Genetics Multiple Choice Questions
Genetics Multiple Choice Questions
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MULTIPLE CHOICE TYPE QUESTIONS
01. Pair of contrasting characters controlling the same trait is called :
(a) Factors (b) Alleles (c) Alloloci (d) Paramorphs
02. The term "allelomorphic" implies :
(a) Any two characters (b) Sex-lonked characters
(c) A pair of contrasting characters (d) A pair of non-contrasting characters
03. Law of segregation is also called law of :
(a) Probability (b) Purity of gametes
(c) Punnett hypothesis (d) Independence of gametes
04. If two alleles come together, only one is able to express itself. This is called :
(a) Law of dominance (b) Law of segregation
(c) Law of incomplete dominance (d) Law of independent assortment
05. In a back cross, a F1 hybrid is crossed with dominant parent, the offsprings :
(a) All will the tall (b) 3 tall : 1 short (c) 1 tall : 1 short (d) 1 tall : 3 short
06. Heterozygous tall plant (Tt) is crossed with homozygous dwarf (tt) plant. Then what will be the percent-
age of dwarf plants in the next generation ?
(a) 25% (b) 100% (c) 0% (d) 50%
07. Test cross is a cross between :
(a) Hybrid × recessive parent (b) Hybrid × dominant parent
(c) Hybrid × hybrid parent (d) Two distantly related species
08. Genotypic ratio of dihybrid cross is :
(a) 1 : 2 : 2 : 4 : 3 : 1 : 2 : 1 (b) 1 : 3 : 2 : 4 : 2 : 1 : 2 : 1 : 2
(c) 1 : 2 : 2 : 4 : 2 : 1 : 2 : 1 : 1 (d) 1 : 2 : 2 : 4 : 2 : 2 : 2 : 1
09. In Mendelism, linkage was not observed due to :
(a) Synapsis (b) Mutation (c) Crossing over (d) Independent assortment
10. Which one of the following demonstrates the "law of independent assortment ?
(a) Test cross (b) Back cross (c) Trihybrid cross (d) Monohybrid cross
11. Independent assortment of genes does not take place when :
(a) Genes are located on homologous chromosome
(b) Genes are linked and located on the same chromosome
(c) Genes are located on nonhomologous chromosome
(d) All of the above
12. Law of Mendel which is not completely applicable is :
(a) Co-dominance (b) Law of dominance (c) Law of segregation(d) Law of independent assortment
13. Mendel’s law of independent assortment is applicable for :
(a) All linked genes only (b) All genes in all organism
(c) All genes of pea plant only (d) All non-linked genes only
14. When closely placed genes on the same chromosome are inherited together the phenomenon is known
as :
(a) Linkage (b) Crossing over (c) Gene interaction (d) Multiple allelism
( 44 )
07. Sex linked character and Autosomal character
08. Euploidy and Aneuploidy
09. Autosome and Sex chromosomes or Allosomes
10. Heteromorphic and Homomorphic sex chromosomes
11. Autosomal genes/traits and Allosomal/Sex linked genes/traits
12. Complete linkage and Incomplete linkage
13. Monohybrid cross and Reciprocal cross
14. Autosomal disorders and Sex chromosomal disorders
15. Autosomal characters and Sex-linked characters
16. Klinefelter’s syndrome & Turner’s syndrome
17. Gene related disorders and Chromosomal disorders
18. Normal -polypeptide of haemoglobin and Sickle cell -polypeptide chain of haemoglobin
19. Haemophilia A and Haemophilia B
20. Monosomy syndrome and Trisomy syndrome
21. Restriction endonuclease and Ligase
22. Deletion & Duplication
23. Paracentric and Paricentric inversion
24. Monoploidy and Haploidy
25. XY type and ZO type of sex determination
26. XO type and ZO type of sex determination
27. X-linked inheritance and Y-linked inheritance
LONG QUESTIONS
( 43 )
114. A child has blood group O. If the father has A blood group and mother has B blood group. Work out the
genotypes of the parents and the possible genotypes of the other offsprings.
115. Write short notes on sex-influenced genes.
116. Write short notes on reciprocal cross.
117. Graphic representation in phenotypic ratio of offspring when a colourblind woman marries normal man.
118. Give two reasons for Mendel’s success.
119. State three factors influencing crossing over.
120. Why male individuals are victims of haemophilia not female ?
121. What chromosomal abnormality is observed in patient suffering from Klinfeltor’s syndrome ?
122. State the results of marriage between a haemophilic carrier female and a haemophilic male person.
123. Mention the advantages of selecting pea plant for experiment by Mendel.
124. Using a punnet square, workout the distribution of phenotypic features in the first filial generation after
a cross between a homozygous female and heterozygous male for a single locus.
125. Two heterozygous parents are crossed. If the two loci are linked what would be the distribution of
phenotypic features in F1 generation for a dihybrid cross ?
126. When a cross is made between tall plant with yellow seeds (TtYy) and tall plant with green seeds (Ttyy),
what proportions of phenotype in the offspring could be expected to be (a) tall and green (b) dwarf and
green ?
127. Name two autosomal disorders and explain symptoms one of them.
128. What is a test cross ? How does it differ from a reciprocal cross ?
129. Under which condition, does the law of independent assortment hold good and why ?
130. The human male never passes on the gene for haemophila to his son. Why ?
131. A mother with blood group O has a foetus with blood group B. Will there be any problems in the mother
or foetus ? If so, specify the problem.
132. A man with blood group A married a women with B group. They have a son with AB group and a
daughter with blood group O. Workout the cross and show the possibility of such inheritance.
133. The male fruit fly and femal fowl are heterogametic while the female fruit fly and the male fowl are
homogametic. Why are they called so ?
134. A woman with blood group O married with a man with AB group. Show the possible blood groups of the
progeny. List the alleles involved in this inheritance.
135. In our society a women is often blamed for not bearing a male child. Do you think it is right ? Justify.
136. Make a list of the 7 pairs of contrasting traits selected by Mendel for breeding experiments.
137. Point out the reasons for Mendel’s success.
138. Give the purpose and results of a test cross.
139. What are the various causes of human genetic disorders ?
140. Why is the possibility of a human female becoming haemophilic extremely rare.
DISTINGUISH BETWEEN
01. Dominant genes and Recessive genes
02. Homozygous and Heterozygous individuals
03. Back Cross and Test Cross
04. Phenotype and Genotype
05. Monohybrid cross and Dihybrid cross
06. Linkage and Crossing over
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77. Explain normal and abnormal -polypeptide chains of haemoglobin.
78. Explain an euploidic autosomal and sex chromosomal abnormalities with example.
79. What is a syndrome ? Explain with an example.
80. Explain advantage of sickle cell trait.
81. Explain symptoms of phenyl ketonuria ?
82. What is Down’s syndrome ? State the causes of Down’s syndrome.
83. What is phenylketonuria ? State the causes of phenylketonuria.
84. What is Haemophilia ? State its causes of haemophilia.
85. What is Klinefelter’s syndrome ? State the causes of Klinefelter’s syndrome.
86. What is Turner’s syndrome ? State the causes of Turner’s syndrome.
87. Explain symptom of Haemophilia and casue of haemophilic.
88. Wrie significance or importance of Genetic Engineering.
89. Write short notes on types of haemophilia ?
90. Explain symptoms of sterile male.
91. Explain about symptoms of sterile female.
92. What is Human Genome Project ? Write the reasons for the HGP.
93. Draw labelled diagram about different steps in Genetic Engineering.
94. A white eyed male Drosophila never passes the white eyed gene to his male offspring why ?
95. Explain Criss-cross inheritance with examples.
96. Why the male Drosophila and female fowl bird are called heterogemetic while female Drosophila and the
male fowl are called homogametic ?
97. What is X-linked gene ?
98. What are holandric gene ?
99. What are Y-linked genes ?
100. State and explain the law of dominance using monohybrid cross ?
101. Mendel is regarded as "Father of Genetics", Why ?
102. Drosophilla is a queen of genetic. Justify.
103. Why did Mendel select pea plants for his experiments ?
104. Write the laws or principles given by Mendel.
105. What would be the result in F1 and F2 generation in the following.
i. Pure tall × Pure tall
ii Pure tall × Pure dwarf
iii. Pure tall × Heterozygous tall
106. Write short notes on purity of gametes.
107. What is the genotypic ratio of F2 in a Mendelian dihybrid cross ?
108. Father is colourblind, his children are normal, explain this anomaly.
109. If a colourblind man marries a women whose father was colourblind, how the trait of colour blindness
will be inheried by their offspring ?
110. Write short notes on Bonellia Viridis.
111. A women has a normal vision, but her father was colourblind. If she is married to a colourblind person,
what are the chances of colourblind children ?
112. A lady has genes for haemophilia, which of her offsprings may inherit this disease ?
113. What is pedigree analysis ? Suggest how such analysis, can be useful.
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37. How hormones plays an important role in sex determination ?
