CHAPTER 5

PRINCIPLES OF INHERITANCE AND VARIATION

Allele : Various or slightly different forms of a gene, having same position on chromosomes. Phenotype : The observable or external characteristics of an organism Genotype : The genetic constitution of an organism. Monohybrid cross : A cross between two individuals of species, considering the inheritance of single pair of contrasting character e.g., a cross between pure tall (TT) and Dwarf (tt). Dihybrid cross : A cross between two individuals of a species, considering the inheritance of two pairs of contrasting traits/characters e.g., a cross between Round and Yellow (RRYY) and wrinkled and green (rryy). Incomplete dominance : When one of the two alleles of a gene is incompletely dominant over the other allele. Co dominance : When two alleles of a gene are equally dominant and express themselves even when they are together. Multiple alelism : When a gene exists in more than two allelic forms e.g., gene for blood group exist in three allelic forms, I A, IB and i. Pleiotropy : The ability of a gene to have more than one phenotypic effect. Linkage : The tendency of two or more linked genes to get inherited together. Non disjunction : The phenomenon in which the members of a homologous chromosomes do not separate during meiosis. Aneuploidy : The phenomenon of gain or loss of one or more chromosome(s), that results due to failure of separation of homologous pair of chromosomes during meiosis. Trisomy : The condition in which a particular chromosome is present in three copies in a diploid cell/ nucleus. Male heterogamety : When male produces two different types of gametes/sperms e.g., In human beings X and Y. Mutation : The sudden heritable change in the base sequence of DNA, or structure of chromosome or a change in the number of chromosomes. 33 XII Biology

Pedigree Analysis : The analysis of the distribution and movement of trait in a series of generations of a family. Henkings Observations : During spermatogenesis in insect 50% of sperms received X-body and other 50% did not receive it. X-body is now called X-Chromosome. Female Heterogamety : When female produces two different types of gametes/ova e.g., female bird produces Z and W gametes. Gregor Mendel : Worked on garden pea plant for 7 years and proposed the Laws of inheritance of factors (genes) which are responsible for traits. de Vries, Correns and Von Tschermak : Independently rediscovered Mendels results on the inheritance of characters. Walter Sutton and Theodore Boveri : Noted that the behaviour of chromosomes was parallel to the behaviour of genes. Thomas Hunt Margan : Working on Drosophila melanogaster, experimental verification of the chromosomal theory of inheritance, discovered the basis of variations in sexually reproducing organisms. Law of Dominance : When two individuals of a species differing in a pair of contrasting characters/traits are crossed, the trait that appears in the F, hybrid is dominant and the alternate from that remain hidden, is called recessive. Law of Segregation : The members of allelic pair that remained together in the parent, Segregate/ separate during gamete formation and only one of the factors enters a gamete. Law of Independent Assortment : In the inheritance of two pairs of contrasting characters, the factors of each pair of characters segregate independently of the factors of the other pair of characters. Test Cross : When offspring or individual with dominant phenotype, whose genotype is not known, is crossed with an individual who is homozygous recessive for the trait. The progeny of monohybrid test cross ratio is 1 : 1 while the dihybrid test cross ratio is 1 : 1 : 1 : 1. Mutation

Gene Mutations Point Mutation Frameshift Mutation

Chromosomal Mutations Structural variations Aneuploidy Trisomy eg. Down's Syndrome

Numerical variations Polypoidy

Monosomy eg. Turner's Syndrome

1. 2. 3. 4. 5. 6. 7. 8.

Give any two reasons for the selection of pea plants by Mendel for his experiments. Name any one plant that shows the phenomenon of incomplete dominance during the inheritance of its flower colour. What is a true-breeding line? Name the scientists who rediscovered Mendels results on the inheritance of characters. How many different phenotypes are formed in 16 squares of a Puneet Square as a result of dihybrid cross? The egg of an animal contains 10 chromosonmes, of which one is X chromosome. How many autosomes would there be in the Karyotype of this animal? Name the base change and the amino acid change, responsible for sickle cell anaemia. Name the disorder with the following chromosome complement. (i) (ii) 22 pairs of autosomes + X X Y 22 pairs of autosomes + 21st chromosome + XY.

