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SYLLABUS
Heredity and variation: Mendelian inheritance; deviations from Mendelism – incomplete dominance, co-
dominance, multiple alleles and inheritance of blood groups, pleiotropy; elementary idea of polygenic
inheritance; chromosome theory of inheritance; chromosomes and genes; Sex determination - in humans, birds and
honey bee; linkage and crossing over; sex linked inheritance - haemophilia, colour blindness; Mendelian disorders
in humans - thalassemia; chromosomal disorders in humans; Down's syndrome, Turner's and Klinefelter's
syndromes.
IMPORTANT TOPICS FOR CHAPTER 5
Dihybrid Cross with Law of independent assortment, Sickle Cell anemia, differences between Hemophilia &
thalassemia, colour blindness, pleiotropy (phenylketonuria), polygenic inheritance, sex determination in honey
bee, test cross, exceptions of Mendelism (Incomplete dominance & Multiple allelism/co dominance with Blood group
examples), all three syndromes, mutation, Thomas Hunt Morgan experiment, Pedigree analysis.
YEAR 2010
1. How does a test-cross help in identifying the genotype of the organism? Explain.
Ans - In a typical test cross an organism showing a dominant phenotype (and whose genotype is to be determined)
is crossed with the recessive parent. The progenies of the cross are analysed to predict the genotype of the
test organism. E.g., following is a test cross where violet colour flower of pea (W) is dominant over white
colour flower (w).
During his studies on genes in Drosophila that were sex-linked. T.H. Morgan found F2 population phenotypic
ratios deviated from expected 9 : 3 : 3 : 1. Explain the conclusionhe arrived at.
Ans –
(i) T. H. Morgan carried out several dihybrid crosses in Drosophila to study the genes that are sex-linked. He
observed that when the two genes in a dihybrid cross are located on the same chromosome, the proportion of
parental gene combinations in the progeny was muchhigher than the non-parental or recombination of genes.
(ii) Morgan and his group found that when genes were grouped on the same chromosome, some genes are
tightly linked and show low recombination.
(iii) When the genes are loosely linked they show higher recombination.
(iv) Morgan hybridised yellow bodied and white eyed females with brown bodied and red eyed males (wild
type) (cross-A) and inter-crossed their F1 progeny.
(ii) Two chromosomal aberration-associated disorders are Down’s syndrome and Klinefelter’ssyndrome.
(iii) (a) Down’s syndrome: The individuals have overall masculine development but theyexpress feminine
development like development of breast, i.e., gynaecomastia. They aresterile.
(b) Klinefelter’s syndrome: The females are sterile as ovaries are rudimentary. Other secondary sexual characters
are also lacking.
3. Explain the causes, inheritance pattern and symptoms of any two Mendelian genetic disorders.
Ans - Haemophilia
(i) It is a sex-linked recessive disorder.
(ii) Patient continues to bleed even on a minor cut as the patient does not possess natural phenomenon of blood
clotting.
(iii) The gene for haemophilia is located on X-chromosome.
(iv) So more males suffer from haemophilia than females because in males single gene for the defect is able
to express.
Shayar Singh, PGT – Biology Kendriya Vidyalaya, Khargone
CBSE 10 Years+Diagrams+Important Topics+Syllabus Chapter 5 XII Biology
(v) The defective alleles produce non-functional protein which later form a non-functional cascade of protein
involving in blood clotting.
(vi) Females suffer from this disease only in homozygous condition, i.e., XcXc .
Sickle-cell Anaemia
(i) It is an autosomal linked recessive trait.
(ii) The disease is controlled by a single pair of allele HbA and HbS .
(iii) Only the homozygous individuals for Hb S, i.e., HbSHbS show the diseased phenotype.
(iv) The heterozygous individual are carriers (HbAHbS ).
(v) Due to point mutation Glutamic acid (Glu) is replaced by Valine (Val) at sixth positions of
beta globin chain of haemoglobin molecule.
(vi) HbS behaves as normal haemoglobin except under oxygen stress where erythrocytes lose their circular
shape and become sickle-shaped. As a result, the cells cannot pass through narrow capillaries. Blood capillaries
are clogged and thus affects blood supply to different organs.
4. Why are F2 phenotypic and genotypic ratios same in a cross between red-flowered snapdragon and
white-flowered snapdragon plants. Explain with the help of a cross.
