Chapter 27

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CHAPTER 27
PRINCIPLES OF INHERITANCE
AND VARIATION
NCERT BIOLOGICS ©
SOME IMPORTANT TERMS RELATED TO 6. Clone : These are identical genes or cells or organisms
GENETICS derived from a common precursor.
7. Character : It is the feature or a characteristic of an
1. Genetics : It is the branch of biology which deals with
organism, e. g ., flower colour, stem height.
the study of heredity and variation. Father of genetics is
Gregor Johann Mendel. The term genetics was 8. Trait : It is an inherited character and has its variant
given by Bateson. also, e. g ., violet and white are the two traits of the
character flower colour. Similarly, tallness and
2. Heredity: It is the transfer of characters from parents
dwarfness are the two traits of the character stem
to the offsprings.
height.
3. Offsprings : These are the products of reproduction.
9. Gene : It is the segment of DNA which has information
4. Siblings : These are the offsprings of the same parent
for the synthesis of a complete polypeptide chain.
at different births, e. g ., brothers and sisters.
10. Allele (= Allelomorph) : It is the alternative form
5. Twins : These are the offsprings of the same parent at
of a gene.
same birth.
11. Gene locus : It is the specific location of a gene on a
Differences between Monozygotic Twin and
Dizygotic Twin : chromosome. The alleles of a gene occupy the same
gene locus on a homologous pair of chromosomes.
Monozygotic twin Dizygotic twin
Centromere
(Maternal/Identical (Fraternal/Non-identical 1 1¢ 1 1¢ 1 1¢
twin) twin)
1. Develops from fertilization Develops by independent

of a single ovum by a single fertilization of two ova by A A A a a a
sperm. two separate sperms. Gene
2. At early stage zygote Two zygotes develop into locus
separates into two offsprings of same or Homologous
independent cells that different sex. pair of chromosomes,
develop into offsprings of each with one chromatid
same sex.
Fig. 27.1 Concept of gene locus
3. Offsprings are genetically Offsprings are genetically
identical so, are clones of non-identical so, are not 12. Dominant allele : It is that allele which can express
each other. clones of each other. both in homozygous as well as in heterozygous states.
Principles of Inheritance and Variation 857
e. g ., AA ¾® Tall expression 22. Variation : It means deviation w.r.t. morphology,

Aa ¾® Tall expression cytology, physiology, behaviour etc. among the
13. Recessive allele : It is that allele which can express individuals of same species and offsprings of the same
only in homozygous state, e. g ., parent.
aa ¾® Dwarf expression 23. Factor : Mendel proposed that the inheritance is
Aa ¾® Tall expression but no dwarf expression controlled by a pair of germinal units or factors now
14. Homozygous condition : It represents a condition known as genes/alleles.
when identical alleles of a gene is present in the
gene locus of a homologous pair of chromosomes. Pre-Mendelian Ideas about Inheritance
AA ü Pre-Mendelian ideas of inheritance are also called
e. g ., ý Homozygous condition w.r.t. (with respect theories of blending inheritance as it was believed that
aa þ
traits of parents got blended in the offspring during
to) one character transmission.
AABB,ü Evidences against Blending Inheritance

AAbb, ïï 1. Mendel crossed tall and dwarf pea varieties. The
ý Homozygous condition w.r.t. two characters hybrids were all tall. They were self pollinated. Two
aaBB, ï
type of offsprings were produced phenotypically –– Tall
aabb ïþ (TT, Tt) and dwarf (tt) showing that hybrids contain
15. Heterozygous condition : It represents a condition traits of both the parents.
when contrasting alleles of a gene is present in the 2. Children of dark and fair coloured parents should be
gene locus of a homologous pair of chromosomes. only of intermediate colour if blending inheritance is
e. g ., Aa } Heterozygous condition w. r. t. one character. true but this is not true as children are often of different
AaBB ü Heterozygous w. r. t. one character skin colours.
ý 3. Frequently characters appearing in children are not
Aabb þ and homozygous w. r. t. other character
found in immediate parents but are similar to one or
AaBb } Heterozygous w. r. t. two characters. the other grandparents. Some individuals show
16. Hemizygous condition : It represents a condition ancestral character not found in immediate parents.
where one allele of a gene or a segment of a This phenomenon is called atavism e. g ., short tail
chromosome of a homologous pair of chromosome is appear in some babies, some humans can move
absent. external ear or pinna.
e. g ., XY condition in human males.
17. Genotype : It is the gene complement or genetic MENDEL'S LAWS OF INHERITANCE
constitution of an individual w.r.t. one or more
characters whether the gene is expressed or not. 1. Gregor Johann Mendel was born on July 22, 1822. He
worked on Pisum sativum (Garden Pea) for 7 years
e. g ., AA, Aa, AaBb, AABbCC
(1856–1863) and proposed the law of inheritance in
18. Phenotype : It is the observable character of an
living organisms.
individual with regard to one or more characters which
2. Mendel demonstrated the scientific basis of inheritance
is the result of gene expression.
and variation by conducting hybridisation experiments
e. g ., AA (Tall)
on pea plant.
Aa (Tall)
aa (Dwarf) Reasons for Selection of Pea Plant by Mendel
AaBb (Tall plant with round seeds) etc. 1. It completes its life cycle in one season and produces
19. Genome : It is a complete set of chromosomes large number of flower, fruits and seeds.
found in each nucleus of a given species which contain 2. Flower show self/bud pollination thus, are true
entire genetic material. breeding.
A single genome is present in a haploid cell. 3. It is simple and easy to cross-pollinate the flowers and
Two genomes are present in a diploid cell. hybrids obtained are fertile.
Many genomes are present in a polyploid cell. 4. Pea plant has distinct contrasting/ alternative traits.
20. Gene pool : It is the sum total of all the genes and Mendel conducted cross-pollination or artificial
their alleles in any population of a particular species. pollination (Anthropophily) by using several true
21. ‘Like begets like’ : It means individuals of each breeding or pure lines of pea plant.
species breed true to their type. Thus, a guava seed
develops only into guava plant.
Note: Note: Mendel died in the year 1884 long before his work
1. A true breeding line or pure line is one that has come to be recognized. During 1900, three
undergone continuous self-pollination and show the scientists–Hugo de Vries of Holland, Carl Correns of
stable trait and expression for several generations. Germany and Von Tschermak of Austria
2. For Pisum sativum, 2n = 14 independently rediscovered the principles of
Mendel selected 7 characters with 14 true inheritance given by Mendel.
breeding or pure line pea plant varieties (i. e.,
homozygous dominant and homozygous recessive), as pairs INHERITANCE OF ONE GENE
which were similar except for one character with contrasting
1. Let us take the example of hybridisation experiment
traits. Mendel selected seven characters in pea plant to carry
carried out by Mendel where he crossed the tall and
out hybridisation experiments.
dwarf pea plants to study the inheritance of one gene.
The seven characters chosen by Mendel were actually
The study of inheritance of one gene involes
located (w.r.t. concerned genes) on four different
the study of one character.
chromosomes :
2. He collected the seeds produced as a result of cross
Chromosome
Character Dominant trait
Recessive between tall (homozygous dominant) and dwarf
Number trait (homozygous recessive) pea plants and grew them to
Flower colour Violet White generate plants of the first hybrid generation. This
1 generation is also called the Filial1 progeny or the F1 .
Seed colour Yellow Green
3. Mendel observed that all the F1 progeny plants were
Flower or Axial Terminal tall, like of the parents and none were dwarf. He made
pod position similar observations for the other pairs of traits and
4 Pod shape Inflated Constricted found that the F1 always resembled either one of the
parents and that the trait of the other parents was not
Plant height Tall Dwarf
seen in them.
5 Pod colour Green Yellow 4. Mendel then self pollinated the tall F1 plants and found
that in the F2 generation some of the offspring were
7 Seed shape Round Wrinkled dwarf, the character that was not seen in the
F1 generation was now expressed. The proportion of
Reasons for Mendel’s Success 1
plants that were dwarf were th of the F2 plants while
1. Mendel selected only true breeding or pure line pea 4
varieties. 3
th of the F2 plants were tall. The tall and dwarf traits
2. Characters chosen by Mendel had distinct contrasting 4
traits like tall and dwarf plant or round and wrinkled were identical to their parental type and did not
seeds. show any blending i. e., all the offsprings were
3. Mendel applied mathematical and statistical logic to either tall or dwarf, none were in
analyse his result. He kept complete record of every between/intermediate.
cross. 5. Similar result were obtained with the other traits that
4. Mendel did his experiment taking a number of pea he studied, only one of the parental traits, was
plants for the same trait and got large number of expressed in the F1 generation while at the F2 stage
offsprings. The large number of offsprings (i. e., large both the traits were expressed in the proportion 3:1.
sampling size) reduced the chances of error in his The contrasting traits did not show any blending at
experiments. either F1 or F2 stage. A monohybrid cross is shown
5. The experimental results were formulated in ahead:
theoretical explanations.
P: TT × tt
(Tall) (Dwarf)
T t
F1 : Tt Phenotypic ratio Þ Tall : Dwarf

(Tall) 3 1
:
Tt × Tt 4 4
(Selfing) or 3 : 1
Genotypic ratio Þ TT : Tt : tt
1 2 1
: :
F2 : 4 4 4
Ga me
or 1 : 2 : 1
+
m tes
Ga
T t
et
es
TT Tt
T (Tall) (Tall)
t Tt tt
(Tall) (Dwarf)
Fig. 27.2 A Punnett square used to understand a typical monohybrid cross conducted by Mendel between true
breeding tall plants (TT) and true breeding dwarf plants (tt).
6. Mendel proposed that something was stably passed down, unchanged, from parent to the offspring through the
gametes, over successive generations. He called these things as factors. Now a days these are called genes/alleles.
Genes are therefore, units of inheritance. They contain the information that is required to express a particular trait, in an
organism. Genes which code for a pair of contrasting traits are known as alleles, i. e., they are slightly
different forms of the same gene.
7. The production of gametes by the parents, the formation of zygotes, the F1 and F2 plants can be understood from the diagram
called Punnett square developed by the British geneticist, Reginald C. Punnett. It is graphical representation to
calculate the probability of all possible genotypes of offsprings in a genetic cross. The possible gametes are written on two
sides, usually the horizontal row contain male gametes where as the vertical column contain female gametes.
8. Though the genotypic ratios can be calculated using mathematical probability, but by simply looking at the phenotype of
a dominant trait, it is not possible to know the genotypic composition, e. g ., whether a tall plant from F1 or F2 has TT or Tt
composition cannot be predicted. So, to determine the genotype of a tall plant at F2 , Mendel crossed the tall plant from
F2 with a dwarf plant. This is called a test cross.
9. In a typical test cross an organism (Pea plants here) showing a dominant phenotype (and whose genotype is to be
determined) is crossed with the recessive parent instead of self-crossing. The progenies of such a cross can easily be
analysed to predict the genotype of the test organism as shown below :
Dwarf Dwarf
tt tt
te Ga
ame te me
t t G te t t
me
+G
a
Ga me
te
+
Tt Tt Tt Tt
T T
TT Tall Tt
Tt Tt tt tt
T Dominant t
phenotype
(Genotype
unknown)
Result : All plants tall Half of the plants tall
and half of the plants
dwarf
Conclusion : Unknown genotype is Unknown genotype is
homozygous dominant heterozygous dominant
Fig. 27.3 Diagrammatic representation of a test cross
Note: yellow coloured and round shaped seeds. The study

of inheritance of two genes involve the study
Back Cross of two characters.
2. Thus, yellow colours was dominant over green and
Test Cross Out Cross round shape dominant over wrinkled. These results
were identical to those that he got when he made
P: TT × tt TT × tt
separate monohybrid crosses between yellow and green
(Tall) (Dwarf) (Tall) (Dwarf)
seeded plants and between round and wrinkled seeded
plants.
3. The genotype of the parents can then be written as
F1 : Tt Tt RRYY and rryy. In F1 , RrYy (Hybrid) type progenies are
(Tall) (Tall) formed.
3
4. The F1 plants were self hybridized and he found that th
Based on his observations on monohybrid crosses Mendel 4
1
proposed two general rules to consolidate his understanding of F2 plants had yellow seeds and th had green. The
of inheritance in monohybrid crosses. Today these rules are 4
called Principles or laws of inheritance. The first law or yellow and green colour segregated in a 3 : 1 ratio.
law of dominance and the second law or law of Round and wrinkled seed shape also segregated in a
segregation. 3 : 1 ratio; just like in a monohybrid cross. A dihybrid
cross is shown below :
1. Law of Dominance (1st Law)
1. Characters are controlled by discrete units called P: RRYY × rryy
factors. (Round yellow seed) (Wrinkled green seed)
2. Factors occur in pairs.
Gametes : RY ry
3. In a dissimilar pair of factors one member of the pair
dominates (dominant) the other (recessive). F1 : RrYy
The law of dominance is used to explain the expression (Round yellow seed)
of only one of the parental characters in a monohybrid RrYy × RrYy
cross in the F1 and the expression of both in the F2 . It (Selfing)
also explains the proportion of 3 : 1 obtained at the F2 . F2 :
2. Law of Segregation (2nd Law)
1. Alleles do not show any blending and both the
Ga me
+
m te s
Ga
characters are recovered as such in the F2 generation RY Ry rY ry

et
es
though one of these is not seen at the F1 stage.