9. 10. 11.

A haemophilic man marries a normal homozygous woman. What is the probability that their daughter will be haemophilic? The blood group of a mother and her child is O. What will be the expected blood group of her husband? A test is performed to know whether the given plant is homozygous dominant or heterozygous. Name the test and phenotypic ratio of this test for a monohybrid cross.

12. 13. 14. 15.

Identify the sex of organism as male or female in which the sex chromosome are found as (i) ZW in bird (ii) XY in Drosophila (iii) ZZ in birds. (iv) XO in grasshopper. Mention two differences between Turners syndrome and Klinefelters syndome. The human male never passes on the gene for haemophilia to his son. Why is it so? The map distance in a certain organism between gene A and B is 5 units, between B and C is 1 unit and between C and D is 10 units. Which one of these pairs will have higher probability of (i) recombination (ii) Linkage frequency. Give reason in support of your answer. Mention four reasons why Drosophila was chosen by Morgan for his experiments in genetics. You are given a tall plant. How will you find out its genotype?

16. 17.

35

XII Biology

18.

Draw the symbols used to represent the following in human pedigree analysis. (i) (ii) (iii) (iv) Mating between relatives (consanguineous mating). Parents with male child affected with disease. The child whose sex is unspecified. Mating of affected male with normal female.

19.

In the following pedigree chart state if the traits is autosomal dominant, autosomal recessive or sex linked. Give a reason for your answer.

20. 21.

The genetic disorders are broadly classified into two categories. Name these two categories also give two examples of each. Differentiate between point mutation and frameshift mutations.

23.

A woman with O blood group marries a man with AB blood group (i) (ii) work out all the possible phenotypes and genotypes of the progeny. Discuss the kind of dominance in the parents and the progeny in this case.

24. 25. 25.

With the help of schematic diagram show how in meiotic cell division, four daughter cells are formed with half the number of chromosomes. Explain the cause of Klinefelters syndrome. Give any four symptoms shown by sufferer of this syndrome. Using a Punnett Square workout a cross between Tall Plant with Yellow seeds (Tt Yy) and Tall Plant with green seeds (Tt Yy). What proportion of Phenotype in the offspring obtained would be (i) tall and green (ii) dwarf and green. In Mendels breeding experiment on garden pea, the offspring of F2 generation are obtained in the ratio of 25% pure yellow pod, 50% hybrid green pods and 25% green pods State (i) which pod colour is dominant (ii) The Phenotypes of the individuals of F1 generation. (iii) Workout the cross. 36 XII Biology

26.

27. 28.

State Mendels Principle of Independent assortment. Explain with suitable crosses, how Mendel arrived at this conclusion. Using Punnett square, trace through two generations, the details of dihybrid cross between homozygous round yellow and wrinkled green seed varieties of pea plant. (i) (ii) Give the phenotypic ratio of F2 generation. Identify the Mendelian principle which this ratio refers to.

29.

A dihybrid heterozygous round, yellow seeded garden pea (Pisum sativum) was crossed with a double recessive plant. (i) (ii) (iii) What type of cross is this? Work out the genotype and phenotype of the progeny. What principle of Mendel is illustrated through the result of this cross?

1.

(i) (ii)

Many varieties with contrasting forms of characters Can easily be cross pollinated as well as self pollinated.

2. 3. 4. 5. 6. 7. 8. 9. 10. 11.