Ans – This is a case of Mendelian deviation and inheritance that shows incomplete dominance as red and white
colour traits both are not expressed and produce pink trait in F1 generation.
5. Write the symptoms of haemophilia and sickle-cell anaemia in humans. Explain how the inheritance
pattern of the two diseases differs from each other.
Ans - Symptoms of Haemophilia.
(i) Patient continues to bleed even on a minor cut as the patient does not possess natural phenomenon of
blood clotting.
Symptoms of Sickle-cell Anaemia.
(i) HbS behaves as normal haemoglobin except under oxygen stress where erythrocytes lose their circular shape
and become sickle-shaped. As a result, the cells cannot pass through
narrow capillaries. Blood capillaries are clogged and thus affects blood supply to different organs
Differences between Haemophilia and Sickle-cell Anaemia.
6. Name one autosomal dominant and one autosomal recessive Mendelian disorder inhumans.
Ans -Huntington’s disease is an autosomal dominant disorder and Haemophilia is an autosomalrecessive disorder.
7. (i) Why are grasshopper and Drosophila said to show male heterogamity? Explain.
(ii) Explain female heterogamity with the help of an example.
Ans –
(i) Drosophila exhibit XY type of sex determination. Males produce two types of sperms, one having X
chromosome and one having Y chromsome. Whereas females have only X- type of chromosomes.
Grasshoppers exhibit XO type of sex determination. Males produce two types of gametes, one with X
chromosome and other with no chromosome. Thus, bothshow male heterogamety.
(ii) Female heterogamety can be seen in female birds. In these, the females have one Z and one W
chromosome whereas males have a pair of Z-chromosomes besides the autosomes.
8. (a) State the law of independent assortment.
(b) Using Punnett Square demonstrate the law of independent assortment in a dihybrid cross involving
two heterozygous parents.
Ans –
(a) Law of Independent Assortment
According to this law the two factors of each character assort or separate out independent of the factors of
other characters at the time of gamete formation and get randomly rearranged in the offsprings producing
both parental and new combinations of characters.
9. Write the genotype of (i) an individual who is carrier of sickle cell anaemia gene but apparently
unaffected, and (ii) an individual affected with the disease.
Ans – (i) HbAHbS and (ii) HbSHbS
10. Explain the sex determination mechanism in humans. How is it different in birds?
Ans – In humans XY type of sex determination is seen. Both males and females have equal number of
chromosomes. Males have one X-chromosome and a smaller Y-chromosome. While, females have a pair of
X-chromosomes. Hence males have autosomes plus XY, while females have autosomes plus XX. This
shows male heterogamety.
In birds, female heterogamety is observed. They exhibit ZW type of sex determination. Both males and
females have equal number of chromosomes. Female birds has one Z and one W chromosomes whereas
males have a pair of Z-chromosomes beside the autosomes.
11. A human being suffering from Down’s Syndrome shows trisomy of 21st chromosome. Mention the
cause of this chromosomal abnormality.
Ans - Due to non-disjunction, 21st pair of chromosomes fail to separate during oogenesis.
Therefore, the egg possesses 24 chromosomes instead of 23. When the egg fuses with a sperm, the zygote
will have three copies of chromosome 21 causing trisomy.
12. Explain the mechanism of sex determination in insects like Drosophila and grasshopper.
Ans - In grasshopper, the mechanism of sex determination is of the XO type. In females, the eggs bear a pair of X
chromosomes along with the autosomes. On the other hand, there are two
types of sperms formed in males–one having a X chromosome and other having nochromosome.
YEAR 2011
13. Describe the mechanism of pattern of inheritance of ABO blood groups in humans. Ans – Human blood
group is determined by glycoprotein/antigen A and glycoprotein/antigen B. The alleles are IA, IB and i. Hence,
referred to as multiple allelism. The individual inherits any two of them as given below.
IAIA, IAi - A group IBIB, IBi -B group
IAIB -AB group
ii - O group
In the case of A, B and O groups, Law of dominance is the pattern of inheritance as IA and IB are dominant over i.
In AB group both the alleles IA and IB express themselves. Thus, it is the case ofco-dominance.
14. (a) Why is haemophilia generally observed in human males? Explain the conditions under which a
human female can be haemophilic.