RRYY RRYy RrYY RrYy
2. Though the parents contain two alleles during gamete (Round (Round (Round (Round
RY
formation, the factors or alleles of a pair segregate from yellow) yellow) yellow) yellow)
each other such that a gamete receives only one of the
RRYy RRyy RrYy Rryy
two factors. Ry (Round (Round (Round (Round
3. A homozygous parent produces all the gametes that are yellow) green) yellow) green)
similar while a heterozygous one produces two kinds of
gametes each having one allele with equal proportion. RrYY RrYy rrYY rrYy
rY (Round (Round (Wrinkled (Wrinkled
yellow) yellow) yellow) yellow)
INHERITANCE OF TWO GENES Rryy rrYy rryy
RrYy
1. Mendel also worked with and crossed pea plants that ry (Round (Round (Wrinkled (Wrinkled
differed in two characters like one with seeds of yellow yellow) green) yellow) green)
colour and round shape and the other with seeds of
green colour and wrinkled shape. Mendel found that
the seeds resulting from the crossing of parents, had
Phenotypic ratio Þ Round yellow : Round green : Wrinkled yellow : Wrinkled green
9 : 3 : 3 : 1
Genotypic ratio Þ
é 1 1 1
êRRYY = ´ =
4 4 16
ê 1 2 2 é 1 1 1
êRRYy = ´ = êRRyy = ´ =
Round yellow ê 4 4 16 Round green ê 4 4 16
êRrYY = 2 1 2 2 1 2
´ = êRryy = ´ =
ê 4 4 16 ë 4 4 16
ê 2 2 4
êRrYy = ´ =
ë 4 4 16
é 1 1 1
êrrYY = ´ =
4 4 16 é 1 1 1
Wrinkled yellow ê Wrinkled green êrryy = ´ =
1 2 2 ë 4 4 16
êrrYy = ´ =
ë 4 4 16
It can be noted that w.r.t.

Seed shape Seed colour
Round : Wrinkled Yellow : Green
(9 + 3) : (3 + 1) (9 + 3) : (3 + 1)
12 : 4 12 : 4
3 : 1 3 : 1
Based upon his observations on dihybrid crosses (i.e., crosses between plants differing in two characters), Mendel proposed
another set of generalisation or rule which is now known as the third law or Law of Independent Assortment.
3. Law of Independent Assortment (3rd Law)
1. When two pairs of traits are combined in a hybrid, segregation of pair of traits is independent of the other pair of traits.
2. Actually, alleles of two pairs of traits separate independently of each other during gamete or spore formation and get
randomly rearranged in the offspring at the time of fertilisation producing both parental and new combination of traits.
3. Mendel noticed during all his work that height of the plant and shape of seeds and colour of pods had no impact on one
another. In other words, being tall did not automatically mean that the plants had to have green pods, nor did green
pods have to be filled only with wrinkled seeds, the different traits seem to be inherited independently.
Note:
1. Exceptions to Mendel’s law:
(a) Exception to the law of Dominance is the of is the phenomena of incomplete dominance and
codominance.
(b) Exception to the law of Independent Assortment is the phenomenon of linkage.
2. The only universal law of Mendel is the Law of Segregation.
3. The Starch Branching Enzyme (SBE) is produced by SBE gene which is important for producing round seeds in pea.
Mutation of SBE gene leads to non-production of Starch Branching Enzyme thus, wrinkling of pea seeds.
SOME IMPORTANT FORMULAE AND SHORTCUTS

I. Formula to calculate types of gametes from a given genotype= 2 n
where, n = number of heterozygosity in the given genotype.
Ques 1. Find out the types of gamete that can occur in an individual having the following genotypes:
(i) AABB (ii)AA (iii) AaBb (iv) AaBbCC (v) AaBbCc
Ans. (i) 2 0 = 1, (ii)2 0 = 1, (iii)2 2 = 4, (iv)2 2 = 4, (v)2 3 = 8 .
II. Forkline method to from different types of Whenever we get heterozygous condition we take the
gametes from the given genotype of an 2
value and for homozygous condition (homozygous
individual. 4
recessive or hemozygous dominant) we take the value
A 1
and finally multiply them to obtain the chances of
(i) Aa 4
a occurrence an individual with a particular genotype as
So, gamete types are: A and a. a result of heterozygous selfing.
(ii) Consider the following cross :
AB AaBbCc ´ + AaBbCc
(ii) AaBB What are the chances of occurrence of a progeny
aB with AaBBCc genotype?
The given genotype of progeny is :
2 1 2 4
So, gamete types are : AB and aB. AaBBCc = ´ ´ = (Applying the same short-cut
4 4 4 64
B = AB method as mentioned in example (i).
A
b = Ab So, the chances of occurrence of the progeny with the
(iii) AaBb
B = aB 4
a genotype AaBBCc =
b = ab
64
IV. Short cut technique to find out the chances of
So, the gamete types are : AB, Ab, aB and ab. occurrence of an individual with a particular
C = ABC genotype which is the result of a random cross
B c = ABc and not heterozygous selfing.
A
C = AbC (i) Consider the following cross :
b
(iv) AaBbCc c = Abc AaBB ´ +aaBb
C = aBC
B What are the chances of occurrence of a progeny
a c = aBc
C = abC with aaBb genotype?
b
c = abc Let us first try with manual mehtod.
So, the gamete types are : ABC, ABc, AbC, Abc, aBC, AB aB
aBc, abC, abc. +
Cd = ABCd aB AaBB aaBB
AB
cd = ABcd
(v) AaBBCcdd
Cd = aBCd ab AaBb aaBb
aB
cd = aBcd
1
So, the gamete types are : ABCd, ABcd, aBCd, aBcd. So, the chances of occurrence of aaBb =
III. Short cut technique to find out the chances of 4
occurrence of an individual with a particular Now, let us learn the short cut method.
genotype which is the result of a heterozygous (a)
selfing of parents.
YY × + YY
(i) Consider the following cross :
AaBb ´ AaBb
What are the chances of occurrence of a progeny with Y Y
Aabb genotype? +
Let us take the genotype of progeny: Y YY YY
2 1 2
Aabb = ´ =
4 4 16 Y YY YY
So, the chances of occurrence of the progeny with
2
genotype Aabb = 4 1
16 So, YY = =
4 1
(b) (e)
yy × + yy Yy × + Yy
y y Y y
+ +
y yy yy Y YY Yy
y yy yy y Yy yy
1 2 1 1
So, YY = , Yy = = and yy =
4 1 4 4 2 4
So, yy = = (f)
4 1
(c) YY × + yy
YY × + Yy
Y Y
+
Y Y
+ y Yy Yy
Y YY YY
y Yy Yy
y Yy Yy
4 1
So, Yy = =
4 1
Let us now take down the previous question again.
2 1 2 1 (i) It says, consider the following cross :
So, YY = = and Yy = =
4 2 4 2 AaBB ´ aaBb
(d) What are the chances of occurrence of a progeny with
aaBb genotype?
yy × + Yy The cross is :
y y Aa BB × aa Bb
+
Y Yy Yy
aaBb = ?
y yy yy 1 1 1
So, aaBb = ´ =
2 2 4
(ii) Consider the following cross :
2 1 2 1
So, yy = = and Yy = = AaBBCcdd ´ aaBbccDD
4 2 4 2
What are the chances of occurrence of a progeny with
aaBbccDd genotype?
1 1 1 1 1
Ans. ´ ´ ´ =
2 2 2 1 8
Some Important formulae and results w.r.t. heterozygous selfing in Mendel's experiment. (In the table
n = number of heterozygosity per parent)
Number of Number
Types of Number of Phenotypic ratio Genotypic ratio
F1 heterozygous zygotes = of
gametes phenotype = ( 3 : 1)n (1 : 2 : 1)n
selfing (types of genotype
= 2n = 2n
gametes) 2 = 3n
Aa × Aa 21 = 2 22 = 4 21 = 2 31 = 3 (3 : 1)1 = 3 : 1 (1 : 2 : 1)1 = 1 : 2 : 1
w.r.t. monohybrid
cross
AaBb × AaBb 22 = 4 42 = 16 22 = 4 32 = 9 (3 : 1)2 = 9 : 3 : 3 : 1 (1 : 2 : 1)2
w.r.t. dihybrid cross =1 : 2 : 1 : 2 : 4 : 2 :
1: 2: 1
AaBbCc × AaBbCc 23 = 8 82 = 16 23 = 8 33 = 27 (3 : 1)3 (1 : 2 : 1)3
w.r.t. trihybrid cross = 27 : 9 : 9 : 9 : 3 : =1 : 2 : 1 : 2: 4: 2: 1:
3: 3: 1 2: 1: 2: 4: 2: 4: 8:
4: 2: 4: 2: 1: 2: 1:
2: 4: 2: 1: 2: 1
Reciprocal cross : It is a breeding experiment designed to test the role of parental sex on given inheritance pattern.
All parent organisms must be true breeding. In one cross a male expressing the trait of interest will be crossed with a
female not expressing the trait. In the other, a female expressing the trait of interest will be crossed with a male not
expressing the trait. Reciprocal cross also means that it is a type of cross where even if the sexes of two parents are
reversed, there is no change in the phenotype of F1 progeny as shown below :
(i) TT × tt (ii) TT × tt
+ +
(Tall) (Dwarf) (Tall) (Dwarf)
F1 : Tt F1 : Tt
(Tall) (Tall)
Ques : Find out the phenotypic and genotypic ratios of :
(i) Monohybrid test cross
(ii) Dihybrid test cross
(iii) Trihybrid test cross
Ans. (i) Monohybrid test cross :
P: TT × tt
+
(Tall) (Dwarf)
Test cross
Tt
Test cross results:

T t
+
t Tt tt
Phenotypic ratio = Tall : Dwarf

=1 : 1
Genotypic ratio = Tt : tt
=1 : 1
(ii) Dihybrid test cross :