38. Write short notes on XX—XY type of sex determination.
39. Explain XX—XO type of sex determination.
40. Explain ZW—ZZ type of sex determination.
41. Which type of sex determination found reptiles and birds and explain it ?
42. What is sex linked inheritance ? Explain with one example.
43. Write short notes on ZO-ZZ type of sex determination.
44. How PCR applicable for recombinant DNA technology ?
45. Write the objectives or goals of Human genom project.
46. Write the application of HGP.
47. Write the application of Recombinant DNA technology.
48. Explain PCR technology.
49. Write the application of DNA finger printing.
50. How DNA finger printing applicable in crime detection ? Explain.
51. What is pedigree analysis ? Give its significance.
52. Explain pedigree analysis.
53. Write short notes on sickel-cell anaemia.
54. Explain blood clotting factor related genetic disorders.
55. What is Down’s syndrome ? Write causes and symptoms of Down’s syndrome.
56. Write Klinefelferis syndrome.
57. Write the causes and symptoms of Turner’s syndrome.
58. What do you mean by criss-cross inheritance ? Give examples.
59. What do you mean by phenylketonurea ?
60. What is DNA finger printing ?
61. Explain inheritance of colour blindness in human.
62. Explain inheritance of haemophilia.
63. What do you mean by human genom projects ?
64. What is chiasma ?
65. What will be the phenotypic ratio of ofsprings from a marriage between colourblind father and normal
mother ?
66. What will be the phenotypic ratio of offsprings from a marriage between normal man and carrier
haemophilic woman ?
67. What will be the phenotypic ratio of offspring from a marriage between a carrier mother and colourblind
father ?
68. What is the function of restriction endonuclease ?
69. Define linkage. State its disadvantages and advantages
70. What is mean by allele ?
71. Explain symptoms of klinefelter’s syndrome.
72. Explain symptoms of Turner’s syndrome.
73. Explain symptoms of Down’s syndrome.
74. What is a gene related disorders ? Explain it with an example.
75. Explain trisomy and monosomy syndromes found in human being.
76. Explain haemophilia A and haemophilic B.
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01. What is barr body ? Give its significance.
02. What is Chiasmata ?
03. What is linkage ? Mention its significance.
04. What is Test Cross ? Mention its significance.
05. Why drosophila is considered suitable for genetic experiments.
06. Why is man unable to pass on a sex linked gene to his son ?
07. How is sex determined in human being ?
08. How linkage differs from crossing over ?
09. What will happen, if a complete set of chromosome are added to diploid genome ?
10. What are autosomes ? How it differ from sex chromosmes ?
11. What is genic balance theory ?
12. Explain free martin.
13. Mention the role of environment on sex determination.
14. What is inversions ?
15. What is translocation ?
16. Write short notes on colourblindness.
17. Write short notes on crossing over.
18. Write short notes on linkage.
19. Write short notes on Back cross and Test cross.
20. What is point mutation ? Give examples.
21. Explain deletion.
22. Explain duplication.
23. What is an autopolyploidy ?
24. What is an allopolyploidy ?
25. What is polyploidy ? Give its significance.
26. What is the role of chromosome duplication in evolution ?
27. What is duplication ? State its significance.
28. What is inversion ? State its significance.
29. What is crossing over ? State its significance.
30. Write the mechanism of crossing over.
31. What is complete linkage ? Explain with example.
32. What is incomplete linkage ? Explain with example.
33. Every Test Cross is a back cross but every back cross will not be a test cross. Justify
34. State and explain the law of segregation.
35. State and explain the law of independent assortment.
36. How barr body plays an important role in sex determination ?
( 39 )
13. A husband and wife have normal vision but fathers of both of them were colour blind. Probability of their
first daughter to be colour blind is :
(a) 25% (b) 50% (c) 75% (d) 0%
14. When a hybrid tall pea is cross fertilized by a pure dwarf, the ratio of tall to dwarf grown from the seeds
will be ?
(a) 3 : 1 (b) 2 : 1 (c) 1 : 3 (d) 1 : 1
15. Mendel did not recognize the linkage phenomenon in his experiments because.
(a) he did not have powerful microscope
(b) he studied only pure plants
(c) there were many chromosomes to handle
(d) characters he studied were located on different chromosomes
16. The best method to improve the genetic quality of mankind is :
(a) marriage restriction (b) sterilizations
(c) control of immigrations (d) sexual separation of defectives
17. Mendelian recombinations are due to :
(a) independent assortment of genes (b) linkage of genes
(c) mutation (d) dominance
18. Which one of the following is correct for sex linked character ?
(a) dominant (b) recessive (c) lethal (d) not inherited
19. What is the phenomenon called, when an allele of one gene suppresses an allele of another gene ?
(a) dominance (b) suspression (c) epistasis (d) inactivation
20. Which of the following disease is sex linked in man ?
(a) leukemia (b) malignancy (c) night blindness (d) colour blindness
21. Which one of the following is the chromosome arrangement in Turner's syndrome ?
(a) XX (b) XYY (c) XY (d) XO
22. Which one can induce polyploidy ?
(a) colchicines (b) acridines (c) ethylene (d) maleic hydrazide
23. Which one of the following characters is sex linked ?
(a) haemophilia (b) down's syndrome (c) sickle cell anemia (d) baldness
24. If a child has 'O' type of blood group and the mother is 'B' type, what will be the genotype of father ?
(a) I0I0 (b) IAIB (c) I0IB (d) IBIB
25. Which one of the following is a test cross ?
(a) Tt × Tt (b) TT × Tt (c) TT × TT (d) Tt × tt
26. Nirmal is colourblind. What is the chance of his son inheriting colourblindness from him ?
(a) 50% (b) Nil (c) 100% (d) 75%
27. Which one of the following is correct for sickle cell anaemia ?
(a) epistais (b) codominance (c) pleiotropy (d) incomplete dominance
( 38 )
24. How many autosomes are present in a mature human sperm?
Ans. 22.
25. What happens when two genes are situated very close to each other in a chromosome?
Ans. Hardly and crossing over is detected.
26. Which sex is usually a carrier?
Ans. Female
27. Who coined the work chromosome?
Ans. W. Waldeyer (1888)
28. Who first discovered chromosomes?
Ans. Hofmeister
29. What is unit of inheritance?
Ans. Gene.
30. Sickle cell aneamia, a genetic disorder, is caused due to which reason?
Ans. Homozygous recessive condition in the person.
31. Who had proposed Chromosomal theory of heredity in year 1902 ?
Ans. Boven and Sutton
CHOOSE ONE CORRECT ANSWER FROM THE CHOICES GIVEN:
01. What is the gene pair signifying a trait called?
(a) hybrid (b) phenotype (c) pure line (d) alleles
02. In male cells of humans is absent.
(a) golgibodies (b) ER (c) barr body (d) sex chromosome
03. Genetic identity of human male is determined by
(a) autosome (b) nucleolus (c) sex chromosomes (d) cell organclles
04. Girl of normal vision whose father was colour blind marries a man of normal vision whose father was also
colour-blind. The sons of this marriage would be:
(a) all normal (b) all colour blind (c) 50% colour blind (d) 25% colour blind
05. Gynandromorph is :
(a) male with female trait (b) female with male traits
(c) half male and half female (d) none of these
06. A haemophilia man marries a carrier woman. Their children will be :
(a) all haemophiliac (b) one fourth haemophiliac
(c) half haemophiliac (d) one tenth haemophiliac
07. A recessive sex linked trait in human will be expressed :
(a) only in males (b) more often in males than in females
(c) more often in females than in males (d) equally in both males and females.
08. Discontinuous variations are :
(a) acquired characters (b) mutations
(c) essential features (d) non-essential features.
09. The term gene which was coined by Johannsen was termed by Mendel as
(a) replicon (b) factor (c) active principle (d) cistron.
10. How many possible genotypes are there for the ABO blood group which are controlled by three multiple
alleles ?
(a) 6 (b) 4 (c) 5 (d) 1
11. Male XX and female XY sometimes occur due to
(a) deletion (b) transfer of segments is sex chromosome
(c) aneuploidy (d) hormonal imbalance.
12. In birds - type of sex determination occurs.
(a) XX female XY male (b) XX female XO male (c) ZW female ZZ male (d) ZW female ZO male
( 37 )
VERY SHORT QUESTIONS WITH ANSWERS: (ANSWER IN ONE/TWO WORDS):
01. Gregor Johann Mendel is regarded as what ?
Ans. Father of genetics
02. What term was used by Mendel for 'gene' ?
Ans. Factor
03. Who coined the term 'genetics'?
Ans. W. Bateson
04. Which cytological configuration proves occurrence of crossing over?
Ans. Chiasma (x)
05. The point of contact where the non-sister chromatids of a homologue cross over each other is called
what?
Ans. Chiasmata
06. Which is the smallest chromososme of human male?
Ans. Y-chromosome
07. Which chromosome is called androsome?
Ans. Y-chromosome
08. The gene for baldness behaves as an autosomal dominant in males and autosomal recessive in females.
True or False?
09. In drosophila which chromosome is sexually inert?
Ans. Y-chromosome
10. In drosophila which chromosomes carry maleness?
Ans. Autosomes
11. Which syndrome is expressed if a man has chromosome constitution 44 autosomes and XXY?
Ans. Klinefelter's syndrome
12. If the chromosomal composition of woman is 44 autosomes and X, what syndrome she expresses?
Ans. Turner's syndrome
ANSWER IN A FEW WORDS:
13. What is the term Mendel used for inheritable characters?
Ans. Unit character.