(b) A pregnant human female was advised to undergo M.T.P. It was diagnosed by her doctor that the
foetus she is carrying has developed from a zygote formed by an XX egg fertilised by Y-carrying sperms.
Why was she advised to undergo M.T.P.?
Ans – (a) Haemophilia is caused due to the recessive gene on X-chromosome. Y has no allele for this. If a male is
XhY, then he is haemophilic. If male inherits Xh from the mother, he will be haemophilic (with the genotype XhY).
If female inherits XhXh, one from the carrier mother and one from her haemophilic father, then she can be
haemophilic.
(b) Embryo has (trisomy of sex chromosome) XXY karyotype or Klinefelter’s syndrome. She was advised to
undergo MTP since the child will have the following problems:
(i) male with feminine traits
(ii) gynaecomastia
(iii) underdeveloped testes
(iv) sterile
Shayar Singh, PGT – Biology Kendriya Vidyalaya, Khargone
CBSE 10 Years+Diagrams+Important Topics+Syllabus Chapter 5 XII Biology
The codon for the sixth amino acid is GAG. The sixth codon GAG mutates to GAA as a result of mutation
‘A’ and into GUG as a result of mutation ‘B’. Haemoglobin structure did not change as a result of
mutation ‘A’ whereas haemoglobin structure changed because of mutation ‘B’ leading to sickle shaped
RBCs. Explain giving reasons how could mutation ‘B’ change the haemoglobin structure and not
mutation ‘A’.
Ans – Due to mutation ‘A’, GAG mutates to GAA. Both GAG and GAA code for glutamic acid and hence there is no
change in RBCs. Whereas GUG formed due to mutation ‘B’ codes for valine and so the RBCs become sickle-
shaped.
16. (a) A true breeding homozygous pea plant with green pods and axial flowers as dominant characters,
is crossed with a recessive homozygous pea plant with yellow pods and terminal flowers. Work out
the cross up to F2 generation giving the phenotypic ratios of F1 and F2 generation respectively.
(c) State the Mendelian principle which can be derived from such a cross and not from monohybrid
cross.
Ans – (a)
(b) From the above cross law of independent assortment can be derived which states that when two pairs of traits
are combined in a hybrid, segregation of one pair of character is independentof the other pair of characters.
YEAR 2012
17. A garden pea plant produced axial white flowers. Another of the same species produced terminal violet
flowers. Identify the dominant traits.
Ans - Axial, violet flower.
18. (a) Explain the phenomena of multiple allelism and co-dominance taking ABO bloodgroup as an
example.
(b) What is the phenotype of the following:
(i) IAi (ii) i i
Ans –
(a) Multiple allelism is the phenomenon of occurrence of a gene in more than two allelic forms on the same
locus. In ABO blood group in humans one gene I has three alleles IA, IBand IO/i.
Co-dominance is the phenomena in which both alleles express themselves when present together. We
inherit any two alleles for the blood group. When the genotype is IAIB the individual has AB blood group
since both IA and IB equally influence the formation of antigens A and B.
Shayar Singh, PGT – Biology Kendriya Vidyalaya, Khargone
CBSE 10 Years+Diagrams+Important Topics+Syllabus Chapter 5 XII Biology
(b) Law of Dominance: In a contrasting pair of factors one member of the pair dominates (dominant) the
other (recessive).
Law of Segregation: Factors or allele of pair segment from each other such that gamete receives only one
of the two factors.
(c) Phenotypic ratio of F2 in monohybrid cross is 3 : 1 whereas in a dihybrid cross the phenotypic ratio is
9 : 3 : 3 : 1.
20. Name the respective pattern of inheritance where F1 phenotype
(a) does not resemble either of the two parents and is in between the two.
(b) resembles only one of the two parents.
Ans – (a) Incomplete dominance.
(b) Dominance (law).
21. In a 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?
Ans – When the genes are linked.
22. (a) A garden pea plant bearing terminal, violet flowers, when crossed with another pea plant bearing
axial, violet flowers, produced axial, violet flower and axial, white flowers in the ratio of 3 : 1. Work out
the cross showing the genotypes of the parent peaplants and their progeny.
(b) Name and state the law that can be derived from this cross and not from amonohybrid cross.
Ans – (a)
(b) Law of Independent Assortment- The law states that when two pairs of traits are combined in a hybrid,
segregation of one pair of characters is independent of the otherpair of character.