P: RRYY × rryy
+
(Round and (Wrinkled and
yellow seed) green seed)
Test cross
RrYy
F1 : (Round and yellow seed)
Test cross result :
RY Ry rY ry
+
ry RrYy Rryy rrYy rryy
Round Round Wrinkled Wrinkled

Phenotypic ratio = : : :
yellow green yellow green
= 1 : 1 : 1 : 1
Genotypic ratio = RrYy : Rryy : rrYy : rryy
= 1 : 1 : 1 : 1
(iii) Trihybrid test cross:
Similarly, in trihybrid test cross ratio, both phenotypically and genotypically will be 1:1:1:1:1:1:1:1
POST MENDELIAN DISCOVERIES

Gene Interactions
Intragenic Intergenic
(= Interallelic) (= Non-allelic)
A B A B P Q
1 1 3
1¢ 1¢ 3¢
a b a b p q
1. Two alleles of a gene present on the same gene locus of a 1. Two or more independent genes present on the same or
homologous pair of chromosomes interact to produce a different chromosomes at different loci interact to produce a
phenotypic effect different from a typical dominant-recessive phenotypic effect different from a typical dominant-recessive
phenotype. phenotype.
2. e.g., Incomplete dominance, codominance, multiple allelism, 2. e. g. , Complementary gene, dominant epistasis, recessive
pleiotropy, lethal genes. epistasis and supplementary gene, collaborative gene,
duplicate gene.
Intragenic Interactions
1. Incomplete dominance :
(i) It is phenomenon in which none of the contrasting alleles of the same gene is dominant.
(ii) The phenotypic expression of the character in the hybrid or F1 individual is intermediate of the two parents.
(iii) The F2 phenotypic as well as genotypic ratio is 1 : 2 : 1.
(iv) The case of incomplete dominance in Mirabilis jalapa (4O’ clock plant) and Antirrhinum majus (Snapdragon or
Dog flower) is shown ahead :
P: RR × + rr These two alleles are not always identical, as in a

(Red flower) (White flower) heterozygote. One of them may be different due to
some changes that it has undergone which modifies
the information that particular allele contains.
F1 : Rr (ii) A gene can contain information for producing an
(Pink flower)
enzyme. These are two copies of this gene, the two
allelic forms. The normal allele produces the normal
R r enzyme that is required for the transformation of a
+
substrate. Theoretically, the modified allele could be
RR Rr
R responsible for the production of :
(Red) (Pink)
F2 :
(a) The normal/less efficient enzyme, or
r Rr rr (b) A non–functional enzyme, or
(Pink) (White)
(c) No enzyme at all.
(iii) In the above case :(a), the modified allele is equivalent
Phenotypic ratio : Red : Pink : White to the unmodified allele i. e., it will produce the same
1 : 2 : 1
phenotype/trait as in silent mutation. If the allele
Genotypic ratio : RR : Rr : rr produces non–functional enzyme or no enzyme as in
1 : 2 : 1 the case (b) and (c) the phenotype will be affected.
(v) The case of incomplete dominance in Andalusian fowl The unmodified (functional) allele, which represents
is shown below: the original phenotype is the dominant or wild
type and the modified allele is generally the
P: BB × + bb recessive or mutant type. Thus, the recessive trait
(Black feather) (White feather) is due to nonfunctional enzyme or because no enzyme
is produced at all.
F1 : Bb
(Blue feather) 2. Codominance
1. It is the phenomenon in which two contrasting alleles
B b of the same gene lacking dominance–recessiveness
+ express their effect simultaneously in heterozygous
BB Bb condition.
B
(Black) (Blue)
F2 : 2. The phenotypic expression of the character in the
Bb bb hybrid or F1 individual resembles both the parents.
b
(Blue) (White) 3. The F2 phenotypic as well as genotypic ratio is 1:2:1.
4. The examples of codominance are :
Phenotypic ratio : Black : Blue : White (a) Roan coat colour in cattles : When pure red
1 : 2 : 1 and white coat coloured cattles are crossed then
BB : Bb : bb in the F1 generation, roan coat coloured cattle
Genotypic ratio :
1 : 2 : 1 appears. Roan coat has patches of red and white
(Mosaic inheritance). On crossing the roan
(vi) Starch grain size inheritance in pea seeds. hybrids–red, white and roan appear in the ratio
1:2:1 (Both phenotypically and genotypically).
Note: (b) AB blood group in humans : The alleles for
Ques: The law of dominance at one gene locus and co- blood group A (I A ) and blood group B(I B ) are
dominance at the other gene locus will produce what codominant so, when they come together in an
genotypic ratio when a dihybrid is selfed? individual, they produce blood group AB.
Ans. (1:2:1)(1:2:1) = 1:2:1:2:4:2:1:2:1 Erythrocytes of AB blood group contain antigens
Explanation of the concept of dominance of both blood groups A and B.
(i) What is actually dominance? Why some alleles are (c) MN blood group in humans : The red blood
dominant and some recessive? To answer, we must cells can carry two types of antigens, M and N
understand what a gene does. Every gene contains the and a human being can have MM, MN or NN
information to express a particular trait. In a diploid where MN blood group is a case of codominance.
organism these are two copies of each gene i. e., a pair (d) Human beings heterozygous for sickle
of alleles. cell anaemia : The heterozygous condition
for sickle cell anaemia genotypically is Hb S Hb A . (a) In Drosophila, a single gene influences the size of
Individuals of this genotype produces both wings, position of dorsal bristles, character of
normal and abnormal haemoglobin and RBC is balancers, fertility and longevity.
also of two types the normal biconcave one and
(b) The gene for starch synthesis in pea can produce
the sickle shaped one.
more than one effect :
3. Multiple Allelism RR¾® Large starch grain, round seed
1. More than two alternative forms a gene is present. Rr¾® Intermediate size starch grain, round seed
2. It is evident in a population and not in an individual. rr ¾® Small starch grain, wrinkled seed
3. Expression of different alternatives of the same (c) In humans,the gene for the disease
character occurs. phenylketonuria has pleiotropic effect and
4. Different alleles show dominance–recessiveness and produces various abnormal phenotypic traits. The
codominance phenomenon. affected individual secrete excessive quantity of
5. Follows Mendelian pattern of inheritance. amino acid phenylalanine in their urine,
6. If n = number of distinct alleles of a gene for a cerebrospinal fluid and blood. They become
particular character in a population then, mentally retarded. The gene which causes
n
(a) Number of genotypes = ( n + 1) phenylketonuria also interferes with melanin
2
synthesis and thus, reduction in hair and skin
Number of phenotypes = ( n + 1)
pigmentation. Phenylketonuria (PKU) is caused
7. The examples of multiple allelism are :
by the mutation in the gene that codes for the
(a) Coat colour in rabbits is controlled by 4 distinct enzyme phenyl alanine hydroxylase (Single gene
alleles. mutation).
(b) Eye colour in Drosophila is controlled by about 15 (d) In humans the gene which causes the sickle cell
distinct alleles. diseases (SCD) or sickle cell anaemia
(c) Self incompatibility in many plants is controlled (SCA) or drepanocytosis has pleiotropic
by multiple alleles. effect. It is characterised by red blood cells that
(d) The ABO blood group system in human beings is assume an abnormal, rigid, sickle shape.
controlled by 3 distinct alleles. Sickling decreases the cell’s flexibility and result
Ques : How many types of genotypes and phenotypes are in a risk of various life threatening complications
possible in the ABO blood group system in humans? like chronic anaemia, renal and pulmonary
n
Ans. Number of genotype = ( n + 1) dysfunction, brain and spleen damage etc.
2
3 Individuals with one copy of the mutant
= (3 + 1) = 6 gene produce a mixture of both normal
2
Number of phenotype = n + 1 = 3 + 1 = 4 and abnormal haemoglobin. This is an
Phenotype (Blood group) Genotype example of codominance.
A IA IA , IA IO
B IB IB , IB IO Note: Dominance is not an autonomous feature of a gene
AB IA IB or the product that it has information for. It depends
O IO IO as much on the gene product and the production of
a particular phenotype from this product as it does
Note: In ABO blood group system in human beings the on the particular phenotype that we choose to
individual having blood groups : examine, in case more than one phenotype is
A ¾® Has A - antigen and H - antigen influenced by the same gene.
B ¾® Has B- antigen and H- antigen
AB ¾® Has A, B - antigens and H- antigen 5. Lethal Genes
O ¾® Has H- antigen only 1. It is the gene which results in viability reduction or
causes death of an organism. Lethal genes may be
4. Pleiotropism completely recessive and produce no effect in
1. The phenomenon of multiple phenotypic expression of heterozygous state or semilethal in heterozygous state.
a single gene is called pleiotropism. Some lethals may be dominant.
2. The examples of pleiotropism are :
2. Lethal genes (Recessive lethal) were discovered 2. Dominant Epistasis (12:3:1) : The dominant gene
by Lucein Cuenot (1905) for animals and by Edwin at one locus suppress the gene at another locus,
Baur (1907) for plants. Examples of human diseases regardless whether the other gene is dominant or
caused by recessive lethal alleles include cystic fibrosis, recessive. The gene which suppresses (masks) other
sickle cell anaemia and achondroplasia. gene is called epistatic gene and the gene which gets
3. Dominant lethal genes are expressed both in suppressed (masked) is called hypostatic gene. e. g .,
homozygous and heterozygous states, e. g ., Fruit coat colour in Cucurbita pepo (summer squash).
Huntington’s disease (a neurological disorder).
4. Conditional lethal genes causes death under P: AABB × aabb
certain condition e. g ., Favism is a sex-linked recessive (White fruit) (Green fruit)
disorder which results from the deficiency in the
enzyme glucose-6-phosphate dehydrogenase. The
affected individuals when eat fava beans, they develop AaBb
F1 :
(White fruit)
haemolytic anaemia in which RBC break apart and
block blood vessels. F2 :
5. Sublethal genes causes death before the attainment
of sexual maturity, e. g ., sickle cell anaemia.
6. Absolute lethal genes causes death in embryonic
stages, e. g ., homozygous yellow mouse.
Ga me
+
m tes
Ga
AB Ab aB ab
et
es
Intergenic Interactions
1. Complementary genes (9:7): These are AABB AABb AaBB AaBb
AB
non-allelic genes which independently show similar (White) (White) (White) (White)
effect but when present together produce a new
phenotypic effect, e. g ., flower colour inheritance in AABb AAbb AaBb Aabb
Ab
Lathyrus odoratus. (White) (White) (White) (White)
P: AAbb × aaBB AaBB AaBb aaBB aaBb

(White) (White) aB (White) (White) (Yellow) (Yellow)
AaBb Aabb aaBb aabb

AaBb ab (White) (Yellow) (Green)
F1 : (White)
(Purple)
F2 : White : Yellow : Green

12 : 3 : 1
In the above case the effect of the genes,
A>B>a=b
Ga me
+
m te s
Ga
AB Ab aB ab 3. Recessive Epistasis and Supplementary gene

et
es
(9:3:4) : A gene is said to be recessive epistatic when in

AABB AABb AaBB AaBb homozygous it can mask the effect of other dominant gene or
AB
(Purple) (Purple) (Purple) (Purple) recessive genes.
e. g . coat colour inheritance is mouse (Agouti/grey : Black :
AABb AAbb AaBb Aabb Albino = 9 : 3 : 4)
Ab
(Purple) (White) (Purple) (White) P: AAbb × aaBB
(Black) (Albino)
AaBB AaBb aaBB aaBb
aB (Purple) (Purple) (White) (White)
AaBb
F1 :
AaBb Aabb aaBb aabb (Agouti)
ab (Purple) (White) (White) (White)
F2 :
Purple : White
9 : 7
5. Duplicate gene (15:1): Two dominant non-allelic