14. Who discovered sex-linkage in Drosophilla melanogaster?
Ans. T. H. Morgan
15. In which substage of prophase-I, crossing over takes place.
Ans. Pachytene
16. Who proposed the 'mutation theory'?
Ans. Hugo
17. Who proposed chromosome theory of heredity?
Ans. Sutton and Bovery
18. Which chromosome in human is called androsome?
Ans. Y-Chromosome
19. What type of linkage is seen in male drosophila?
Ans. Complete linkage
20. How many linkage groups are present in drosophila and man respectively?
Ans. 4 and 23
21. Who first coined the term gene?
Ans. Johanson
22. What is the ratio of a dihybrid test cross?
Ans. 1:1:1: 1
23. Which pattern of inheritance is seen is sex linked characters?
Ans. Criss-cross
( 36 )
Fill in the blanks:
01. The sex is determined by . (autosomes, sex chromosomes, DNA, RNA)
02. The genes of sex linked character are mostly present on .
(x-chromosomes, y-chromosomes, autosomes, none)
03. An individual who received similar genes for the same character is called .
(azygous, homozygous, heterozygous, alielomorphic)
04. The chromosomes other than those relating to sex are known as .
(cytosomes, lysosomis, autosomes, acrosomes)
05. A cross fused to ascertain whether a dominant is homozygous or heterozygous is termed .
(monohybrid, reciprocal, back cross, linkage cross)
06. Mule is a hybrid offspring of .
(male and female donkey, cow and ox, horse and donkey, male and female horses)
07. If a heterozygous tall plant is crossed with a homozygous dwarf plant, the proportions of dwarf progeny
will be . (25%, 50%, 100%, 75%)
08. A child receive from his father . (25%, 50%, 100%, 75%)
09. Two homozygous genes indentical in genotype are called .
(homozygous, hemizygous, heterozygous, none)
10. Inheritance of skin colour in mammals is usually .
(monogenic, multiple allelism, polygenic, pseudoallelism)
11. Segregation of alleles takes place during .
(meiosis, cleavage, fertilization, crossing over)
12. Law of independent assortment can be provided on the basis of ratios.
(3 : 1, 2 : 1 : 1, 9 : 3 : 3 : 1, 2 : 1)
13. Progeny of a hybrid plant .
(breed true, resemble maternal plant, segregate, resemble paterral plant)
14. Continuous variations are attributed to . (mutation, crossing over, polyploid)
15. The phemotypic ratio 1:1 : 1:1 is expected from .
(monohybrid cross, dihybrid cross, monohybrid back cross, dihybrid test cross)
16. Identical twins are . (heterozygous, homozygous, monozygotic, dizygotic)
17. Who postulated the mutationtheory . (lamark , darwin, devries, haeckel)
18. An organism in which both genes for a character are similar is called as .
(homozygous, heterozygous, dominant, recessive)
19. Six fingers instead of five is .
(continuous variation, meristic variation substantive variation , mutation)
20. The variation in height in human beings is a .
(discontinuous variation, substantive variation, meristic variation)
21. Baldness in man is .
(sex-linked character, chromosomal theory of inheritance, criss-cross inheritance)
22. Incomplete linkage is found in . (maize, drosophila, silk moth)
23. Complete linkage is found in . (drosophila, male drosophila, female drosophila)
24. Red-green colour blindness is a character. (sex-linked, non sex-linked, criss-cross)
25. The sum total of genes in a population is called . (linkage of genes, gene pool, genome)
26. A child receives genes from his father. (25%, 75%, 50%, 100%)
27. Mother donates her x-chomosome to her . (male child, female child, all, none of the above)
28. Willson detected the colour -blindness disease in the year . (1905, 1911, 1925)
29. Haemophillia was first studied by . (morgan, Goldschmidt, John cotto)
30. introduce the term 'Gynandomorph'. (William Bateson, R.C. Pnnet, R.B. Goldschmidt)
( 35 )
11. How many autosomes are present in man?
Ans. 44
12. Who gave the cytological proof of crossing over?
Ans. Curt stern
13. Which is the smallest chromosome of human male?
Ans. Y chromosome
14. Down's syndrome is the result of trisomy of which chromosome?
Ans. 21 (trisomy)
15. In one half of the body has male traits and the other half has female characterts, what term is applied for
such individuals.
Ans. Gynandromorphs
16. Who first observed the sex chromosomes?
Ans. Henking
17. Which is called Royal disease?
Ans. Haemophillia
18. Haemophilia B is otherwise called what disease.
Ans. Christmas.
19. Who proposed strain and torsion theory to account for crossing over?
Ans. Derlington
20. In which mammal the barr body was frst discovered? From which cell? Who discovered M. Barr?
Ans. Female cat, nerve cells
21. What is the sex index ratio of a normal female drosophila?
Ans. 1
22. If the chromosomal composition of a woman is 44 autosomes and x. what syndrome she expresses?
Ans. Turner's syndrome
23. Which factor determines the sex in Bonellia?
Ans. Environmental
24. Which term is applied for exchange of chromosomal segments between non-homologous chromosomes?
Ans. Translocation
25. Who gave sex-linkage theory?
Ans. Morgan
26. What is Dia-genic inheritance?
Ans. Inheritance from male to male through daughter.
27. What is Dia-andric inheritance?
Ans. Inheritance from female to female through son.
28. What is Holo-genic inheritance?
Ans. Inheritance from mother to daughter directly.
29. The point of contact where the non-sister chromatid of a homologue cross over each other is called
what?
Ans. Chiasmata
30. Which cytological event is antagonistic to linkage?
Ans. Crossing over
31. Which syndrome is expressed if a man has chromosome constitution 44 autosomes and xxy?
Ans. Kinefelter's syndromes
( 34 )
GROUP - B
01. Explain 'Law of Segregation'.
02. If a normal man marries a colourblind woman what would be their offsping?
03. Explain the 'Law of segregation'.
04. Mention with graphic representation the phenotype ratio of offspring when a colourblind woman marries
a normal man.
05. What is the significance of crossing over.
06. What do you mean by recombination.
07. What is sex-chromosomes? How does it differ from Autosome.
08. What is freemartins.
09. Explain the principle of segregation? Give example.
10. Differentiate between factor and recessive factor.
11. Differentiate genotype and phenotype.
12. Differentiate linkage and crossing over?
13. Differentiate Back Cross and Test cross.
14. Differentiate between linkage and crossing over.
15. Explain 'the law of dominance".
16. What do you mean by Sex chromosome? How sex is determined in human being?
GROUP - C
01. Give an account of sex determination?
02. Describe the chromosomal theory of sex determination?
03. Give an account of sex linked inheritance in drosophila and man.
04. Write short notes on Colourblindness.
05. Write short note on :
(a) Sex-determination (b) Crossing over (c) Ploidy
(d) Crossing over (e) Linkage (f) Recombination
( 33 )
41. Free-martin is an example of :
(a) Sex reversal (b) Hormonal control of sex
(c) Transformer gene (d) None of these
42. The gene responsible for haemophilia is linked to _ chromosomes.
43. What is the phenomenon called, when an allele of one gene suppresses in allele of another gene?
(a) Dominance (b) Supression
(c) Epistasis (d) Inactivation
44. If a child has 'O' type of blood ground and the mother is 'B' type, what will be the genotype of the father?
(a) I0I0 (b) 1A1B (c) I01B (c) IBIB
45. Determination of sex of a child depends upon :
(a) Nature of sperm (b) Nature of egg (c) Health of father (d) Age of mother
46. Which disease is sex linked in man:
(a) Leukemia (b) Malignancy (c) Night blindness (d) Colour blindness
47. Unfertilized ovum of human contains :
(a) One Y-chromosome (b) X and Y-chromosome
(c) XX-chromosome (d) One X-chromosome
48. Genes of which inheritable traits are present on the X-chromosome:
(a) Albinism (b) Sickle cell anaemia (c) Haemophilia (d) Malaria
49. Based on the XX and XY-sex determination, average number of male and female human beings in the
world is :
(a) 1 : 4 (b) 1 : 3 (c) 2 : 3 (d) 1 : 1
50. Universal recipient persons are of the blood group :
(a) A (b) B (c) AB (d) O
51. In human the sex determination in offspring occurs through :
(a) Sex chromosome of the mother (b) Size of ovum
(c) Size of sperm (d) Sex chromosome of father
52. A person with blood group A can be given blood of which group:
(a) A and B (b) B and O (c) A and O (d) A, B, AB and Q
53. Barr bodies are found in :
(a) Sperms (b) Ova
(c) Body cells (somatic) of man (d) Somatic cells of woman
54. Number of chromosomes in primary spermatocyte :
(a) 22 (b) 23 (c) 46 (d) 48
55. Husband has normal vision, wife is carrier for colour blindness, their children can be :
(a) Sons normal and colour blind, daughters normal and carrier.
(b) Sons normal, daughter normal and carrier
(c) Colour blind sons, daughters normal and carrier
(d) Sons colour blind, daughters carrier
56. Blood group of husband is A and of wife is B. What is the possibility of blood groups in their children:
(a) A and B (b) A, B and AB (c) AB (d) A, B AB and O
57. Haemophilia occurs due to :
(a) Mutation in Y chromosome (b) Mutation in X chromosome
(c) X and Y chromosome (d) Blood deficiency
58. A colour blind daughter is born when :
(a) Father is colourblind, mother is normal (b) Mother is colour blind and father is normal
(c) Mother is carrier, father is normal (d) Mother is carrier, father is colourblind
( 32 )
26. A man of 'A' blood group marries a woman of 'AB' blood group. Which type of progeny would indicate
that man is heterozygous?
