex-determination in human beings (vi) Hence, the genetic make up of sperm, which fertilises the ovum, determines the sex of a child. (vif) There are 50% chances of having male and 50% chances of having female in each pregnancy. So, woman should not be blamed for the sex of a child.Sex-Determination in Honeybee (i) Itis known as haplo-diploidy method in which an unfertilised egg develops into a male (Arrhenotoky), while fertilised egg develops into female. (i?) This type of sex-determination is also seen in certain insects like honeybees, ants, etc. 2.2 Mutation Itis a phenomenon which causes alteration of DNA sequences resulting in changes in the genotype and the phenotype of an organism. It leads to variation in DNA in addition to recombination. (i) Loss (deletion) or gain (insertion/ duplication) of a segment of DNA, results in alteration in chromosomes. As genes are located on chromosomes, alteration in chromosomes results in abnormalities. ‘These are known as chromosomal alterations, which are common in cancer cells. (ii) Mutations also occur due to the change in a single base pair of DNA. These are called point mutations, e.g. sickle-cell anaemia (i) Deletions and insertions of base pairs of DNA, causes frameshift mutations. (iv) There are many physical and chemical factors that induce mutation, which are called mutagens, e.g. UV radiation is a mutagen. 2.3 Pedigree Analysis Itis an analysis of traits in several generations of a family. In this analysis, the inheritance of a particular trait is represented in the family tree over generations. (i) Pedigree study provides a strong tool in human genetics, which is utilised to trace the inheritance of a specific trait, abnormality or disease. (ii) Pedigree analysis is performed for human population because Mendel’s monohybrid and dihybrid cross with purelines are not possible in human. (iti) The symbols used in pedigree analysis are given below OO Male OO Femae <> Sexunspeciied TOS Atecod ndvcuals CHO Mating Mating between relatives DO Geonsanguineous mating) Sy e © 2.4 Genetic Disorders A number of disorders in human beings are associated with the inheritance of changed or altered genes or chromosomes. These are called genetic disorders. These can be divided into following types Parents above and children below {in order of birth-left to right) Parents with male child affected with disease Five unaffected offsprings Mendelian Disorders ‘These are mainly determined by the alteration or mutation in the single gene. Here, chromosome number and their structure do not change. These disorders are transmitted in next generation according to the principle of inheritance and can be studied through pedigree analysis. They may be dominant or recessive. It means Mendelian disorders are inherited according to Mendel’ law of inheritance. Some common Mendelian disorders are as follows Haemophilia Itis a sex-linked recessive disease, which is transmitted from an unaffected carrier female to some of the male offsprings. * In this disease, a single protein that is a part of cascade of proteins involved in the clotting of blood is affected.* Due to this, in an affected individual, a small cut results in non-stop bleeding * The heterozygous female (carrier) may transmit the disease to sons. The possibility of a female becoming haemophilic is extremely rare because mother of such a female offspring has to be at least carrier and father should be haemophil In haemophilia, male is never a carrier because it is a X-linked recessive disease and male has only one X-chromosome. So, even a single allele will make a male haemophilic. ‘+ The family pedigree of queen Victoria shows a number of haemophilic descendents as she was a carrier of the disease. Colour Blindness It is a recessive sex-linked trait in which eyes fail to distinguish red and green colours. * The recessive allele is carried on X-chromosomes. + In female, it appears only when both the sex chromosomes carry the gene (X°X* ). + The females function as carriers in the presence of a single recessive gene (XX°). + Inmales, the defect may appear in the presence ofa single recessive gene (X°Y) because Y-chromosome does not carry any gene for colour vision. + Haemophilia and colour blindness show. criss-cross inheritance pattern, in which inheritance of sex-linked characters is transmitted from father to daughter or from mother to son. Sickle-Cell Anaemia tis an autosomal-linked recessive trait that can be transmitted from parents to the offspring when both the partners are carrier for the gene (heterozygous). In this disorder due to a point mutation, abnormal haemoglobin is produced, which leads to sickle-shaped RBC. This RBC shape gets is destroyed hence, person becomes anaemic. * This disease is controlled by a single pair of allele, Hb“ and Hb°. Hb* codes for normal haemoglobin, while Hb* codes for sickle-cell haemoglobin. * Only homozygous individuals for Hb* (HbSHb*) show the diseased phenotype. * Heterozygous (Hb“HD') individuals appear unaffected, but they are cartier of the disease as there is 50% chances of transmission of the mutant gene to the progeny leading to sickle-cell trait. * Itis caused by the substitution of Glutamic acid (Glu) by Valine at the sixth position of the f-globin chain of the haemoglobin molecule due to single base substitution 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. The inheritance of sickle-cell anaemia is shown in the cross given below Carrier male x Carrier female HbA HbS HbA HS Mating HbA Hbs HbA HbA HbA HbA Hbs Hbs HbA HbS: Hbs HbS- Hos HA Normal Hb’ HbS- Carrier HbS HbS - Sickle-cell anaemia affected Thalassemia It is an autosomal-linked recessive