Ga me
+
genes together or independently produce similar

m tes
Ga
AB Ab aB ab
et
es
phenotype and when all the genes are present in

homozygous recessive state then the second phenotype
AABB AABb AaBB AaBb
AB is produced, e. g ., Fruit shape in Capsella bursa pastoris
(Agouti) (Agouti) (Agouti) (Agouti)
(Shepherd’s purse).
AABb AAbb AaBb Aabb P: AABB × aabb
Ab
(Agouti) (Black) (Agouti) (Black) (Triangle shaped (Top-shaped
fruit) fruit)
AaBB AaBb aaBB aaBb
aB (Agouti) (Agouti) (Albino) (Albino) AaBb
F1 :
(Triangle shaped fruit)
AaBb Aabb aaBb aabb
ab (Agouti) (Black) (Albino) (Albino)
Agouti : Black : Albino

9 : 3 : 4 F2 :
In the above case, the effect of : aa > BB or Bb.
Ga me
+
m tes
Ga
The gene ‘B’ supplements gene ‘A’ to form agouti so, AB Ab aB ab
et
es
gene ‘B’ is called supplementary gene.
4. Collaborative gene (9:3:3:1) AB
AABB AABb AaBB AaBb
Two non-allelic genes independently produce two (Triangle) (Triangle) (Triangle) (Triangle)
types of phenotypes and when present together
produces the third phenotype. Also when all the genes AABb AAbb AaBb Aabb
Ab
(Triangle) (Triangle) (Triangle) (Triangle)
are present in homozygous recessive state then the
fourth phenotype is produced, e. g . Cock’s comb.
AaBB AaBb aaBB aaBb
P: AAbb × aaBB aB (Triangle) (Triangle)
(Triangle) (Triangle)
(Rose comb) (Pea comb)
AaBb Aabb aaBb aabb

ab (Triangle) (Triangle) (Triangle) (Top)
AaBb
F1 :
(Walnut comb)
Triangle shaped : Top shaped
F2 :
15 : 1
Polygenic or Quantitative Inheritance

Ga me
+
m tes
Ga
AB Ab aB ab 1. The polygenic inheritance is controlled by two or more

et
es
genes in which genes involved in quantitative

AABB AABb AaBB AaBb inheritance are called polygenes.
AB
(Walnut) (Walnut) (Walnut) (Walnut) 2. In polygenic inheritance one character is controlled by
two or more genes. The effects of each contributing
Ab
AABb AAbb AaBb Aabb allele are cumulative or additive.
(Walnut) (Rose) (Walnut) (Rose) 3. Nilsson-Ehle and East had shown the segregation
and assortment of genes w.r.t quantitative traits, e. g .
aB
AaBB AaBb aaBB aaBb Kernel colour in wheat and corolla length in tobacco.
(Walnut) (Walnut) (Pea) (Pea) 4. Nilsson-Ehle crossed red kerneled variety with white
kerneled variety of wheat. Grains of F1 were uniformly
AaBb Aabb aaBb aabb red but intermediate between the red and white of
ab (Walnut) (Rose) (Pea) (Single)
parental generation. When the progenies of F1 were
self-crossed then five different phenotypic classes
Walnut comb : Rose comb : Pea comb : Single comb appeared in F2 showing the ratio of 1:4:6:4:1.
9 : 3 : 3 : 1
Extreme red Dark red Intermediate red Light red White

1 4 6 4 1
16 16 16 16 16
(as one parent) (as that of F1 ) (as one parent)
In the above case, kernel colour in wheat is determined by two pairs of genes AA and BB. Gene A and B determine red
colour of kernel and are dominant over their recessive alleles. Heterozygotes for two pairs of genes (AaBb) segregate into
15 red (different shades) and one white kerneled plants.
5 Human skin colour : It was first studied by Davenport in Negro-Caucasion intermarriages in Jamaica and Muda.
Human skin colour is caused by the melanin pigment. The quantity of melanin is due to three pairs of polygenes—A, B
and C.
P: AABBCC × aabbcc
(Very dark skin) (Very light skin)
AaBbCc
F1 :
(Mulatto or intermediate skin)
F2 : (1) All six dominant polygenes = Very dark skin

(2) Five dominant + One recessive polygene = Dark skin
(3) Four dominant + Two recessive polygenes = Fairly dark skin
(4) Three dominant + Three recessive polygenes = Intermediate skin
(5) Four recessive + Two dominant polygenes = Fairly light skin
(6) Five recessive + One dominant polygene = Light skin
(7) All six recessive polygenes = Very light skin
Very dark skin Dark skin Fairly dark skin Intermediate skin Fairly light skin Light skin Very light skin
1 6 15 20 15 6 1
64 64 64 64 64 64 64
Note: The frequency of distribution for polygenic inheritance comes out to be a bell shaped normal distribution curve
where extreme phenotypes are rare and intermediate phenotypes are more.
F2 generation
Relative frequency
Phenotypes
Ques :What will be the skin colour of human beings with the following genotypes—AABBcc, aaBBCC, AaBbCc, aaBbCC ?
Ans AABBcc = Fairly dark skin
aaBBCC = Fairly dark skin
AaBbCc = Mulatto
aaBbCC = Mulatto
6. Other examples of polygenic inheritance are–human height (Controlled by 5 pairs of polygenes), plant height in
tobacco, corolla length in tobacco, cob length in maize, fruit weight in some plants.
Monogenic/ Qualitative inheritance Polygenic/Quantitative inheritance

1. Each gene controls one character. More than one gene controls one character.
2. Single dominant gene (dominant allele) influences the complete Single dominant polygene individually produces a slight
trait. effect and in the presence of other such dominant
polygenes produce the quantitative expression due to
cumulative effect. Full expression of a trait occurs when all
the dominant polygenes are present.
3. If n = number of gene pairs then as a result heterozygous selfing, If n = number of polygene pairs then as a result of
(a) Number of genotype = 3n heterozygous selfing,
(b) Number of phenotype = 2n. (a) Number of genotype = 3n ,
(b) Number of phenotype = (2n + 1)
4. Example: Example:
(i) Heterozygous selfing w.r.t two gene pairs : (i) Heterozygous selfing w.r.t two gene pairs :
AaBb ´ AaBb AaBb × AaBb
No. of genotype = 32 = 9 No. of genotype = 32 = 9
No. of phenotype = 22 = 4 No. of phenotype = (2 ´ 2 + 1) = 5
Phenotypic ratio = 9:3 :3 :1 Phenotypic ratio = 1:4 :6 :4:1
(ii) Heterozygous selfing w.r.t. three gene pairs : (ii) Heterozygous selfing w.r.t. three gene pairs :
AaBbCc ´ AaBbCc AaBbCc ´ AaBbCc
No. of genotype = 33 = 27 No. of genotype = 33 = 27
No. of phenotype = 23 = 8 No. of phenotype = (2 ´ 3 + 1) = 7
Phenotypic ratio = 27:9 :9 :9:3:3:3:1 Phenotypic ratio = 1:6:15:20:15:6:1
CHROMOSOMAL THEORY OF INHERITANCE/PARALLELISM BETWEEN CHROMOSOMES

AND MENDELIAN FACTORS
1. Mendel published his work on inheritance of characters in 1865 but for several reasons, it remained unrecognised till
1900. The reasons were:
(i) Firstly, communication was not easy in those days and his work could not be widely publicised.
(ii) Secondly, his concept of genes (or factors, in Mendel’s words) as stable and discrete units that controlled the
expression of traits and, of the pair of alleles which did not ‘blend’ with each other, was not accepted by his
contemporaries as an explanation for the apparently continuous variation seen in nature.
(iii) Thirdly, Mendel’s approach of using mathematics to explain biological phenomena was totally new and
unacceptable to many of the biologists of his time.
(iv) Finally, though Mendel’s work suggested that factors (genes) were discrete units, he could not provide any
physical proof for the existence of factors or say what they were made of.
2. In 1900, three Scientists (de Vries, Correns and von Tschermak) independently rediscovered Mendel’s results on the
inheritance of characters. Also, by this time due to advancements in microscopy that were taking place, scientists were
able to carefully observe cell division. This led to the discovery of structures in the nucleus that appeared to double and
divide just before each cell division. These were called chromosomes (colored bodies, as they were visualised by
staining).
3. By 1902, the chromosome movement during meiosis had been worked out. Walter Sutton and Theodore Boveri
noted that the behaviour of chromosomes was parallel to the behaviour of genes and used chromosome movement to
explain Mendel’s laws.
4. Sutton and Boveri argued that the pairing and separation of a pair of chromosomes would lead to the segregation of a
pair of factors they carried. Sutton united the knowledge of chromosomal segregation with Mendelian principles and
called it the Chromosomal Theory of Inheritance.
5. The salient features of chromosomal theory of inheritance are as follows :
(i) Like the hereditary traits, the chromosomes retain their number, structure and individuality throughout the life
of an organism and from generation to generation. The two neither get lost nor mixed up. They behave as units.
(ii) Both chromosomes as well as genes occur in pairs in the somatic or diploid cells. The two alleles of a gene pair are
located on homologous sites on homologous chromosomes.
(iii) A gamete contains only one chromosome of a type and only one of the two alleles of a trait.
(iv) The paired condition of both chromosomes as well as Mendelian factors is restored during fertilization.
Mendel’s Events Chromosomal behaviour crosses were similar to the dihybrid crosses carried out
factors during meiosis by Mendel in peas.
T T Maternal chromosome 2. For example Morgan hybridised yellow-bodied,
t Pairing Paternal chromosome white-eyed females to brown-bodied, red-eyed males
Tt t (Zygotene of Prophase-I) and intercrossed their F 1 progeny. He observed that the
two genes did not segregate independently of each
T other and the F 2 ratio deviated very significantly from
T
the 9:3:3:1 ratio (expected when the two genes are
Segrega-
independent).
t tion 3. Morgan and his group knew that the genes were located
t Anaphase-I on the X chromosome and saw quickly that when the
Tt
two genes in a dihybrid cross were situated on the same
chromosome, the proportion of parental gene
R Y R y Y y
Indepen- R R combinations were much higher than the non-parental
or dent or type. Morgan attributed this due to the physical
Assort- association or linkage of the two genes and coined the
ment r y r Y
r y r Y term linkage to describe this physical association of
RrYy (Metaphase-I then Anaphase-I) genes on a chromosome and the term recombination
to describe the generation of non-parental gene
Fig. 27.4 Parallelism between Mendel’s hypothetical particles combinations. Linkage may be defined as ‘the
(factors or genes) and chromosomes during meiosis. tendency of two or more genes of the same
6. Following this synthesis of ideas, experimental chromosome to remain together during the
verification of the chromosomal theory of inheritance process of inheritance’.
by Thomas Hunt Morgan and his colleagues, led to 4. Morgan and his group also found that even when genes
discovering the basis for the variation that sexual were grouped on the same chromosome, some genes
reproduction produced. Morgan worked with the tiny were very tightly linked (showed very low
fruit flies, Drosophila melanogaster. This fly is recombination) (Cross A) while others were loosely
suitable for experimental genetics for following linked (showed higher recombination) (Cross B). For
reasons. example he found that the genes white (Eye colour) and
(i) They could be grown on simple synthetic yellow (Body colour) were very tightly linked and
medium in the laboratory. showed only 1.3 per cent recombination while white
(Eye colour) and miniature (wing) showed 37.2 per
(ii) They complete their life cycle in about two
cent recombination.
weeks, and a single mating could produce a large
number of progeny flies. 5. The student of Morgan, Alfred Sturtevant used the
frequency of recombination between gene pairs on the
(iv) A clear differentiation of the sexes the male and
same chromosome as a measure of the distance
female flies are easily distinguishable.
between genes and ‘mapped’ their position on the
(v) It has many types of hereditary variations that
chromosome. He prepared the first chromosomal map
can be seen with low power microscopes.
or genetic map for Drosophila. Today genetic maps are
extensively used as a starting point in the sequencing of
Note: whole genomes as was done in the case of the Human
1. If the genes under study are present on different Genome Sequencing Project.
non-homologous chromosomes then the decision for
independent assortment occurs during meiotic Character
Metaphase-I of meiosis-I. Dominant trait Recessive
(The concerned
2. If the genes under study are present on the same genes are located on (wild type) trait
chromosomes (and are far apart) then the decision for X-chromosome)
independent assortment occurs during pachytene
Body colour Brown body (y + ) Yellow body ( y )
(crossing over) of prophase-I of meiosis-I.
+
Eye colour Red eye (w ) White eye (w )
Linkage and Recombination +
Type of wings Normal (m ) Miniature (m)
1. Morgan carried out several dihybrid crosses in
Drosophila to study genes that were sex-linked. The
Cross A Cross B
+ +
y w y+ w+ w m w+ m+
Parental
y w w m
Yellow, white Wild type White, miniature Wild type
+ +
y w y w w m w m
F1 generation
y+ w+ w+ m+
Wild type Yellow, white Wild type White, miniature
Parental Recombinant Gametes Parental Recombinant