(a) O (b) B (c) A (d) AB
27. When an animal has both the characters of male and female, it is called:
(a) Super male (b) Intersex (c) Super female (d) Gynandromorph
28. In most animals, sex of the offpsing is established during :
(a) Cleavage (b) Fertilization (c) Crossing over (d) Embryo formation
29. Sex of a human child is determined by :
(a) Size of the egg (b) Size of the sperm
(c) Sex chromosome of the father (d) Sex chromosome of the mother
30. A family has five girls and no sons. Probability of son in the sixth child will be:
(a) 20% (b) 50% (c) 75% (d) 100%
31. A girl of normal vision whose father was colour blind marries a man of normal vision whose father was
also colour blind. Their sons would be (of total number of sons) :
(a) All normal (b) 25% colour blind (c) All colour blind (d) 50% colour blind
32. A colour blind daughter is born when :
(a) Mother is carrier, father is normal (b) Mother is carrier, father is colour blind
(c) Father is colour blind, mother is normal (d) Mother is colour blind, father is blind
33. Ram is colour blind. What is the chance, has son will inherit colour blindness from him ?
(a) 0% (b) 25% (c) 50% (d) 100%
34. A female whose father was colour blind, marries a normal man. What percentage of her sons would be
colour blind ?
(a) All (b) 50% (c) 25% (d) Nonpredictable
35. A marriage between normal visioned man and colour blind woman will produce which of the following
types of offsprings?
(a) Normal sons and carrier daughters
(b) Colour blind sons and carrier daughters
(c) Colour blind sons and 50% carrier daughter
(d) 50% colour blind sons and 50% carrier daughters
36. A woman with normal vision, but whose father was colour blind, marries a colour blind man. Suppose tat
the fourth child of this couple was boy. This boy :
(a) Must be colour blind
(b) Must have normal colour vision
(c) May be colour blind or may be of normal vision
(d) Will be partially colour blind since he is heterozygous for the colour blind mutant allele
37. Sex influenced characters are due to:
(a) Y-linked genes (b) X-linked genes
(c) Autosomal genes (d) Y-linked gene modifications
38. Family has 9 girls. Probability of son at 10th birth is:
(a) 50% (b) 100% (c) 25% (d) 75%
39. A hereditary disease which is never passed on from father to son is:
(a) Autosomal linked disease (b) X-chromosomal linked disease
(c) Y-chromosomal linked disease (d) None of these
40. Which of the following is not a X-linked recessive disease ?
(a) Haemophilia (b) Beta thalassemia
(c) Colour blindness (d) Glucose-6-phosphate dehydrogenes deficiency
( 31 )
09. Barr body is associated with :
(a) X-chromosomes (b) Autosome (c) Y-chromosome (d) Male sex only
10. Sex linked characters are usually:
(a) Lethal (b) Recessive (c) Dominant (d) Pleiotropic
11. A child gets sex linked traits from:
(a) Father (b) Mother
(c) Both father and mother (d) None of these
12. Which character is sex linked in Drosophila ?
(a) Red eye colour (b) Grey body colour (c) White eye colour (d) All of these
13. Free martins occur due to :
(a) Environmental control of sex (b) Hormonal control of sex
(c) Sex reversal by gene (d) None of these
14. Colour blindness in man is :
(a) Dominant character (b) Sex limited character
(c) Sex linked character (d) sex influenced character
15. A colour blind father may have a normal daughter but again a colour blind grandson through her. This
indicates that the gene responsible for colour blindness is located on :
(a) X-chromosome and recessive (b) Y-chromosome and recessive
(c) X-chromosome and dominant (d) Y-chromosome and dominant
16. Foetal sex can be determined by examining cells from amniotic fluid by looking for :
(a) Minetochore (b) Chiasmata (c) Barr bodies (d) Autosomes
17. If a colour blind woman marries a normal man their children will be :
(a) All normal
(b) All colour blind
(c) All daughters normal and all sons colour blind
(d) All sons normal and all daughters colour blind
18. If both blind girl is rare because she will be born only when:
(a) Her mother is colour blind and father has normal vision
(b) Her father and maternal grand father were colour blind
(c) Her mother and maternal grand father were colour blind
(d) Parents have normal vision but grand parents were colour blind
19. A phenotypically normal couple has two normal daughters and a son affected with haemophilia. What is
the probability that both the daughters are heterozygous carries?
(a) 0% (b) 25% (c) 100% (d) 50%
20. The female children of a haemophilic man and carrier woman are likely to be :
(a) All carriers (b) All haemophilic
(c) Half normal and half carriers (d) Half haemophilic and half carriers
21. A haemophilic man marries a normal homozygous woman. What is the probability that their son will be
haemophilic ?
(a) 9% (b) 50% (c) 75% (d) 100%
22. Which disease is genetically linked ?
(a) Dysntery (b) Plague (c) Haemophilia (d) Tuberculosis
23. Holandric genes are situated on :
(a) X-chromosome (b) Y-chromosome (c) Autosomes (d) None of these
24. If blood group of parents are AB and O, the possible blood groups of children are:
(a) A or B group (b) O+ group only (c) O– group only (d) AB group only
25. An injured person of unknown blood group needing immediate blood transfusion can be given the
following blood group :
(a) A (b) O (c) B (d) AB
( 30 )
GENETICS
Additional Question Bank
GROUP - A
01. How many linkage groups are present in Drosophila and man respectively ?
02. How many autosomes are present in a mature human sperm.
03. What is the percentage of genes a child received from its mother?
04. In which substage of Prophase-I, crossing over takes place.
05. Which theory of sex-determiantion is applicable for free martins?
06. While the phenotypic ratio between tall and dwarf plants in Mendel's Monohybrid cross was 3 : 1, what
was the genotypic ration in this ?
07. Red green colour blindness in a man is a character.
08. Fathers pass X-linked trait to _.
09. The plant used by Mendel for his studeies?
10. More than two alternate forms of a gene is called _.
11. The genotypic ratio of monohybrid cross is .
12. Free martins are commonly found in _.
13. What is Euploidy?
14. ZW-ZZ type of sex determination is found in which group of animal?
15. XX-XY type of sex determination is found in which animal.
16. Name some sex linked disease.
17. What are holandric genes?
18. Which sex is usually a carrier?
19. On which chromosome is the character of colour blindness located?
20. In which blood group both A and B antibodies are absent?
( 29 )
26. Differences between Turner’s Syndrome and Klinefelter’s Syndrome.
Sl.
Character Turner's Syndrome Klinefelter's Syndrome
No.
1. Genotype 44 + X0 44 + XXY
These disorders affect both the These disorders affect the males
2. 2.
sexes, i.e., males and females. more than the females.
T he m utated gene m ay be
3. 3. The mutated gene is recessive.
dominant/recessive.
There are two alleles for an The males carry only one while
1. autosomal character in all 1. the females have two alleles of
individuals. such characters.
( 28 )
23. Difference between Monohybrid Cross and Reciprocal Cross.
Sl. Sl.
Monohybrid Cross Reciprocal Cross
No. No.
A single sided monohybrid cross cannot d A r eci p ro cal cro ss can d i sti ng u i sh
istinguish between nuclear and b etw een n u c l ear an d cyto p l asm i c
3. 3.
cytoplasmic of sex-linked and autosomal inheritance as well as sex l inked and
traits. autosomal inheritance.
Sl. Sl.
Linked Genes Unlinked Genes
No. No.
Sl. Sl.
Complete Linkage Incomplete Linkage
No. No.
There is no crossing over between closely Crossing over occurs to bring recombinants
2. 2.
linked genes. alongwith parental types.
( 27 )
20. Differentiate Genotype and Phenotype.
Sl. Sl.
Genotype Phenotype
No. No.
G eno ty pe rem ains the sam e Phenotype may change with time, e.g.,
2. 2.
throughout the life of an individual. infant, adolescent, young and old.
It is a cross between two pure organism s in It is a cross between two pure organism s
1. order to study the inheritance of a single pair 1. o f a sp e ci es i n o r d er to s tu d y th e
of alleles. inheritance of two pair of alleles.
4. It produces one type of gam etes 4. It produces two types of gam etes.
( 26 )
16. What do you mean by Sex Chromosome ? How sex is determined in human being ?
Ans: (i) Sex chromosomes are the chromosomes which singly or in pair determine the sex of the indi- vidual
in dioecious or unisexual organisms. They are called 'allosomes' or 'idiochromosomes'. Human
beings are X and Y chromosomes as sex chromosomes.
(ii) Sex of an offspirng in human is determined at the time of fertilization. Female produce on type of
'egg (22 + X)' as they are homogametic and male produce two types of sperms, 'androspearms (22
+ Y)' and 'gynosperm (22 + X)'. Fertilization with an androsperm (22 + Y) given a male child (44
+ XY).
17. Explain the principle of segregation? Give example.
Ans: Principle of segregation states that, when a pair of contrasting factors of alleles are brought together in a
hybrid (heterozygote), these factors do not blend of mixup but keep their identity, simply associate
themselves remain together and separate at the time of tamete formation. Example: In monohybrid
cross, the two factors in F1 plant segregate during gamete formation and as they carry single factor or
allele for a trait 50% of one type and 60% of 2nd type, the factors get randomly distributed in offspring
or F2 plants giving ratio 1 : 2 : 1.
18. Difference between Linkage and Crossing over.
Sl. Sl.