Dog flower (Snapdragon or Antirrhinum sp.) Has undergone continuous self pollination and shows the stable trait inheritance for several generations. Hugo de Vries, Correns and Tschermak. Four phenotypes It will have 18 (9 pairs) autosomes. GAG changes GUG, Glutamic acid is substituted by valine. (i) Klinefetters Syndrome (ii) Downs syndrome

Their daughter can never be haemophilic. (0%). Any of A, B or O. Test cross 1 : 1.

12.

(i) Female;

(ii)

Male;

(iii)

Female

(iv)

Male

37

XII Biology

13.

Turners Syndrome : The individual is female and it has 45 chromosomes i.e., one X chromosome is less. Klinefelters Syndome : The individual is male and has 47 chromosomes i.e., one extra X chromosome.

14.

The gene for haemophilia is present on X chromosome. A male has only one X chromosome which he receives from his mother and Y chromosome from father. The human male passes the X chromosome to his daughters but not to the male progeny (sons). (i) (ii) Recombination : Between genes A and D as they are very far apart from each other. Linkage : between genes B and C, as they are very close to each other. Very short life cycle (2-weeks) Can be grown easily in laboratory In single mating produce a large no. of flies. Male and female show many hereditary variations It has only 4 pairs of chromosomes which are distinct in size and Shape.

15.

16.

(i) (ii) (iii) (iv) (v)

17.

By Test cross, The given plant is crossed with another homozygous recessive (divarf) plant. If the individuals of progeny are all tall then the given plant is homozygous i.e., with genotype TT, but 50% individuals Tall and 50% dwarf of progeny confirms that the given plant is heterozygous. (Tt) Refer to figure 5.13. page no. 8 of NCERT book. Autosomal dominant. Defective trait is present in both male and female progeny and the unaffected child did not pass down the trait in to next generation.

18. 19.

21. 22.

(i)

Mendelian disorders : e.g., Sickle cell anaemia, Phenyl ketonuria (ii) Chromosomal disorders e.g., Turners syndrome, Downs syndrome, Klinefelters Syndrome.

Point Mutations : Arises due to change in a single base pair of DNA e.g., sickle cell anaemia. Frame shift mutations : Deletion or insertion/duplication/addition of one or two bases in DNA.

23.

(i) (ii)

A, IB and O group has ii which on cross gives the both Bl ood group A B has al l el es as I blood groups A and B while the genotype of progeny will be IAi and IBi.

IA and IB are equally dominant (co-dominant). In multiple allelism, the gene I exists in 3 allelic forms, IA, IB and i.

24. 25.

Refer figure 5.8, page no. 81, NCERT book. Cause : Presence of an extra chromosome in male i.e., XXY. Symptoms : Development of breast, Female type pubic hair pattern, poor beard growth, under developed testes and tall stature with feminised physique.

38

XII Biology

26.

A cross between the gametes of Tall plant with yellow seeds (TY, Ty, tY, ty) and Tall with green seeds (Ty, ty), gives Tall and green in 3/8 and Dwarf and green 1/8 ratio.
Gametes Ty ty TY TTYy TtYy Ty TTyy Ttyy tY TtYy ttYy ty Ttyy ttyy

27.

(i) (ii) (iii)

Green pod colour is dominant Green pod colour Parents Gametes F1 generation Gametes F2 generation GG(green) X gg (yellow)

g
Gg (Hybrid green)

G
GG

g
Gg

X Gg

G
gg

Phenotypic ratio 3 : 1 Genotypic ratio 1 : 2 : 1

28.

Principle of Independent Assortment see text in the beginning of chapter. For cross, refer fig. 5.7, page no. 79 NCERT XII Biology.

29. 30.

As above. (i) (ii) It is a dihybrid test cross Parent Gametes

RrYy (Round Yellow)

rryy (Wrinkled green) X

rY
Ry Rryy

ry
ry rryy wrinkled, green.

F1 progeny

ry

Round and green 1 1 : : 1 1

Phenotypic ratio : Genytopic ratio :

1 1

: :

(iii)

It illustrates the Principle of independent assortment.

39

XII Biology