types (98.7%) types (1.3%) types (62.8%) types (37.2%)
y+ w+ y+ w w+ m+ w+ m
Wild type White Wild type Miniature
y w y w+ w m w m+
Yellow, white Yellow White, miniature White
F2 generation
y+ w+ y+ w w+ m+ w+ m
y w y w w m w m
Wild type White Wild type Miniature
y w y w+ w m w m+
y w y w w m w m
Yellow, white Yellow White, miniature White
Fig. 27.5 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.
Types of Linkage (iii) Completely linked genes do not show
1. Complete Linkage : independent assortment therefore, dihybrid
(i) It is defined as the phenomenon where the genes genotypic ratio will be 1:2:1 and phenotype ratio
are very closely located on the chromosome so, will be 3:1. Similarly, dihybrid test cross ratio will
hardly any crossing over occurs. be 1:1 both phenotypically and genotypically
(ii) It is rare in nature, e. g ., male Drosophila and which is explained and shown ahead if A and B
genes are completely linked :
female Bombyx mori.
Y y (v) Frequency of recombination (cross-over value)

Number of recombinants
= ´ 100
P: AABB × aabb Total number of progenies
(vi) Frequency of recombination is always £ 50%.
Y y
(vii) 1% recombination = 1 map unit (m.u.)
If A and B genes are completely linked then A = 1 centiMorgan (cM)
and B will behave as one unit, let us suppose, Y (viii) Crossing over is important in locating the genes
and a and b will also behave as a one unit, let us on chromosome. The genes are arranged
suppose, y. linearly on the chromosome. This sequence and
P: YY × yy
the relative distances between various genes is
graphically represented in terms of
recombination frequencies or cross over values
F1 : (COV). This is known as linkage map of
Yy
chromosome. Distance or cross over units are
called centiMorgan (cM) or map unit. Term
F2 : YY : Yy : yy centiMorgan is used in eukaryotic genetics
and map unit in prokaryotic genetics.
Genotypic ratio = 1 : 2 : 1
Phenotypic ratio = 3 : 1
Test cross : Note: Linkage group :
P : YY × yy 1. It represents all the genes present on the same
chromosome which gets inherited as a group, i.e.,
during meiosis they move as a unit rather than
Test cross independently. The existence of linkage group is the
F1 : Yy reason that some trait do not comply with Mendel’s
Test Cross Result : independent assortment principle.
Y y Number of linkage group in an organism = Haploid
number of chromosomes. e. g ., For,
y Yy yy (a) Pisum sativum, 2n = 14
Number of linkage group = 7
\ Both phenotypic and genotypic ratio = 1: 1 (b) Oryza sativa, 2n = 24
2. Incomplete Linkage :
(i) The genes are placed at greater distance so, there (c) Drosophila, 2n = 8
are more chances of crossing over. Number of linkage group = 4
(ii) (a) Distance between the genes (d) Human female, 2n = 46 (44 + XX),
µ Crossing over Number of linkage group = 23
(b) Distance between the genes (e) Human male, 2n = 46 (44+XY),
µ Percentage of recombinations
(f) Number of linkage group for prokaryotes = 1
1
(iii) Intensity of linkage µ 2. Factors affecting crossing over :
distance between genes
(i) Distance between the genes is directly
(iv) cis-arrangement of genes is shown below : proportional to crossing over.
A B (ii) Cross over decreases with age.
1 Homologous pair (iii) X-ray and temperature increases crossing over.
of chromosomes
1¢ (iv) Centromere and heterochromatin positions
a b decreases crossing over.
trans-arrangement of genes is shown below :
A b
1 Homologous pair
of chromosomes
1¢
a B
(v) One cross over reduce the frequency of other Sex Determination in Honey Bee
cross over in its vicinity which is called as The sex determination in honey bee is based on the
interference. number of sets of chromosomes an individual receives. An
(vi) If double cross-over is absent then interference offspring formed from the union of a sperm and an egg
= 100% develops as a female (queen or worker), and an unfertilised
(vii) If the actual double cross-over value equals the egg develops as a male (drone) by means of parthenogenesis.
expected double cross-over value then This means that the males have half the number of
coincidence = 100% chromosomes than that of a female. The females are diploid
(viii) Coefficient of coincidence having 32 chromosomes and males are haploid, i. e., having
% of actual double cross - over 16 chromosomes. This is called as haplodiploid
= sex-determination system or arrhenotoky and has
% of expected double cross - over
special characteristic features such as the males
produce sperms by mitosis, they do not have father
SEX DETERMINATION and thus cannot have sons, but have a grandfather
and can have grandsons.
The initial clue about the genetic/ chromosomal
mechanism of sex determination can be traced back to Parents Female Male
some of the experiments carried out in insects. 32 16
I. Chromosomal Basis of Sex Determination Meiosis Mitosis

1. The cytological observations made in a number of
insects led to the development of the concept of Gametes : 16 16 16
genetic/chromosomal basis of sex-determination.
2. Henking (1891) could trace a specific nuclear structure
all through spermatogenesis in a few insects, and it was F1 : Male Female
also observed by him that 50 per cent of the sperm 16 32
received this structure after spermatogenesis, whereas Fig. 27.6 Sex determination in honey bee
the other 50 per cent sperm did not receive it. Henking
gave a name to this structure as the X body but he II. Non-allosomic genetic sex determination : It is
could not explain its significance. Further due to the fertility factor of F-plasmid in bacteria.
investigations by other scientists led to the conclusion III. Genic Balance or X/A balance theory of sex
that the ‘X body’ of Henking was in fact a chromosome determination: Given by C.B. Bridges. According
and that is why it was given the name X-chromosome. to him, Y chromosome plays no role in sex
3. Chromosomal basis of sex determination is of following determination of Drosophila (But Y-chromosome is
types: important for fertility in males) and it is the ratio
(a) Male Heterogamety: Male produces two types between number of X chromosome and set of autosome
of gametes. Sperm decides the sex of offspring. It is of which determines the sex of fly.
two types:
(i) XO type (XX-XO type): It is observed Chromosome
X/A Ratio Sex Index
in large number of insects like grasshopper constitution
and cockroach (and plants like Dioscorea) 1. AA + XX 2 / 2 = 1. 00 Normal +
(ii) XY type (XX-XY type) : It is observed in 2. AA + XY 1 / 2 = 0. 50 Normal (fertile)
insects like Drosophila and mammals
3. AA + XO 1 / 2 = 0. 50 (Sterile)
including human beings (and plants like
Melandrium) 4. AA + XXX 3 / 2 = 1. 50 Super +
(b) Female Heterogamety: Female produces 5. AAA + XXY 2 / 3 = 0. 67 Intersex
two type of gametes. Egg determines the sex of 6. AAA + XY 1 / 3 = 0. 33 Super
offspring. It is of two types:
(i) ZO type (ZO-ZZ type): It is observed in
insects like butterflies and moths. It was concluded that X/A ratio of > 1.0 expresses super
femaleness, 1.0 femaleness, below 1.0 and above 0.5
(ii) ZW type (ZW-ZZ type) : It is observed
intersexes, 0.5 maleness and < 0.5 supermaleness.
in birds.
Gynandromorph Sex linkage was discovered by Morgan, while working on