Linkage Crossing Over
No. No.
Sl. Sl.
Dominant Factor Recessive Factor
No. No.
Recessive allele or factor is unable to
It is able to express itself even in the
1. 1. express i ts effect in the presence of
presence of its recessive allele.
dominant allele.
It does not require another similar allele It produces its phenotypic effect only in
2. to produce its effect on the phenotypic. 2. the presence of a similar allele, e.g., tt is
e.g. Tt is tall. dwarf.
The recessive allele forms an incomplete
Dom inant al lele or factor can form
or defective polypeptide or enzyme so
complete polypeptide or enzyme for
3. 3. that the expression consists of absence of
expressing its effects, e.g., red colour of
the effect of dominant allele, e.g., white
flower in Pea.
flower colour in Pea
( 25 )
09. Explain 'haploidy'.
Ans: The basic set of chromosomes in any species is haploid that is each chromosomes is represented singly.
Hence, all the chromosomes are represented by 'n'. the gametes carry n number of chromosomes. When
male and female gametes use to form the zygote, the latter gets n + n = 2n number of chromosomes
which is the diploid number. This diploid number continues to be present in all the cells derived from the
zygote.
10. Explain 'polyploidy' ?
Ans: Polyploidy is the condition in which the cells of an organism contains more than two sets (2n) of chromo-
somes. Accordingly they are called triploid (3n) having three sets, tetraploid (4n), pentaploid (5n) and so
on. Polyploid condition arises owing to the abnormality in cell division. Due to non-disjunction of ho-
mologous chromosomes gametes with 2n chromosomes may be formed. In case such a gamete is
fertilized by a normal gamete (n) a triploid zygote will be formed.
11. What is an autopolyploid ?
Ans: An autopolyploid has all its chromosome sets of its own species. Hence, there is no addition of new genes
occur.
12. What is an allopolyploid ? Give examples.
Ans: In allopolyploid the chromosome sets are derived from different species. In it addition of new genes occur
which causes much variation in the organism and those are heritable. Eg: Raphanobrassica (2h = 18R +
18B), a hybrid formed by a cross between Raphanus sativus (radish, 2n = 18) and Brassica oleracea
(cabbage, 2n = 18)
13. What are back cross and test cross? Give examples.
Ans: (i) Back Cross: It is the cross performed between hybrid and one of its parents. Example: A crop plant
is crossed with wild variety in order to obtain its disease resistance. In this process most good
traits of the crop plant get diluted. The hybrid is, therefore, repeatedly crossed with parent crop
plant in order to transfer the good traits back into it.
(ii) Test Cross : It is a cross to know whether an individual is homozyvous or heterozygous for
dominant character. Here the individual is crossed with recessive parent.
14. Explain 'the Law of Dominance'.
Ans: (i) Law of dominance is one of the laws of Mendel.
(ii) It states that when two hereditary units of a pair are unlike, the one which functions and produces
its effect called 'dominant' while the other which remain undeveloped or suppressed is called
recessive.
(iii) The law of dominance cane be explained by amonohybrid cross.
(iv) When a pure tall plant (TT) is crossed with a pure dwarf plant (tt) the palnts in the F1 generation
are all tall due to law of dominance. Though it is not universally applicable.
15. What are Monohybrid Cross and Dihybrid Cross ?
Ans: Monohybrid Cross : While only one allelic pair is considered in cross breeding, it is called monohybrid
cross. The phenotypic ratio monohybrid cross 3 : 1 and genotypic ratio is 1 : 2 : 1. Mendel derived 3 laws
from e.g. "Law of paired factors', 'Law of dominance', Law of Segregation', 'Purity of gamete'.
Dihybrid Cross : When two allelic pairs (or two traits) are considered during cross breeding, it is called
Dihybrid cross. Example: Inheritance of yellow and round seed characters and green wrinkled characters
in a dihybrid cross. The phenotypic ratio in dihybrid cross is 9 : 3 : 3 : 1 and genotypic ratio is (1 : 2 : 2
: 4) :: (1 : 2) ::(1 : 2) :: (1). The phenotypic ratio in dihybrid cross is 9 : 3 : 3 : 1 and genotypic ratio is
(1 : 2 : 2 : 4) :: (1 : 2) :: (1 : 2) :: (1).
( 24 )
03. What will be the phenotypic ratio of offspring from a marriage between colour blind father and normal
mother ?
Ans:
Results : All daughter will be carrier and all sown will be normal. Phenotypic ratio (carrier daughter
normal son) - 1 : 1
04. What will be the phenotypic ratio of offspring from a marriage between a carrier mother and colourblind
father ?
Ans :
Phenotype Ratio = Colourblind Daughter : Carrier Daughter : Colourblind son : Normal son = 1 : 1 : 1 : 1
05. Why a man is unable to pass his sex-linked genes (x-linked) to his son ? Explain.
Ans: (i) The male has only x-chromosome and that goes to his daughter during inheritance. (The genes
which are located on x-chromosome are x-linked genes or sex-linked genes)
(ii) The female possesses to x-chromosomes (xx) and one of the x-chromosomes from mother goes
to son.
(iii) The x-linked genes from a man cannot pass to his son because the son (XY) gets X-chromo-
somes from mother and the y-chromosomes from father.
(iv) Human male has XY and female has XX chromosome. The Y-chromosomes does not contain sex
linked genes.
06. What is Chiasma ?
Ans: During diplotene movement (separation) of homologous chromosomes of a bivalent cross (X) type con-
figurations are formed at the point of crossing over. These are called chaismata. As the pairing partners
move away from each other farther and farther the chiasmata move towards the telmeres. Such move-
ment of chiasmata is called terminalization. By counting the number of chiasmata cross over frequencies
can be determined.
07. What do you mean by criss-cross inheritance ?
Ans: Usually the X-linked characters of males are transmitted to their grandsons through their daughters. The
trait is not expressed in the daughter (call carrier). Such transmission of character is called criss-cross
inheritance. Ex: Colour blindness, haemophilia, eye colour in Drosophila etc.
08. Explain euploidy.
Ans: Euploidy refers to the change in the number of sets of chromosomes in an organism. As diploidy (=hav- ing
two sets of similar chromosomes) is universally present as normal sets of chromosomes in most of the
organism. Hence, changes in the number of sets i.e. presence of a single, three of more sets of
chromosomes are regarded as euploidy. Presence of half the number (n) of chromosomes of a diploid
(2n) is called haploidy and presence of 3n, 4n chromosomes in a cell is called polyploidy.
( 23 )
20. Number of chromosomes in primary spermatocyte :
(a) 22 (b) 23 (c) 46 (d) 48
21. Husband has normal vision, wife is carrier for colour blindness, their children can be :
(a) Sons normal and colour blind, daughters normal and carrier
(b) Sons normal, daughter normal and carrier
(c) Colour blind sons, daughters normal and carrier
(d) Sons colour blind, daughters carrier
22. Blood group of husband is A and of wife is B. What is the possibility of blood groups in their children :
(a) A and B (b) A, B and AB (c) AB (d) A, B AB and O
23. If one parent had blood group A and other parent has blood group B, the offspring can have which blood
group :
(a) AB (b) A, O (c) B, O (d) A, B, AB, O
24. A colour blind daughter is born when :
(a) Father is colourblind, mother is normal (b) Mother is colour blind and father is normal
(c) Mother is carrier, father is normal (d) Mother is carrier, father is colourblind
25. Free martins occur due to :
(a) Environmental control of sex (b) Hormonal control of sex
(c) Sex reversal by gene (d) None of these
26. Foetal sex can be determined by examining cells from amniotic fluid by looking for :
(a) Minetochore (b) Chiasmata (c) Barr bodies (d) Autosomes
27. Which disease is genetically linked ?
(a) Dysntery (b) Plague (c) Haemophilia (d) Tuberculosis
28. Holandric genes are situated on :
(a) X-chromosome (b) Y-chromosome (c) Autosomes (d) None of them
29. Free-martin is an example of :
(a) Sex reversal (b) Hormonal control of sex
(c) Transformer gene (d) None of them
30. Haemophilia occurs due to :
(a) Mutation in Y chromosome (b) Mutation in X chromosome
(c) X and Y chromosome (d) Blood deficiency
31. The basic of DNA finger printing is :
(a) Occurrence of restriction fragment length polymorphsm (RELP)
(b) Availability of DNA
(c) Knowledge of human karyotype
(d) Phenotypic differences between individuals.