Shayar Singh, PGT – Biology Kendriya Vidyalaya, Khargone
CBSE 10 Years+Diagrams+Important Topics+Syllabus Chapter 5 XII Biology
YEAR 2013
23. 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 howthis is possible.
Ans –
24. Why are human females rarely haemophilic? Explain. How do haemophilic patientssuffer?
Ans – Haemophilia is a sex-linked recessive disorder. The females haves XX chromosomes and the males have XY
chromosomes. If one of the two X chromosomes is normal, she remains a carrier and not diseased. Females will
haemophilic only when both the X chromosomes carry the haemophilia gene and this is possible only when the
mother is a carrier and fatheris haemophilic.
Non-stop bleeding and no clotting.
25. (a) Explain the mechanism of sex-determination in humans.
(b) Differentiate between male heterogamety and female heterogamety with the help of an example of
each.
Ans –
(a) In humans, females have two sex chromosomes, XX, and males also have two sex chromosomes, XY. The
females produce only one kind of gamete or ovum, i.e., X but the males produce two kinds of gametes, i.e., X
and Y. The ovum has equal chances (50% each) of getting fertilised by either an X sperm or a Y sperm,
resulting in XX female and XY malerespectively.
(b)
26. In a typical monohybrid cross the F2 population ratio is written as 3:1 for phenotype but expressed as
1:2:1 for genotype. Explain with the help of an example.
Ans – For example, in garden pea.
Monohybrid cross of true-breeding pea plant
27. Work out a cross to find the genotype of a tall pea plant. Name the type of cross.
Ans –
Ans –
35. (a) Why are thalassemia and haemophilia categorized as Mendelian disorders? Write the symptoms of
these diseases .Explain their pattern of inheritance in humans.
(b) Write the genotypes of the normal parents producing a hemophilic son.
Ans – (a) Both are caused due to alteration/mutation, in a single gene and follow Mendelian pattern of
inheritance.
Symptoms
thalassemia -anaemia (caused due to defective/abnormal Hb),haemophilia -non stop bleeding even in minor
injury = ½ ×2 Pattern of inheritance
Thalassemia - autosomal recessive inheritance pattern, inherited fromheterozygous/parent carrier
Haemophilia- X linked recessive inheritance, inherited from a haemophilic father/carrier Mother (females are rarely
haemophilic)
(b) Xh X-Mother and XY-Father
36. Two independent monohybrid crosses were carried out involving a tall pea plant with a dwarf pea plant.
In the first cross, the offspring population had equal number of tall and dwarf plants, whereas in the
second cross it was different .Work out the crosses,and explain giving reasons for the difference in the
offspring populations.
Ans –
Reason- In the first cross the tall parent plant is heterozygous for the trait , in second cross tall parent plant is
homozygous for the trait.
37. (a) Why are colourblindness and thalassemia categorised as Mendelian disorders? Write the
symptoms of these diseases seen in people suffering from them.
(b) About 8% of human male population suffers from colourblindness whereas only about 0.4% of human
female population suffers from this disease. Write an explanationto show how it is possible.
Ans – (a) Both are caused due to mutation /alteration in a single gene, and follow Mendelianinheritance.
colour blindness -unable to discriminate between red and green colours. Thalassemia -
(formation of abnormal haemoglobin resulting in) Anaemia.
(b) It is due to a recessive mutation in the X chromosomes.
Males have only one X chromosome and females have two , female will be colour blind only in a homozygous
recessive state/ both X chromosomes carry the defective gene/ Xc Xc , whereas male will be colour blind if they
are XcY/ heterozygous.
38. The F2 progeny of a monohybrid cross showed phenotypic and genotypic ratio as 1:2:1, unlike that of
Mendel’s monohybrid F2 ratio. With the help of suitable example, work out a cross and explain how it is
possible.
Ans – Mirabilis jalapa / four O’ clock plant / Antirrhinum (majus)/ Snapdragon flower /dogflower
In heterozygous condition a single dominant gene is not sufficient to produce red colour, therefore it is a
case of incomplete dominance.
39. (a) How are Mendelian inheritance, polygenic inheritance and pleiotropy different fromeach other ?
(b) Explain polygenic inheritance pattern with help of suitable example.