Gynandromorph is a sex mosaic (an individual with one inheritance of eye colour in Drosophila. He made three types
half of the body male and the other half female). These are of crosses:
common in Silk moth and Drosophila. Gynandromorphism is Cross-1: The white eyed male ( w ) was crossed with red
developed due to accidental loss of X chromosome from a eyed ( w + ) female. All the flies of F1 generation were found to
2A + XX cell during mitosis. be red eyed. F1 flies were allowed to self breed. In F2
generation both the traits of red eye and white eye appeared in
Gynander
the ratio 3:1 showing that white eye trait is recessive to red eye
A gynander may be male or female with patches of tissues trait.
of other sex on it.
Red eyed female White eyed male
IV. Environmental Mechanism of Sex
Determination: This mechanism was observed by F.
Baltzer in Bonnelia viridis (marine worm). In this organism Parents
w+ w+ w
the sex is undifferentiated in larva. The larva which settle
down in mud, grow up into mature female while those which
settle down near the proboscis of female and become parasite
develop into male. It has been demonstrated that female
secrete certain hormone which induces sex in larva. Crepidula
w+ w w+
and Ophyortocha also have such mechanism.
F1 generation Red eyed female Red eyed male
Note: (carrier)
1. Barr Body : Barr and Bertram (1949) found a
Fig. 27.7 Cross 1 of Morgan—Involving red eyed female
small darkly stained chromatin body Drosophila and white eyed male Drosophila. F1 generation
(heterochromatic) adhered to the nuclear membrane consisted of only red eyed flies.
of nerve cells of female cats but not in male cats. Later
on Barr (1960) observed consistent presence of these Cross-2 : Red eyed females of F1 generation were crossed
chromatin bodies in epidermal cells of buccal and with white eyed male. It is similar to test cross where hybrids
vaginal mucosa, skin cells etc. in females. are cross bred with recessive parents. Morgan obtained red
and white eyed female as well male in equal proportions-1
Lyon’s hypothesis : Lyon (1962) suggested that
red eyed female : 1 white eyed female : 1red eyed male :1
one X chromosome of maternal side becomes coiled,
white eyed male. The test cross indicated that white eye
inert and hetero–pycnotic and forms a barr body.
colour was not restricted to the male fly.
Number of barr bodies is always one less
than the total number of X chromosomes in Red eyed White eyed
hybrid female male
female. Normal male has no barr body.
In polymorphonuclear leucocytes (neutrophils) in
women, the heteropycnotic X chromosome occurs as a w+ w w
round pedunculated body attached to the nucleus. It is
called drum stick (Barr body). A normal female has
1 drum stick per nucleus of neutrophil. In
neutrophils of males drum stick is absent.
Dosage Compensation is the mechanism by which
the expression of X-linked traits is equalized in males
w+ w w w w+ w
which have one X-chromosome, and females, which
have two. In mammals, it is accomplished by the Red eyed White eyed Red eyed White eyed
female female male male
inactivation of one of the X-chromosomes in the (carrier)
somatic cells of females.
Fig. 27.8 Cross 2 of Morgan–Test cross in Drosophila where
SEX LINKED INHERITANCE red and white eyed traits appear in both males and females in
Sex-linkage applies to genes that are located on the sex equal proportions
chromosomes. These genes are considered sex-linked Cross–3 : White eyed females were crossed with red eyed
because their expression and inheritance pattern differ males. It was a reciprocal of cross 1 and so would give the
between males and females. While sex-linkage is not the same similar results as obtained by Mendel. However, Morgan
as genetic linkage, sex-linked genes can be genetically linked. obtained a surprising result. All the males were white eyed
while all the females were red eyed.
White eyed Red eyed (ii) Haemophilia-A (Bleeder’s disease) : The person
female male suffering from this diseases cannot synthesize a normal
blood protein called antihaemophilic globulin (AHG)
required for normal blood clotting (Haemophilia A).
w w w+
Therefore, even a very small cut may lead to
continuous bleeding for a long time. This gene is
located on X chromosome and is recessive. It remains
latent in carrier females.
Haemophilia-B (Christmas disease) : Plasma throm-
boplastin is absent, inheritance is just like Haemophilia
w+ w w+ w w w A.
Red eyed Red eyed White eyed White eyed
XX = Normal +
female female male male XY = Normal
(carrier) (carrier)
All females—Red eyed X h X = Carrier +
All males—White eyed X h X h = Haemophilic + (die before birth or in few years).
X h Y = Haemophilic
Fig. 27.9 Cross 3 of Morgan–involving white eyed female and
red eyed male showing criss–cross inheritance in Drosophila.
Note:
Taking all the crosses into consideration, Morgan came to
the conclusion that eye colour gene is present on the X 1. Sex Limited Traits Sex Influenced Traits
chromosome. X chromosome does not pass directly from one The genes of these traits are These are those autosomal
parent to the offsprings of the same sex but follows a autosomal and found in genes which are influenced
criss-cross inheritance, i. e., it is transferred from one sex to both sexes but express in by the sex of the bearer.
the offspring opposite sex. In other words, in criss-cross one sex only. These traits appear more
inheritance a male transmit his traits to his grand- frequently in one sex than in
son through daughter (Diagynic), while a female the other.
transmits the traits to her granddaughter through Examples : Examples :
son (Diandric). (i) Beard in man. (i) Short index finger in male.
(ii) Milk glands in female. (ii) Pattern baldness
Sex Linkage in Human Beings (iii) Antlers in male deer. (affected by male sex
1. Male passes the X-linked trait to his daughters and (iv) Brilliant plumage in hormone/ testosterone).
peacock.
Y-linked trait to his sons.
2. Female passes the X-linked trait both to sons and 2. Holandric traits: These are Y linked traits which get
daughters. inherited from male to male only, e.g.,
3. X-linked recessive disorders (traits) affect males more (i) Hypertrichosis (hairy pinna)
than females. (ii) Testes determining factor (TDF) gene
4. X-linked dominant disorders (traits) affect both males (iii) Porcupine skin
and females even if the concerned gene is present in a
single copy. MUTATION
Colour blindness and haemophilia (Bleeder’s disease)
Mutation is sudden discontinuous variation due to the
are two common examples of sex-linked diseases in
changes in genes and chromosomes.
human beings.
(i) Colour blindness : This is a human diseases which Type of Mutations
causes the loss of ability to differentiate between red 1. Gene mutations : It is alteration in the sequences of
colour and green colour. The gene for this red-green nucleotide in nucleic acids or any change in the
colour blindness is present on X-chromosome. Colour sequence of triplet bases. If gene mutation arise due to
blindness is recessive to normal vision. change in single base pair of DNA, it is called point
XX = Normal + mutation. Gene mutation occurs by following
XY = Normal methods:
X c X = Carrier + (a) Frame shift mutation (Gibberish
X c X c = Colourblind + mutation) Deletion or addition of one or more
X c Y = Colourblind bases leads to the change in the whole reading
frame of a gene.
(i) Deletion : Removal of one or more bases 2. Chromosomal mutation (Chromosomal

from nucleotide chain. Aberrations) : The change in the chromosome
(ii) Insertion or addition: Addition of one morphology is called chromosomal aberration.
or more bases in nucleotide chain. Structural changes in the chromosomes occur during
(b) Substitution: The replacement of one base by cell division mostly. There are four types of
another. It is of two types: chromosomal rearrangements :
(i) Transition : When a purine base (A or G) (a) Deficiency or Deletion : Terminal
is substituted by another purine base or deletion—It is due to loss of a terminal segment
pyrimidine base (T or C) is substituted by of chromosome or Interstitial Deletion—It is
another pyrimidine base. due to loss of a intercalary part of chromosome,
(ii) Transversion : Substitution of a purine e. g ., Cri–du–Chat syndrome (short arm of
base with a pyrimidine base or vice versa. chromosome 5 loses a part).
(b) Duplication : Occurs due to addition of a part
T
of chromosomes so that a gene or set of genes is
represented twice, e. g ., Bar eye in Drosophila.
(c) Translocation : It involves shifting of a part of
A G one chromosome to another non–homologous
chromosome. So new recombinant
chromosomes are formed, as this induce faulty
pairing of chromosomes during meiosis. An
C important class of translocation is known as
Fig. 27.10 Transition (® ) and transversion ( ) reciprocal translocation or segmental
interchanges, which involves mutual exchange
(c) Tautomerization : The purines and of chromosome segments between
pyrimidines in DNA and RNA may exist in non-homologous chromosome, i. e.,
several alternate forms or tautomers. illegitimate crossing over. Chronic
Tautomerization occur through rearrangement myelogenous leukemia (CML) occur due to
of electrons and protons. translocation of segments of chromosomes 9
(d) Silent mutation : It is the change in codon and 22. Chromosome 22 is called
that does not change the amino acid coded for. philadelphia chromosome.
e. g ., (d) Inversion : Change in linear order of genes by
UCA(Serine) ¾ mutation
¾ ¾¾® UCU(Serine) rotation of a section of chromosome by 180°.
(e) Non-sense mutation: Such mutations arise Inversion occurs frequently in Drosophila as a
when a normal codon, coding for an amino acid result of X-ray irradiation. They may be of two
is changed into a chain terminating codon types:
(UAG, UAA, UGA) resulting in the production of (i) Paracentric : Inversion without
an incomplete polypeptide. involving centromere (Inverted segment
e. g ., UGC (Cys) ¾® UGA (Stop) does not carry centromere).
Non-sense mutations rarely go unnoticed because the (ii) Pericentric : Inversion involving
incomplete or shorter protein formed, is generally centromere.
inactive.
(f) Mis-sense mutation: Change in base in a
codon, producing a different amino acid at the
specific site in a polypeptide is mis-sense
mutation, e. g ., sickle cell anaemia is caused by
mis-sense mutation.
GAG (Glu) ¾¾® GUG (Val)
Suppose A and B are different genomes. The two

1 2 3 4 5 6 7 8 9 10 11 12 diploid organisms should have AA and BB chromosome
sets. Therefore, an allotetraploid can be represented as
Two non-homologous chromosomes
AABB. Such polyploids are the result of doubling of
chromosomes in F1 hybrids derived from different or
1 2 4 5 6 7 8 9 10 11 12 related species.
Examples of allopolyploids :
Deletion (i)
Deletion Raphanus sativus × Brassica oleracea
(Radish) var. capitata
1 2 3 34 5 6 7 8 9 10 11 12 [AA, 2n = 2x = 18] (Cabbage)
[BB, 2n = 2x = 18]
Addition
Duplication AB (Sterile F1 hybrid)
7 8 3 4 5 6 1 2 9 10 11 12 Chromosome
doubling
Translocation
1 4 3 2 5 6 7 8 9 10 11 12
Raphanobrassica
(Rabbage)
Inversion [AABB, 2n = 4x = 36]
Raphanobrassica was developed by G.D. Karpechenko.
Fig. 27.11 Structural changes in chromosome
3. Mutation due to numerical change in Note:

chromosome number or Genomatic mutation: 1. AABB = Allotetraploid = Amphidiploid
It is of two types, euploidy and aneuploidy. 2. n= Haploid number
Euploidy is the condition in which the chromosome 3. x= Monoploid number
number is exact multiple of a genome, e. g ., diploidy
and polyploidy. (ii)
Triticum durum × Secale cereale
Polyploidy : It is the condition of possessing more (Durum wheat) (Rye)
than two complete sets of chromosomes. The failure of [AABB, 2n = 4x = 28] [FF, 2n = 2x = 14]
cytokinesis after telophase of cell division result in an
increase in the whole set of chromosome.
ABF (Sterile F1 hybrid)
Type of Polyploid
(i) Autopolyploid : In this case the same basic set of Chromosome
chromosome get multiplied more than twice, e. g ., doubling
AAA–, autotriploid and BBBB– autotetraploid.
Autotriploid occur naturally in banana and grapes and Hexaploid Triticale
autotetraploid occur in apple and corn. [AABBFF, 2n = 6x = 42]
(iii)
Note:
1. In polyploid organisms, the monoploid number Triticum aestivum × Secale cereale
(Bread wheat) (Rye)
(x) is the basic set of chromosomes.
[AABBDD, 2n = 6x = 42] [FF, 2n = 2x = 14]
2. Autopolyploids can be produced artificially by treating
axillary buds with colchicine (Obtained from
Colchicum autumnale, of Liliaceae family) which leads ABDF (Sterile F1 hybrid)
to chromosome doubling.
Chromosome
(ii) Allopolyploid : It represents hybrid whose doubling
chromosome sets are derived from two or more Octaploid Triticale
different genomes.
[AABBDDFF, 2n = 8x = 56]
(iv) Evolution of wheat : (c) Tetrasomy : ( 2n + 2) = 11¢ 22¢ 22¢ 33¢