( 22 )
04. Freemartin is an example of :
(a) Hormonal control of sex (b) Reversal
(c) Transform of gene (d) Nutritional control of sex
05. Crossing over and linkage exception to Mendelian law of :
(a) Dominance (b) Segregation
(c) Independent Assortment (d) None of these
06. If the distance between two genes is more, the percentage of crossing over between the two genes will
be :
(a) Same (b) Less (c) More (d) Equal
07. Baldness is an example of _.
(a) X-linked gene inheritance (b) Y-linked gene inheritance
(c) Sex-influenced genes (d) Extra nuclear inheritance
08. A cross between a haemophillic man and normal homozygous woman all produce :
(a) 50% haemophilic sons (b) All sons haemophilic
(c) 25% haemophilic sons (d) 75% haemophilic sons
09. The inheritance of haemophillia is caused by a mutant gene present on :
(a) Y-Chromosomes (b) X-Chromosome (c) Autosome (d) Barrbody
10. If a child has 'O' type of blood group and the mother 'B' type, the genotype of the father will be :
(a) IOIO (b) IAIB (c)I OIB (d) IBIB
11. Genes of which inheritable are present on the X-chromosome :
(a) Albinism (b) Sickle cell anaemia (c) Haemophilia (d) Malaria
12. Based on the XX and XY-sex determination, average number of male and female human beings in the
world is :
(a) 1 : 4 (b) 1 : 3 (c) 2 : 3 (d) 1 : 1
13. Universal recipient persons are of the blood group :
(a) A (b) B (c) AB (d) O
14. In human the sex determination in offspring occurs through :
(a) Sex chromosome of the mother (b) Size of ovum
(c) Size of sperm (d) Sex chromosome of father
15. Husband has normal vision, wife is carrier for colour blindness, their children can be :
(a) Sons normal and colour blind, daughters normal and carrier
(b) Sons normal, daughters normal and carrier
(c) Colour blind sons, daughters normal and carrier
(d) Sons colour blind, daughters carrier
14. Blood group of husband is A and of wife is B. What is the possibility of blood groups in their children :
(a) A and B (b) A, B and AB (c) AB (d) A, B and AB and O
15. A colour blind daughter is born when :
(a) Father is colourblind, mother is normal (b) Mother is colourblind, father is normal
(c) Mother is carrier, father is normal (d) Mother is carrier, father is colourblind
16. Foetal sex can be determined :
(a) Kinetochore (b) Chiasmata (c) Barr bodies (d) Autosomes
17. In human the sex determination in offspring occurs through :
(a) Sex chromosome of the mother (b) Size of ovum
(c) Size of sperm (d) Sex chromosome of father
18. A person with blood group A can be given blood of which group:
(a) A and B (b) B and O (c) A and O (d) A, B, AB and O
19. Barr bodies are found in :
(a) Sperms (b) Ova
(c) Body cells (somatic) of man (d) Somatic cells of woman
( 21 )
ANSWER IN ONE WORDS.
01. Who is called as the father of genetics?
Ans: Gregor Johan Mendel.
02. What would be the phenotype in F1 generation in a cross between pure tall and pure dwarf ?
Ans: Hybrid Tall
03. What is the term used for a pair of contrasting characters ?
Ans: Alleles
04. What is the number of linkage groups in Drosophila ?
Ans: Four
05. How many autosomes are present in a mature human sperm ?
Ans: 22
06. What is the percentage of genes a child receives form its mother ?
Ans: 50%
07. What is the phenotype ratio inF2 in Mendelian monohybrid cross ?
Ans: 3:1
08. What are the gene pair signifying a trait called ?
Ans: Alleles.
09. Who first coined the term gene ?
Ans: Johannsen.
10. What is the scientific name of the plant with which Mendel worked ?
Ans: Pisum sativum (Pea)
11. How many linkage groups are present in man ?
Ans: 23
12. What is ratio of a dihybrid test cross ?
Ans: 1:1:1: 1
13. In human population which sex has more chance of becoming blad ?
Ans: Male.
14. Who proposed the genetic balance theory?
15. ZW-ZZ type of sex determination is found in which group of animal?
16. XX-XY type of sex determination is found in which animal.
17. Name some sex linked disease.
18. What are holandric genes?
19. Which sex is usually a carrier?
20. On which chromosome is the character of colour blindness located?
21. In which blood group both A and B antibodies are absent?
22. What is Euploidy?
23. Free martins are commonly found in .
( 20 )
LONG ANSWER-TYPE QUESTIONS
01. Discuss the chromosomal theory of sex determination.
02. What is genic balance theory and explain its role in sex determination.
03. Explain sex-linked inheritance. Discuss the phenomenon with the example of colour blindness.
04. Give an account of sex-linkage in Drasophila and Man.
( 19 )
ANSWER EACH OF THE FOLLOWING IN ONE OR TWO WORDS.
01. Name two sex-linked diseases of human being.
02. How Down syndrome is caused ?
03. In which chromosome is the gene for haemophilia located ?
04. What is the chromosomal formula for Truner syndrome ?
05. Which sex is usually a carrier ?
06. Who proposed the 'Genic balance theory' ?
07. What are holandric genes ?
08. In which chromosome, the factors for haemophilia and colourblindness is found ?
09. What is the other name of Bleeders disease ?
10. Which protein isin 'Sry' gene of Y chromosome ?
11. What is 'Gynandromorph' ?
12. What is 'Free martin' ?
13. What 'Criss-cross inheritance' ?
14. Which type of defect is found in 'Thalassemia' ?
15. Who first described 'Klinefelter's syndrome' ?
Difference between:
01. Phenotype and Genotype
02. Autosome and Allosome
03. X chromosome and Y chromosome
04. Supermale and superfemale
05. Sex differentiation and Sex reversal
06. Gynadromaph and Free martin
07. Down syndrome and Turner syndrome
( 18 )
SAMPLE QUESTIONS
MULTIPLE CHOICE TYPE QUESTIONS
01. A cross between F1 hybrid and a recessive parent gives the ratio of
(a) 3 : 1 (b) 1 : 1 (c) 2 : 1 (d) 4 : 1
02. A cross of F1 with the recessive parent is known as :
(a) back cross (b) hyrbid cross (c) test cross (d) double cross
03. A woman with albinic father marries and albinic man. The proportion of her progeny is :
(a) 2 normal : 1 albinic (b) all albinic (c) all normal (d) 1 normal : 1 albinic
04. Y cromosome is called :
(a) sex chromosome (b) androsome (c) autosome (d) gynaesome
05. Which one is a sex-linked disorder ?
(a) leukemia (b) night blindness (c) cancer (d) colour blindness
06. A haemophilic man marries a normal homozygous woman. What is the probability that their son will be
haemophilic ?
(a) 100% (b) 50% (c) 75% (d) 0%
07. What is the probability that their daughter will be haemophilic ?
(a) 100% (b) 50% (c) 75% (d) 0%
08. A fruitfly exhibiting both male and female trait is :
(a) heterozygous (b) hemizygous (c) gynandromorph (d) Gynandev
09. Genes located in Y chromosome are :
(a) mutant genes (b) holandric genes (c) autosomal genes (d) sex-linked genes
10. A colourblind person cannot distinguish :
(a) all colours (b) green colour (c) red colour (d) red and green colours
11. The gene responsible for haemophilia is linked to which chromosome ?
(a) X (b) Y (c) bothX and Y (d) Autosome
12. Red-green colourblindness in man is :
(a) sex-linked character (b) sex influenced character
(c) sex-limited character (d) sexual character
13. Sex-linked characters are :
(a) dominant (b) recessive (c) lethal (d) not inherited
14. Which gene is present in the Y chromosome that codes for the protein TDF ?
(a) Cry (b) Sry (c) Try (d) tra
15. In birds, which type of chromosomal basis of sex determination is present ?
(a) XX - XY (b) ZW - ZZ (c) XX - XO (d) ZZ- ZO
16. When the ratio of X/A = 0.67 in genic balance theory, which type of sex is expressed ?
(a) super female (b) super male (c) intersex (d) triploid female
17. Which type of sex determination is found Bonellia ?
(a) temperature dependent (b) holandric
(b) chemotacic (d) pseudoautosomal
18. In a person with Turner syndrome, the number of X chromosome is :
(a) 1 (b) 3 (c) 2 (d) 0
19. A Down syndrome will be :
(a) 45 + XX (b) 44 + XXY (c) 44 + XY (d) 22 + XY
20. Number of Barr bodies present in Turner syndrome is :
(a) 0 (b) 2 (c) 1 (d) b or c
( 17 )
( 16 )
Clinical Symptoms :
Short stature with low-set ears.
Webbed neck.
Shield-like chest
Swollen hands and feet
Virtually no ovaries
Limited secondary sexual characters.
Diagnosis, Treatment and Prevention :
Diagnosis is done by physical examination and genetic analysis Turner syndrome affected subjects
undergo hormonal therapy.
Growth hormone injection in early childhood may increase the height by few inches.
Estrogen replacement therapy is undertaken at puberty to start the breast development.
Estrogen and progesterone are administered together, a little later to initiate the monthly cycle.
Turner syndrome affected persons have a shorter life expectancy.
IV. Klinefelter Syndrome :
Klinefelter syndrome is an abnormal genetic condition, caused by the presence of an extra X chromo-
some in addition to the usual male sex chromosome complement of XY.
Thus the diploid chromosome number becomes 47 with XXY sex chromosome complement.
This condition was first described by H.F. Klinefelter in 1942. It is estimated to occur in 1 in 500 livemale
births.
Genetic Basis :
The condition is due to the presence ofan extra X chromosome in the male.
The XXY condition pressumably arises at fertilization of an exceptional egg (XX) by a Y-sperm or an
X-egg by an exceptional XY sperm.
The exceptional eggs and sperms are the outcome of primary nondisjuction of X and Y chromosomes
during maturation phase of gametogenesis.
Studies in Turner syndrome and Kilnefelter syndrome indicate that, the Y chromosome is essential
for the expression of maleness.
The usual karyotype is 47, XXY, while more complex karyotypes, such as XXXY, XXXXY, XXXXXY,
XXYY, XXXXYY are also associated with Klinefelter syndrome.
The frequency of occurrence is 1 in 500 male births.
The syndrome is diagnosed by a chromosome complement examination.