Ans – (a)
(b) Human Height/skin colour are examples of polygenic inheritance, height trait is controlled by at least three gene
pairs, additive effect of each allele contributes to the phenotypic expression of the trait, more the dominant alleles
more pronounced is the phenotypic expression /more the recessive alleles less pronounced is the phenotypic
expression.
YEAR 2016
40. What is a test cross ? How can it decipher the heterozygosity of a plant ?
Ans - A cross to analyse whether genotype of dominant individual is homozygous orheterozygous.
- On crossing with a recessive parent, if 50% of progeny have dominant trait and 50% have recessive trait then
the plant is said to be heterozygous.
41. (a) What is polygenic inheritance ? Explain with the help of a suitable example.
(b) How are pleiotropy and Mendelian pattern of inheritance different from polygenicpattern of inheritance ?
Ans - (a) Inheritance in which traits are controlled by three or more genes , eg human skin colour
/ height , the inheritance depends upon the additive / cumulative effect of allelles , more the number of
dominant allelles the expression of the trait will be more distinct / prominent , more the number of recessive
allelles the trait will be diluted , if member of dominant and recessive allelles are equal the effect is
intermediate.
(b) Single gene controls multiple phenotypic expression (Pleiotropy) , one gene controls one phenotypic
expression (Mendelian).
YEAR 2017
42. Name the type of cross that would help to find the genotype of a pea plant bearing violetflowers.
Ans –Test cross.
43. Both Haemophilia and Thalassemia are blood related disorders in humans. Write their causes and the
difference between the two. Name the category of genetic disorder they both come under.
Ans –
Mendelian disorder.
Shayar Singh, PGT – Biology Kendriya Vidyalaya, Khargone
CBSE 10 Years+Diagrams+Important Topics+Syllabus Chapter 5 XII Biology
YEAR 2018
44. Explain the mechanism of ‘sex determination’ in birds. How does it differ from that ofhuman beings?
Ans – In birds ;
Birds : female heterogamety / female produces (Z) type and (W) type of Gametes. Humans : male
heterogamety / male produces (X) type and (Y) type of Gametes.
45. (a) 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.
(b) How did Sturtevant explain gene mapping while working with Morgan ?
Ans - (a) Drosophila melanogaster.
They observed that two genes (located closely on a chromosome) did not segregate independently of each other
(F2 ratio deviated significantly from 9 : 3 : 3 : 1).
Tightly linked genes tend to show fewer (lesser) recombinant frequency of parental traits / show higher (more)
frequency of parental type.
Loosely linked genes show higher percentage (more) of recombinant frequency of parental traits / lower
frequency percentage of parental type.
Genes present on same chromosome are said to be linked and the recombinant frequency depends on their
relative distance on the chromosome.
(b) He 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.
YEAR 2019
46. British geneticist R.C. Punnett developed a graphical representation of a genetic cross called “Punnett
Square”. Mention the possible result this representation predicts of the genetic cross carried.
Ans – (Probability of ) all genotypes / genotypic ratio
47. 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.Ans -
48. Name a human genetic disorder due to the following :
Ans - Individuals with abnormal number of chromosomes / Down’s Syndrome / Turner’s Syndrome / Klinefelter’s
Syndrome (or any other correct example)
50. Differentiate between Turner's syndrome and Down's syndrome.
Ans –
Contrasting Traits
7 Characters
Dominant Recessive
1. Stem height Tall Dwarf
2. Flower colour Violet White
3. Flower position Axial Terminal
4. Pod shape Inflated Constricted
5. Pod colour Green Yellow
6. Seed shape Round Wrinkled
7. Seed colour Yellow Green
Fig: A Punnett square used to understand a typical monohybrid cross conducted by Mendel between true-breeding
tall plants and true-breeding dwarf plants.
Fig: Linkage: Results of two dihybrid crosses conducted by Morgan. Cross A shows crossing between gene y and
w; Cross B shows crossing between genes w and m. Here dominant wild type alleles are represented with (+) sign in
superscript Note: The strength of linkage between y and w is higher than w and m.
Fig: Symbols used in the human Pedigree Analysis Fig: (A) Autosomal dominant trait (E.g., Myotonic
dystrophy) & (B) Autosomal recessive trait (E.g. Sickle-cell anaemia)
Fig: Micrograph of the red blood cells and the amino acid composition of the relevant portion of b-chain of
haemoglobin: (a) From a normal individual; (b) From an individual with sickle-cell anaemia