Triticum boeticum – Wild einkorn Tetrasomy is formed by the fusion of two
(or Triticum aegilopoides) gametes each having similar extra chromosome,
( n + 1) and ( n + 1).
(ii) Hypoploidy: It occurs due to the decrease in
chromosome number.
Types of hypoploidy :
Triticum monococcum × Aegilops speltoides (a) Monosomy : ( 2n - 1) = 11¢ 2¢ 33¢
(Cultivated einkorn) (Goat grass)
Monosomy is formed by the fusion of a normal
[AA, 2n = 2x = 14] [BB, 2n = 2x = 14]
gamete ( n ) and a gamete with a deficient
chromosome ( n - 1).
(b) Double monosomy : ( 2n - 1 - 1) = 1 2 33¢
AB (Sterile hybrid) (c) Nullisomy : ( 2n - 2) = 11¢ 33¢
Nullisomy is formed by the fusion of two
Chromosome gametes deficient in the same chromosome,
doubling ( n - 1) and ( n - 1).
Triticum turgidum × Aegilops squarrosa
(emmer wheat) Note:
[DD, 2n = 2x = 14] 1. Trisomics were first obtained by Blakeslee (1924) in
[AABB, 2n=2x=28]
Datura stramonium (Jimson weed, 2n = 24). In
human beings, Down’s syndrome or mongolism
ABD (Sterile hybrid) is due to trisomy of chromosome 21, Patau’s
syndrome is due to trisomy of chromosome 13 and
Edward's Syndrome is due to trisomy of
Chromosome
chromosome 18.
mutation
Slight
doubling
2. Polyploids generally show increased size (w.r.t. cell
and organism) i. e., show gigantism (Gigas effect)
Triticum aestivum
(Bread wheat)
[AABBDD, 2n = 6x = 42] Mutagens
Mutations can be artificially produced by certain agents
called mutagens or mutagenic agents. Following two major
Triticum durum types of mutagens:
(Durum wheat) (1) Physical mutagens
[AABB, 2n = 4x = 28] (2) Chemical mutagens
1. Physical mutagens : Radiations are the most
Aneuploidy : It is the increase or decrease of one or few important physical mutagens. H.J. Muller used X-rays
chromosomes from the original diploid number of for the first time to increase the rate of mutation in
chromosomes. It develops due to the non-disjunction Drosophila, opened an entirely new field of inducing
of homologous chromosome at the time of meiosis, mutations. So, Muller is considered as father of
as a result of which abnormal gametes are formed. Actinobiology.
Aneuploidy is of two types : The main source of spontaneous mutations are the
(i) Hyperploidy : It occurs due to the increase in number natural radiations coming from cosmic rays of the sun.
of chromosomes. The radiations are basically of two types :
Suppose, 2n = 6 = 11¢ 22¢ 33¢ (a) Ionizing radiations
144444 42444444 3
Three homologous pairs of chromosomes (b) Non-ionizing radiations
Types of hyperploidy :
They occur in small amounts in the environment and
(a) Trisomy : ( 2n + 1) = 11¢ 22¢ 2 33¢ are known as background radiations. The following are
Trisomy is formed by the fusion of a normal biological effects of radiations.
gamete ( n ) with a gamete having an extra (a) Effects of ionizing radiations : The ionizing
chromosome ( n + 1). radiations include X-rays, g-rays, a-rays and
(b) Double trisomy : b-rays. Ionizing radiations cause breaks in the
( 2n + 1 + 1) = 11¢ 1 22¢ 2 33¢ chromosome. These cells then show abnormal
cell divisions. If these include gametes, they may These disorders are transmitted to the offspring on the
be abnormal and even die prematurely. same lines as we have studied in the principle of
Different types of cancers may result due to inheritance. The pattern of inheritance of such
radiations. The frequency of induced mutations Mendelian disorders can be traced in a family by the
is directly proportional to the doses of pedigree analysis.
radiations. 2. Most common and prevalent Mendelian disorders are
(b) Effect of non-ionizing radiations : The Haemophilia, Cystic fibrosis, Sickle-cell anaemia,
non-ionizing radiations have longer Colour blindness, Phenylketonuria, Thalassemia, etc.
wavelengths but carry lower energy. This 3. It is important to mention here that such Mendelian
energy is insufficient to induce ionization. disorders may be dominant or recessive. By pedigree
Therefore, non-ionizing radiations such as UV analysis one can easily understand whether the trait in
light do not penetrate beyond the human skin. question is dominant or recessive. Similarly, the trait
Thymine (Pyrimidine) dimer formation is may also be linked to the sex chromosome as in case of
a major mutagenic effect of UV rays that haemophilia. It is evident that this X-linked recessive
disturbs DNA double helix and thus DNA trait shows transmission from carrier female to male
replication. progeny.
4. Examples of Mendelian disorders.
Note: (i) Colour blindness : It is a sex-linked
1. Actinobiology is the study of effects of radiation in the recessive disorder due to defect in either red
living organisms. or green cone of eye resulting in failure to
2. X-ray as mutagen for the first time in plants was used discriminate between red and green colour. This
by Stadler in Hordeum vulgare (barley) defect is due to mutation in certain genes
present in the X chromosome. It occurs in about
2. Chemical mutagens : These are more injurious than 8 per cent of males and only about 0.4 per cent
radiations. The first chemical mutagen used was of females. This is because the genes that lead to
mustard gas by C. Auerbach et. al. during world war red-green colour blindness are on the X
II. Chemical mutagens are placed into two groups. chromosome. Males have only one X
(a) Those which are mutagenic to both replicating chromosome and females have two. The son of a
and non-replicating DNA such as nitrous acid. woman who carries the gene has a 50 per cent
(b) Those which are mutagenic only to replicating chance of being colour blind. The mother is not
DNA such as acridine dyes and base analogues. herself colour blind because the gene is
recessive. That means that its effect is
Cytoplasmic Inheritance
suppressed by her matching dominant normal
Cytoplasmic inheritance or non-chromosomal gene. A daughter will not normally be colour
(extranuclear) inheritance (Correns, 1909) is the passage of blind, unless her mother is a carrier and her
traits from parents to offspring through structures present father is colour blind.
inside the cytoplasm of contributing gametes. The genes or
(ii) Haemophilia : This sex linked recessive
factors controlling cytoplasmic inheritance are called plasma
disease, which shows its transmission from
genes or extranuclear genes. They are collectively called
unaffected carrier female to some of the male
plasmon. Plasma genes occur in plastids, mitochondria,
progeny has been widely studied. In this
plasmids and some special particles like kappa particles
disease, a single protein that is a part of the
(Paramoecium), etc. In higher organisms cytoplasmic
cascade of proteins involved in the clotting of
inheritance is also called maternal inheritance because the
zygote receives most of its cytoplasm from the ovum. blood is affected. Due to this, in an affected
Therefore, cytoplasmic inheritance is usually individual a simple cut will result in non-stop
uniparental. Reciprocal crosses do not yield the bleeding. The heterozygous female (carrier) for
same results. haemophilia may transmit the disease to sons.
The possibility of a female becoming a
haemophilic is extremely rare because mother
GENETIC DISORDERS
of such a female has to be at least carrier and the
These disorders are broadly cateorised into-Mendelian father should be haemophilic (unviable in the
disorders and Chromosomal disorders. later stage of life). The family pedigree of Queen
I. Mendelian Disorders Victoria shows a number of haemophilic
descendents as she was a carrier of the disease.
1. Mendelian disorders are mainly determined by
alteration or mutation in the single gene.
(iii) Sickle-cell anaemia : This is an autosome linked recessive trait that can be transmitted from parents to
the offspring when both the partners are carrier for the gene (or heterozygous). The disease is controlled by a
single pair of allele, Hb A and Hb S . Out of the three possible genotypes, only homozygous individuals for Hb S
(Hb S Hb S ) show the diseased phenotype. Heterozygous (Hb A Hb S ) individuals appear apparently unaffected but
they are carrier of the disease as there is 50 per cent probability of transmission of the mutant gene to the
progeny, thus exhibiting sickle-cell trait . The defect is caused by the substitution of Glutamic acid (Glu) by Valine
(Val) at the sixth position of the beta globin chain of the haemoglobin molecule. The substitution of amino acid in
the globin protein results due to the single base substitution at the sixth codon of the beta globin gene from GAG
to GUG. The mutant haemoglobin molecule undergoes polymerisation under low oxygen tension causing the
change in the shape of the RBC from biconcave disc to elongated sickle like structure.
(iv) Phenylketonuria: This inborn error of metabolism is also inherited as the autosomal recessive
trait. The affected individual lacks an enzyme that converts the amino acid phenylalanine into tyrosine. As a
result of this phenylalanine is accumulated and converted into phenylpyruvic acid and other derivatives.
Accumulation of these in brain results in mental retardation. These are also excreted through urine because of its
poor absorption by kidney.
(v) Thalassemia : This is also an autosome-linked recessive blood disease transmitted from parents to the
offspring when both the partners are unaffected carrier for the gene (or heterozygous). The defect could be due
to either mutation or deletion which ultimately results in reduced rate of synthesis of one of the globin chains (a
and b chains) that make up haemoglobin. This causes the formation of abnormal haemoglobin molecules
resulting into anaemia which is characteristic of the disease. Thalassemia can be classified according to which
chain of the haemoglobin molecule is affected. In a Thalassemia, prdouction of a globin chain is affected while
in b Thalassemia, production of b globin chain is affected. a Thalassemia is controlled by two closely linked
genes HBA 1 and HBA2 on chromosome 16 of each parent and it is observed due to mutation or deletion of
one or more of the four genes. The more genes affected, the less alpha globin molecules produced. While b
Thalassemia is controlled by a single gene HBB on chromosome 11 of each parent and occurs due to mutation
of one or both the genes. Thalassemia differs from sickle-cell anaemia in that the former is a
quantitative problem of synthesising too few globin molecules while the latter is a qualitative
problem of synthesising an incorrectly functioning globin.
(vi) Cystic Fibrosis : It is due to an autosomal recessive gene. Viscous mucus collects in lungs which makes
breathing difficult. It affects liver and pancreas also.
II. Chromosomal disorders

1. The chromosomal disorders are caused due to absence or excess or abnormal arrangement of one or more
chromosomes.
2. Failure of segregation of chromatids during cell division cycle results in the gain or loss of a chromosome(s), called
aneuploidy. For example, Down’s syndrome results in the gain of extra copy of chromosome 21. Similarly, Turner’s
syndrome results due to loss of an X chromosome in human females. Failure of cytokinesis after telophase stage of cell
division results in an increase in a whole set of chromosomes in an organism and, this phenomenon is known as
polyploidy. This condition is often seen in plants.
3. The total number of chromosomes in a normal human cell is 46 (23 pairs). Out of these 22 pairs are autosomes and one
pair of chromosomes are sex chromosome. Sometimes, though rarely, either an additional copy of a chromosome may
be included in an individual or an individual may lack one of any one pair of chromosomes. These situations are known
as trisomy or monosomy of a chromosome, respectively. Such a situation leads to very serious consequences in the
individual.
4. Examples of chromosomal disorders.
(i) Down’s Syndrome : The cause of this genetic disorder is the presence of an additional copy of the
chromosome number 21 (trisomy of 21). This disorder was first described by Langdon Down (1866). The
affected individual is short statured with small round head, furrowed tongue and partially open mouth. Palm is
broad with characteristic palm crease. Physical, psychomotor and mental development is retarded.
(ii) Klinefelter’s Syndrome : This genetic disorder is also caused due to the presence of an additional copy of
X-chromosome resulting into a karyotype of 47, XXY (44+XXY). Such an individual has overall masculine
development, however, the feminine development (development of breast, i.e., Gynaecomastia) is also
expressed. Such individuals are sterile.
(iii) Turner’s Syndrome : Such a disorder is caused due to the absence of one of the X chromosomes, i.e., 45 with
XO( 44 ´ XO). Such females are sterile as ovaries are rudimentary besides other features including lack of other
secondary sexual characters.
Pedigree Analaysis
1. Pedigree means ancestral history.
2. Pedigree analysis is employed in case of humans and domesticated animals.
3. It takes the help of pedigree chart which uses certain symbols as shown below :
(i) = Unaffected male (ii) = Unaffected female
(iii) = Sex unspecified (iv) = Affected individuals, = Carrier female
(v) = Mating (vi) = Mating between relatives

(consanguineous mating)
(vii) = Parents above and children below (viii) = Parents with male child affected with
(in order of birth-left to right) disease
(ix) 5 = Five unaffected offsprings (x) or = Monozygotic twin
(xi) or or = Dizygotic twin
4. In pedigree analysis the inheritance of a particular trait is represented in the family tree over generations.
5. In human genetics, pedigree study provides a strong tool, which is utilised to trace the inheritance of a specific trait,
abnormality or disease.
Hardy-Weinberg Equilibrium Principle 3. This principle is applicable only when there is :

1. Given by G.H. Hardy and W. Weinberg. (a) No mutation, (b) No genetic drift, (c) No genetic
2. The principle states that the allele frequencies in a recombination, (d) No natural selection pressure.
population are stable and is constant from generation 4. According to this principle, if p = dominant allele
to generation. The gene pool remains constant. This is frequency and q = recessive allele frequency then :
called genetic equilibrium. p + q = 1 or p 2 + 2 pq + q 2 = 1
Section-A : Questions Based on NCERT Textbook