There is no treatment option.
It can be prevented through education and genetic counseling by a trained clinical geneticist.
( 15 )
Genetic Basis :
It is caused by a chromosomal aberration, known as aneuploidy (trisomy).
The twenty first chromosomes is present in three doses, instead of two in normal persons.
Thus the diploid chromosome number becomes 47, instead of normal 46.
It is the result of primary nondisjuction (failure of separation of homologous chromosomes),
which may occur at first meiosis or second meiosis of the maturation phase of gametogenesis.
The consequence is thatthe egg or sperm receives an extra 21st chromosome.
If this egg is fertilized by a normal sperm and vice versa, the zygote nucleus will have 47 chromo-
somes with an extra 21st chromosome.
This zygote develops into a baby expressing the sysmptoms of Down syndrome.
Through the investigations of J. Lejeune in 1959, Down sysndrome was recongnized as the first
genetic disorder in human. It is also identified as trisomy 21.
Clinical symptoms :
Short stature with an epicanthal fold.
Broad head with round face.
Wide nostril, open mouth and large tongue with distinct furrows.
Stubby hands with simian crease on the palm.
Hyperflexible joints.
Mental retardation.
Diagnosis, Treatment and Prevention :
Prenatal screening of the pregnant women is undertaken by ultrasonography and amniocentesis
sampling to make sure aboutthe contraction of this disorder.
There is no treatment available as yet. However, counseling through education support and creation
of sheltered work environment works encouragingly.
Life expectany is 50-60 years.
[Link] Syndrome :
Turner syndrome is a condition, in which a female is missing one of the two X chromosomes, such that
the compiment becomes 45, XO.
This condition is associated with many abnormal phenotypes, first described by H.H. Turner in 1938.
It occurs in about 1 per 2500 live female births. More than 90% of the women bearing fetus affected by
Truner syndrome abort spontaneously.
An approximate frequency estimate in the human population is 1/5000.
Ganetic Basis :
It is caused by a chromosomal aberration, known as aneuploidy (monosomy).
In the female, one out of two X chromosomes is missing.
Thus, the chromosomal number is 45 instead of normal 46.
It is the result of primary nondisjunction, which may occur in one of the two meiotic divisions of the
maturation phase of gametogenesis.
The consequence is the formation of an egg with two X chromosomes and another with no X
crhomosome.
If the later one is fertilized by a normal sperm bearing an X chromosome, the complement becomes
45, X and Turner syndrome expresses.
( 14 )
Normal genes encode normal proteins, which regulate normal physiological functions of the body.
When a gene undergoes mutation, it encodes an abnormal protein, which fails to regulate the body function,
it is meant for.
In this situation, the abnormal body functions express some abnormal phenotypic characters.
The expression of these characters has been referred to as a genetic disorder or syndrome.
Most of the human disorders are inherited in simple mendelian fasion.
I. THALASSEMIA :
Thalassemia is an inherited blood disorder, in which the body makes an abnormal form of haemoglobin.
The disease is prevalent in Asia, Middle-East, Africa and Mediterranian countries like Greece and Turkey.
There are three forms of thalassemia : (a) -thalassemia, controlled by chromosome 16
(b) -thalassemia, controlled by chromosome 11
(c) thalassemia minor
-thalassemia is again of two types : i. haemoglobin H disease and
ii. Hydrops Fetalis.
Hydrops Fetalis is the more severe from.
It is expressed, when all the four globin genes are mutated.
Most babies afflicated with this form are either stillborn or die shortly after birth.
Haemoglobin H disease is expressed, when three out of four -globin genes are mutated. -thalassemia
is expressed when the body cannot produce -globin.
It has two sub-types : i. thalassemia major (Cooley's anemia) and
ii. thalassemia intermedia.
Thalassemia major is more severe and is expressed when two -globin genes are mutated or absent,
while thalassemia intermedia is less severe.
Symptoms, Diagnosis and Treatment :
The common symptoms are : feeling of tireness, pale skin with severe anemia, enlarged spleen,
yellowish skin and dark urine.
The disease is diagnosed by blood test and genetic analysis.
There are two treatment options : (a) blood transfusion and
(b) bone marrow transplantation.
However, genetic counseling of the affected person makes him/her conscious about the conse-
quences.
He/she advised to take recourses to an appropriate treatment option.
II. DOWN SYSNDROM :
The most common and best characterized genetic disorder in human population is Down sysndrome.
It was previously indentified as mongolism due to a short stature of the affected persons.
John Langdon Down first described the clinical symptoms in 1866. In his honour, the syndrome has
been named as Down syndrome.
The estimated frequency at birth is 1/700.
( 13 )
( 12 )
Example: In human females the genes for haemophilia in a homozygous state, muscular atrophy.
Sex-influenced genes
Some traits have their genes on autosomes but are influenced by the sex.
Example: Baldness in man [gene for baldness behave as an autosomal dominant in males and autosomal
recessive in females]
Sex limited genes :
Though these genes are present in both the sex, but they are expressed only in a particular sex, but not in both
sexes.
Example: Development of beard in men, genes masculine voice, masculine body, gene for brilliant plumage of
male peacock.
( 11 )
Similarly there is a 50% chance at each birth that a daughter will carry defective recessive haemophilia
gene.
Case - I. Normal woman marries a Haemophilic man :
When a normal woman marries a haemophilic man, all the sons will be normal and all daughters will
be carrier.
( 10 )
Case - V (Colourblind Man and Colourblind Woman) :
When both man and woman are colourblind all their offsprings suffer from colourblindness.
ii. HAEMOPHILIA
Haemohilia or the "royal disease" is the most notorious of all sex-linked diseases.
It is also commonly called as "bleeder's disease" as the person suffering from this disease (haemophilics)
bleed for a very long period (from 1/2 an hours to 22 hours or more) without coagulation of blood on receiving a
minor injury.
Thus, the haemophilics one in constant danger of death from excessive bleeding.
A statistical analysis reveals that the frequency of haemophilic male birth is about only 1 in 10,000 and the
frequency of homozygous female birth is about only 1 in 100,000,000.
This reveals that haemophilia in females is very rare compared to their male counter parts.
A girl with severe bleeding dies before adolescence.
CHARACTERISTICS
Haemophilia is an X-linked recessive disorder characterised by the inability to properly form blood clots.
Any small cut or internal haemorrhaging after even a small bruise is fatal.
This is, therefore, also is known as bleeder’s disease.
The concerned gene is called antihaemophillic globulin (AHG) gene. It suppresses the synthesis of factor
VIII, IX or XI.
In 1803 Dr. John Edward Otto recognised its hereditary nature.
TYPES OF HAEMOPHILIA
There are three disorders listed as haemophilia :
1. Haemophilia A. Factor VIII deficiency, also known as Classic haemophilla (X-linked recessive).
2. Haemophilia B. Factor IX deficiency, also known as Christmas disease (X-linked recessive).
3. Haemophilia C. Factor XI deficiency, also called Ashkenazi Jews (autosomal recessive).
Haemophilia affects males much more frequently (1 in 10,000) than females (1 in 100,000,000).
When the father is haemophiliac and the mother is unaffected, none of the sons would be haemophiliac but
all the daughters would be carriers with X chromosome carrying defective recessive gene.
When the mother carries haemophilia and the father is unaffected there is 50% chance at each birth that
a son will have haemophilia.
(9)
The gene for this defect is located on X-chromosomes and it is recessive to normal vision. It is can be
explained by following cases
Case - I Normal woman and colour blind man : When a normal woman is married to a colour blind man, their
children (daughter and sons) have normal color vision. But when their daughters (carries) are married to normal
man, 50% of their sons are colourblind and the remaining 50% are normal while the daughters are all normal.
Case - II Colour blind woman and normal man : If a colour blind woman marries a normal man their daugh- ters
carried but normal where as all the sons are colour blind. When these F1 daughters (carries) are married to colour
blind man then colour blind sons and daughters are born in equal number.
(8)
2. Temperature-dependent sex determination :
This is a type of environmental sex determination, in which the temperature experienced during embryonic
development determines the sex of the offspring.
It is most prevalent and common among reptiles, especially turtles.
In turtles, males are generally produced at lower incubation temperatures than females, with this change
occurring over a range of temperatures as little as 1 - 2°C.
At a lower temperature ranging between 22.5 and 27°C, mostly male turtles hatch, while at higher tem-
peratures, around 30°C, only female turtles hatch.
In lizards and crocodiles, this pattern is reversed.
SEX - LINKED INHERITANCE
The chromosomes present in the diploid cells of the majority of sexually reproducing animals are of two types
: autosomes bearing genes for somatic characters and sex chromosomes bearing genes for sexual character.
Sex chromsomes also carry some genes for non-sexual characters such as colour blindness and haemophilia.
Such genes which are always associated with sex chromosomes are called sex-linked genes.
In man and Drosophila the sex chromosomes (X and Y) are unequal in size and shape, X being larger and rod
shaped whereas Y is small and slightly curved.
The mode of inheritance of sex linked genes is known as sex linked inheritance.
The traits expressed due to above inheritance are called sex linked traits, which can be of 3 types.
(a) Diandric sex linked or X-linked traits :
Genes for these characters are located on non-homologous segment of X-chromosome.
Genes for such characters are transferred from father to his daughter and from his daughter to her
sons in F2 generation, this is known as cris-cross inheritance.
Example: Colour blindness and Haemophilia.