disease, which ‘occurs due to either mutation or deletion of genes, resulting in reduced rate of synthesis of one of the globin chains of haemoglobin. + Haemoglobin consists of an a. and a B-protein. If body does not produce enough of either of these two proteins, the RBCs do not form properly and cannot carty sufficient oxygen. + Anaemia is the main feature of this disease.Phenylketonuria Itis an inborn error of metabolism, which is inherited as an autosomal recessive trait. * The disease is caused due to the deficiency of an enzyme phenylalanine hydroxylase that converts the amino acid phenylalanine into tyrosine. In the deficiency of this enzyme, phenylalanine is not converted into tyrosine. + The phenylalanine is accumulated and gets, converted into phenyl-pyruvic acid and other derivatives, + Their accumulation in brain results in mental retardation. + Itis also excreted through urine because of its poor absorption by kidney. Chromosomal Disorders These are caused by the absence or excess or abnormal arrangement of one or more chromosomes. These disorders do not follow ‘Mendel’s law of inheritance. All these chromosomal disorders can be easily studied via the analysis of karyotype. i.c. an organised profile of an individual's chromosomes according to their shape, size and number. Causes of Chromosomal Disorders + Failure of segregation of chromatids during cell division resulting in the gain or loss of chromosome(s) is called aneuploidy, c.g. Down’s syndrome. + Failure of cytokinesis after telophase stage resulting in an increase in the whole set of chromosomes is called polyploidy. 11 is often seen in plants. Some examples of chromosomal disorders are as follows Down's Syndrome It occurs due to the presence of an additional copy of the chromosome number 21. This condition is called trisomy of 21. So, it is an example of autosomal trisomy. Here, total number of chromosomes becomes 47 as there is an extra copy of chromosome number 21 + The disorder was first described by Langdon Down (1866). * Affected individuals are short statured with small round head, furrowed tongue and partially open mouth. + Palm is broad with characteristic palm crease. * Physical, psychomotor and mental development is retarded. Turner's Syndrome Itis a disorder caused due to the absence of one X-chromosome. In this case, the number of chromosomes is 45 with XO genotype. So, it is an example of sex chromosomal monosomy. It is, represented as (21-1). * The affected females are sterile as ovaries are rudimentary. + Other symptoms include lack of secondary sexual characters, short stature, etc in females, Klinefelter's Syndrome It is caused due to the presence of an addit of X-chromosome (XXY), resulting into 47 chromosomes. So, it is an example of trisomy of sex chromosome. It is represented as Qn +1). + Male individuals have masculine development, but feminine characters (development of breast, ic. gynaecomastia) also occurs. * The individuals are sterile. onal copyPREVIOUS YEARS’ EXAMINATION QUESTIONS TOPIC 2 (@1Mark Questions 1. Write the sex of a human having XXY chromosomes with 22 pairs of autosomes. Name the disorder this human suffers from. 2016c 2. State the fate of a pair of autosome during gamete formation. pethi 207 Give an example of a human disorder that is caused due toa single gene mutation. Delhi 2016 4, Give an example of a sex-linked recessive disorder in humans. belhi2o6c 5. Give an example of an organism that exhibits haplo-diploidy sex-determination system. Delhi 2016¢ 6. Give one example of organism exhibiting female heterogamety. Outside Delhi 2016¢ Or Write the chromosomal basis of sex-determination in birds. Dethi 2016¢ Or Explain the mechanism of sex-determination in birds. Dethi 2015 7. Identify the correct statement (i) Females of many birds have a pair of dissimilar ZW-chromosomes, while the males possess a pair of similar Zd-chromosomes. (ii) Females of many birds have a pair of similar ZZ-chromosomes, while the males possess a pair of dissimilar ZW-chromosomes. all india 20146 8, Identify and write the correct statement (i) In grasshopper males, two sex chromosomes are X and Y type. Gi) In grasshopper males, there exist XO type of sex-determinants. all india 20140 9. Identify and write the correct statement (i) Drosophila male has one X and one Y-chromosome. (ii) Drosophila male has two X-chromosomes. all India 20140 10. Why do normal red blood cells become elongated and sickle-shaped in structure in a person suffering from sickle-cell anaemia? Foreign 2014 11. Name one autosomal dominant and one autosomal recessive Mendelian disorder in humans. allindia 2010 12. Write the genotype of (i) an individual who is the carrier of sickle-cell anaemia gene, but apparently unaffected and (i) an individual affected with the disease. All india 2010 43. A human being suffering from Down's syndrome shows trisomy of 21st chromosome. Mention the cause of this chromosomal abnormality. allindio 2010 Or Write the cause of Down's syndrome in humans, allindia 2010¢ 44, The son of a haemophilic man may not get this genetic disorder. Mention the reason. Delhi 2ovoe @ 2 Marks Questions 45. Write the genotypes of the parents of a child suffering from thalassemia. State the cause of this disease. all india 2013 46. Name a disorder a human suffers from as a result of monosomy of the sex chromosome. Give the karyotype and write the symptoms. All india 2019 17. A haemophilic father can never pass the gene for haemophilia to his son. Explain. 2018 Or A cross between a normal couple resulted in a son who was haemophilic and a normal daughter. In course of time, when the daughter was married to a normal