Criss Cross Inheritance :
It is a type of sex linked inheritance where a parent passes the traits to the grand child of the same sex
through offsprings of the opposite sex, that it, father passes the traits to grandson through his daughter (diagynic)
while the mother transfers traits to her grand daughter through her son (dia-andric).
It was first studied by Morgan (1910) in case of eye colour in Drosophila. Criss-Cross inheritance is
applicable to most sex-linked disorders in humans. e.g, red green colour blindness, haemophilia.
(b) Holandric or Y-linked gene or Y-Linked traits :
Genes for these chracters are located on non-homologous segment of Y-chromosome.
Example: Hypertrichosis of ears in man
(c) Incompletely sex linked or XY-linked traits :
Genes for these characters are located on the homologous segments of X and Y chromosomes called
pseudoautosomal genes.
Example: Total blindness, Nephritis.
SEX-LINKED INHERITANCEINHUMAN
In man about fifty sex-lined genes, the most common example are :
i. Red-green colour blindness
ii. Haemophilia
i. Red - green colour blindness :
The persons suffering from red green colour blindness can not distinguish between red and green colour.
(7)
Free Martin :
In cattle when the twins of the opposite sex are born, the male is normal but the female is sterile with many
male characteristic features. Such sterile females are called free martin.
During the development, fetal membranes of the twins have a common blood circulation.
The female hormones are produced a little later than the male hormones. The male hormones influence
the female fetus to become sterile.
ENVIRONMENTAL FACTORS IN SEX DETERMINATION:
1. Chemotactic sex determination :
In some animals, the environment plays an important role in the differentiation of sex or in the expression
of genes encoding male and female characters.
In a worm (Bonnellia), the larvae are potentially hermaphrodite.
If a newly hatched worm is reared from a single egg in isolation, it develops as a female.
If newly hatched larvae are reared in water containing mature females, some larvae adhear to the probos-
cis.
These are transformed into males, which eventually migrate into the reproductive tract, where they be-
come parasitic.
It has been established that the proboscis of the mature female Bonellia secretes a chemotactic substance,
which induces the larve to differentiate as males.
(6)
SINGLEGENEEFFECT:
ln some organisms like Drosophila, human and several fishes, a single gene is responsible for the expression of
sex.
In Drosophila tra (tansformer), a recessive gene, present on the third autosome expresses the sex.
Most males and females with dominant allele (tra+) are fertile.
But a normal female (AA + XX) when homozygous recessive with both tra alleles develop as sterile male.
In human a sry (sex determining region Y), present on the Y chromosome influences the development of testes
in the male and its absence develops ovaries in the female.
Therefore , XX female with sry gene is a sterile female and a XY male without sry gene too a sterile female.
ROLE OF SEX DIFFERENTIATION IN SEX DETERMINATION :
The chromosome theory and genic balance theory of sex determination successfully apply to lower grade
animals but in vertebrates and under certain conditions, in invertebrates, an embryo develops some characters of the
opposite sex together with its own characters.
It means that the sex changes under specific conditions.
This may be due to hormones secreted by the gonads of the animal.
Some examples of sex differentiation are as discussed below :
Sex Reversal :
It is observed in fishes, amphibians, birds and even in some mammals.
Artificial removal of gonads of either sex before puberty in mammals and even in human (castration or
ovariectomy) results in the development of secondary sexual characters of the opposite sex reversal in chick.
(5)
v. Haploid - Diploid :
It is found in insects like bees and wasp etc. Where the diploid is female and the male is haploid. So the male
and the female gametes forms the female child after fertilization. Where as the female gamete which does not under go
fertilization develops parthernogenetically into male.
2. 2A + XX 2 / 2 = 1.0 Female
4. 3A + XX 2 / 3 = 0.67 Intersex
5. 2A + XY 1 / 2 = 0.50 Male
(4)
Thus the type of sperm fertilizing the egg determines the sex of the organism.
In case of Drosophila :
Male: 2 × 3 + XY = 6 + XY Female: 2 × 3 + XX = 6 + XX
ii. ZW - ZZ type :
In reptiles and birds female is heterogametic having dissimilar Z and W chromosomes whereas the male is
homogametic having similar ZZ chromosomes.
Female produce 2 types of ova (A + Z) and (A + W).
The male produce only one type of sperm (A + Z).
The sex of offspring depends on the kind of egg.
iii. XX - XO type
It is found in round worms and some insects (true bugs, grasshoppers and cockroaches).
In this case the females have 2 sex chromosomes X and X, while the males have only one sex hormones, X
and there is no second sex chromosomes in male.
So, males are designated as XO and heterogametic producing 2 types of gametes i.e. (A + X) and (A + O).
But the females are homogametic producing only one type of egg i.e. A + X.
iv. ZO - ZZ type :
This type of sex determination is found in certain moth and butterflies.
Here females are with one sex chromosomes (AA + Z) and males have 2 hoomorphic sex chromosomes (AA
+ ZZ)
(3)
Example :
A normal woman has two X chromosomes and one Barr body
A woman with Turner’s syndrome, has one X-chromosomes and no Barr body.
A super female with three X-chromosomes has two barr bodies.
A normal males with one X-chromosome have no Barr body, but males with Klinefelter’s syndrome (XXY) have one
Barr body.
SEX DETERMINATION :
Several genetically controlled sex determination mechanisms have been discovered. These are :
1. Chromosomal mechanism
2. Haplo-diploid mechanism (a variant of chromosomal mechanism)
3. Genic balance mechanism
4. Single gene effect
1. CHROMOSOMAL MECHANISM OF SEX DETERMINATION :
In majority of diploid animals a pair of sex chromosomes, designated as X and Y is found, which determine the sex of
an individual.
Henking(1891) discovered X-chromosome in male bug and described it as X-body.
Wilson and Stevens (1902-1905), proposed chromosomal theory of sex-determination and named X and Y chromo-
somes as sex chromosomes or allosomes and other chromosomes as autosomes.
In the animal kingdom many variants of chromosomal sex determination mechanisms have been described. These
are : i. XX-XY mechanism
ii. XX-XO mechanism
iii. ZZ-ZW mechanism
iv. ZZ-ZO mechanism
v. Haplo-Diploidy mechanism
i. XX - XY type or Lygaeus Mechanism :
This type of sex mechanism is found in Drosophila and majority of mammals including human beings.
Human beings have 22 pair of autosomes and one pair of sex chromosomes.
In this type the female is homogametic XX and male is heterogametic (XY) consisting of dissimilar
chromosomes X and Y.
The females produce gametes which are all of one type having X-Chromosomes.
Males produce 2 types of sperms, 50% with X-Chromosome and remaining 50% with Y-Chromosome.
(2)
INTRODUCTION:
Biologically, sex is an aggregate of those morphological, physiological and behavioural characters, whcih differentiate the
male from the female.
Most organisms that produce their offsprings using sexual reproduction have to sexes.
Occasionally, there are hermaphrodites in place of one or both sexes.
There are also some species that have only one sex and reproduce by parthenogenesis, in which the female reproduces
without fertilization.
Sex determination occurs in three steps :(a) Chromosomal sex determination by sex chromosomes
(b) Gonadal sex determination by differentiation of gonads
(c) Phenotypic sex determination by sex hormones secreted from the
gonads
In many species, sex determination is genetic : males and females have different sex chromosomes, bearing genes which
express their sexual morphology.
In some other cases, the sex is determined by environmental factors such as temperature and hormones, irrespective of
the sex chromosome combination, which they possess.
SEX CHROMOSOMES & AUTOSOMES :
In the process of evolution, the genes responsible for sex determination segregated to specific chromosomes, the sex
chromosomes or allosomes. These chromosomes are designated as 'X' and 'Y' or 'Z' and 'W'.
Such chromosomes are morphologically distinguished from each other.
The remaining chromosome of the cell are known as autosomes and designated as 'A'.
The X and Y chromosomes differ from each other in many respects.
They are heteromorphic and this is due to the location of sex determining genes on the respective sex chromosomes.
The individual, where the sex is determined by two similar sex chromosomes is known as homogametic or homomorphic
producing similar type of gametes.
Conversely, when the sex is determine by two dissimilar chromosomes, the individual is heterogametic or heteromorphic
producing dissimilar types of gametes.
Despite the differences in shape and size, the homologus part of Y chromosome pairs with X chromosome during meiosis.
The non homologous part of Y chromosome carries only Y-linked genes or holoandric genes.
The Y chromosome carries a gene 'sry' (sex determining region Y) that codes for a protein called testis determining
factor (TDF).
TDF is required for the development and differentiation of the testis and its duct system and its absence leads to the
development of ovaries.
Geneticists believed that a compensation mechanism might be operating for making the dose of genes on X chromo-
somes equal in both male and female sexes.
Mary F Lyon, indeed established that the compensation is achieved by the inactivation of one of the two X chromo-
somes in the female. He termed it as dosage compensation.
Murrary L. Barr 1st observed this in the nerve cell of the female cat.
The inactivated X chromosomes is termed as the Barr body.
SIGNIFICANCE OF BARR BODIES :
1. Barr bodies are used to determine the sex of unborn embryo.
2. The sex is determined by the presence or absence of Barr bodies in epithelial cells of embryo present in the amniotic fluid
sample.
3. Barr bodies are also used to decide the genetic constitution of such person who have irregular number of sex chromo-
somes.
(1)