Mendel’s Laws of Inheritance 7. Why did Mendel continue some of his experiments to
1. What do we mean by monohybrid cross and dihybrid the F2 or F3 generations ?
cross ? (a) To observe whether or not a recessive trait would
(a) A monohybrid cross is performed for one reappear
generation whereas dihybrid cross is performed for (b) To obtain a large number of offsprings
two generations (c) To observe whether or not the dominant trait
(b) A monohybrid cross involves a single parent, would reappear
whereas a dihybrid cross involved two parents (d) To describe the frequency of recombination
(c) A monohybrid cross produces a single progeny 8. The phenotypic expression of an organism may be
whereas a dihybrid cross produce two progenies affected if the modified allele produce :
(d) A monohybrid cross involves individuals with one (a) A less efficient enzyme
heterozygous character, whereas a dihybrid cross (b) A non-functional enzyme
involves individuals with two heterozygous (c) No enzyme at all
characters (d) Any of the above
2. Mendel conducted hybridisation experiments on 9. The unmodified allele represents the ________ allele
garden peas for seven years from : and the modified allele is generally the ________ allele.
(a) 1842-1847 (b) 1856-1863 (a) Mutant, wild
(c) 1863-1873 (d) 1820-1831 (b) Recessive, recessive
3. What can be the probable reason that Mendel selected (c) Dominant, dominant
garden pea (Pisum sativum) for his experiments ? (d) Dominant, recessive
(a) It is an annual plant 10. Among the seven characters of pea as studied by
(b) Pea possess clear contrasting traits and flowers Mendel, the number of traits related to pod and seed
show self pollination, thus true breeding respectively are :
(c) It is easy to artificially cross-pollinate the pea (a) 2, 2 (b) 3, 2
flowers (c) 2, 3 (d) 4, 3
(d) All of the above 11. The genes which code for a pair of contrasting traits are
4. The reason(s) for Mendel’s success to put forward the called :
principles of heredity is/are : (a) Alleles (b) Polygene
(a) His experiments had a large sampling size (c) Multiple alleles (d) Pseudoallele
(b) He experimented on successive generations of the 12. Which of the following is a dominant trait choosen by
test plants Mendel for pea plant ?
(c) His choice of contrasting traits (a) Green pod (b) Green seed
(d) More than one option is correct (c) Yellow pod (d) Constricted pod
5. Mendel selected _________ characters with ________ 13. The reasons for Mendel’s success was :
pea plant varieties : (a) Statistical records of experiments
(a) Fourteen, seven (b) Seven, fourteen (b) Consideration of one character at a time
(c) Three, seven (d) Seven, three (c) Use of pure lines, i. e., pure breeding varieties
6. What was the most significant conclusion that Mendel (d) All of the above
drew from his experiments with pea plants ? 14. Which scientists are credited with the rediscovery of
(a) Traits are inherited as discrete units and are not the Mendel’s work ?
results of blending (a) Sutton and Boveri
(b) There is considerable genetic variation in garden (b) de Vries, Correns and Tschermak
pea
(c) Bateson and Punnet
(c) Recessive genes occur more frequently in the F1
(d) Morgan and Bridges
generation than do dominant ones
(d) Genes are composed of nucleotides
15. Mendel’s work remained unrecognised till 1900 for (c) Factors occur in pairs
which of the following reasons ? (d) More than one option is correct
(a) His mathematical approach to explain biological 23. The law of dominance explains :
phenomena was unacceptable to many biologists (a) The expression of only one of the parental
of his time chracters in a monohybrid cross in the F1 and
(b) He could not provide the physical proof for the expression of both the parental character in the F2
existence of factors (genes) generation
(c) He did not beleived in the ‘blending concept’ (b) It explains the phenotypic proportion of 1 : 2 : 1 in
(d) All of the above the F2
Inheritance of One Gene (c) Both (a) and (b)
(d) Codominance and incomplete dominance in some
16. Two plants are crossed, resulting in offspring with a
organisms
3 : 1 ratio for a particular trait. What does this mean ?
24. The law of segregation is based on the fact that :
(a) The parents were true-breeding for contrasting
(a) Alleles do not show blending
traits
(b) The paired factors or alleles segregate from each
(b) Both the parents were heterozygous for a single
other such that a gamete receives the two factors as
trait
in the original paired from
(c) The blending of traits has occurred
(c) Homozygous parent produce similar types of
(d) Each offspring has the same alleles for each of the
gametes whereas heterozygous ones produce two
two traits
types of gametes each having one allele with
17. Which of the following represents a test cross ?
unequal proportion
(a) TT ´ tt (b) Tt ´ tt
(d) All of the above
(c) TT ´ TT (d) Both (a) and (b)
25. An example of incomplete dominance is the flower
18. A typical monohybrid test-cross ratio is : colour inheritance in :
(a) 1 : 1 (b) 1 : 1 : 2 (a) Mirabilis jalapa (Four O¢ clock plant)
(c) 2 : 3 (d) 1 : 1 : 1 : 1 (b) Antirrhinum majus (Dog flower or Snapdragon)
19. Which of the following represents an outcross ? (c) Both (a) and (b)
(a) Tt × TT (b) TT × tt
(d) Hibiscus
(c) Tt × tt (d) All of these
26. A true-breeding line or pure line is one that has
20. When crossing an organism that is homozygous undergone continuous ____________ pollination and
recessive for a single trait with a heterozygote, what is show the __________ trait for several generations.
the chance of producing an offspring with the
(a) Self, stable
homozygous recessive phenotype ?
(b) Fluctuating, stable
(a) 25% (b) 50%
(c) Cross, fluctuating
(c) 0% (d) 75%
(d) Self, fluctuating
21. Mendel’s observation of the segregation of alleles in
27. Both the phenotypic and genotypic ratio is 1 : 2 : 1 in
gamete formation has its basis in which of the
the F2 generation of :
following stages of cell division ?
(a) Incomplete dominance
(a) Anaphase of mitosis
(b) Codominance
(b) Metaphase of mitosis
(c) Dominance
(c) Anaphase-I of meiosis
(d) Both (a) and (b)
(d) Anaphase-II of meiosis
28. The phenotypic expression of the character in the
22. Which of the following is correct for law of dominance
hybrid or F1 individual is intermediate of the two alleles
proposed by Mendel ?
in :
(a) Characters are controlled by discrete units called
(a) Codominance
factors
(b) Multiple allelism
(b) In dissimilar pair of factors one member of the pair
(c) Incomplete dominance
dominates the other
(d) Lethality
29. The law of dominance is applicable in : 38. In case, more than one phenotype is influenced by the
(a) Seed colour inheritance in pea same gene :
(b) Flower colour inheritance in Mirabilis jalapa (a) Dominance is not an autonomous feature of a gene
(c) Inheritance of starch grain size in pea or the product that it has information for
(d) Roan coat colour inheritance in some cattles (b) It depends as much on the gene product and
30. Which of the following is true for test cross ? production of a particular phenotype from this
(a) Involves crossing of one heterozygous and one product as it does on the particular phenotype that
homozygous genotype for different traits of the we choose to examine
same character (c) Both (a) and (b)
(b) Involves crossing of two homozygous genotypes (d) One of the phenotype always leads to lethality
(c) Involves crossing of two heterozygous genotypes 39. The haploid organism for one gene pair will show
(d) All of the above which phenotypic ratio instead of 3 : 1 ?
31. Progenes with O and AB blood groups are not possible (a) 2 : 1 (b) 1 : 1
from which of the following mating of parents ? (c) 4 : 1 (d) 1 : 2
(a) O ´ AB (b) A ´ AB 40. ABO-blood group in human is an example of :
(c) A ´ B (d) B ´ AB (a) Codominance (b) Multiple allelism
32. Which of the following blood group possess H-antigen? (c) Both (a) and (b) (d) Incomplete dominance
(a) A and B (b) AB 41. To determine the genotype of a tall plant of F2
(c) O (d) All of these generation, Mendel crossed this plant with a dwarf
plant. This cross represents a :
33. A child with O-blood group has mother with B-blood
group and father also with B-blood group. The (a) Back cross (b) Reciprocal cross
genotype of mother and father respectively will be : (c) Test cross (d) Out cross
(a) I B I B , I o I o (b) I o I o , I o I o 42. What will be the ratio of offsprings in a cross between
the red flowered and pink flowered Mirabilis jalapa
(c) I B I o , I B I o (d) I A I B , I A I A
plants ?
34. The possible blood group in children from the parents
(a) Red : Pink = 1 : 1 (b) Red : Pink = 3 : 1
with B and O-blood groups are :
(c) Red : Pink = 1 : 3 (d) Red : Pink = 2 : 3
(a) All O (b) Both B and O
43. Mendel gave the law of segregation or purity of
(c) All B (d) A and B
gametes on the basis of :
35. A child with mother of A-blood group and father of AB-
(a) Dihybrid cross (b) Monohybrid cross
blood group, will not have the following blood group :
(c) Out cross (d) Back cross
(a) O (b) B
44. How many types of genotypes and phenotypes
(c) AB (d) A
respectively are possible in the ABO-blood group
36. Which of the following is not an example of multiple system in human beings ?
allelism ?
(a) 4, 6 (b) 6, 4
(a) ABO-blood group in humans
(c) 3, 2 (d) 2, 3
(b) Coat colour in rabbits
45. Which of the following blood group(s) is/are possible
(c) Self incompatibility in plants when both the parents possess AB-blood group ?
(d) Skin colour in humans (a) A, B and AB (b) A, B, O
37. Consider the cross for the pleiotropic gene (R) in pea (c) B only (d) A only
seed :
P : RR × rr
Inheritance of two Genes
(Large starch grain) (Small starch grain) 46. An organism has two unlinked genes X and Y. Its
gentotype is XxYy. Which of the following genotypes is
Accordingly which of the following is true for F1 hybrid: possible in a gamete from this organism ?
(a) It posses intermediate sized starch grains (a) XX (b) XxYy
(b) It posses round seeds (c) Xy (d) Yy
(c) Incomplete dominance can be observed
(d) More than one option is correct
47. The fact that the pea plant traits studied by Mendel 54. The haploid organism for two gene pairs will show
obeyed the principle of independent assortment most what phenotypic ratio instead of 9 : 3 : 3 : 1 ?
probably indicates which of the following ? (a) 1 : 3 : 1 (b) 9 : 3 : 6
(a) The formation of gametes in plants occur by (c) 1 : 1 : 1 : 3 (d) 1 : 1 : 1 : 1
mitosis only 55. A cross is made between a pea plant with round and
(b) All the genes controlling the traits were located on yellow seeds (RrYy) and a plant with wrinkled and
the same chromosome yellow seeds (rrYy).
(c) All the genes controlling the traits behaved as if Which one is correct w.r.t. the chances of occurrence of
they were located on different chromosomes phenotypes of offsprings in F1 generation ?
(d) None of the traits obeyed the law of segregation
Round and Round and Wrinkled Wrinkled
48. Mendel’s law of independent assortment has its basis in Yellow Green and Yellow and Green
which of the following events of meiosis-I ?
(a) 2/8 1/8 2/8 3/8
(a) Synapsis of homologous chromosomes
(b) Crossing over at pachytene (b) 4/8 1/8 2/8 1/8
(c) Alignment of tetrads at the equator 3/8 1/8 3/8 1/8
(c)
(d) Separation of homologs at anaphase-I
(d) 2/8 2/8 3/8 1/8
49. Mendel’s observation of independent assortment has
its basis in which of the following events of meiosis-I
56. The law of independent assortment can be explained
(a) Separation of homologs at anaphase-I
with the help of :
(b) Metaphase-I
(a) Test cross (b) Outcross
(c) Crossing over
(c) Monohybrid cross (d) Dihybrid cross
(d) Synapsis
57. The law of independent assortment can be explained
50. Black fur in mice (B) is dominant over brown fur (b).
with the help of :
Short tail (T) are dominant to long tail (t). What
(a) Monohybrid cross
fraction of the progeny of cross : BbTt ´ BBtt will be
expected to have black fur with long tails ? (b) A dihybrid cross where both the genes are
completely linked
(a) 1/2 (b) 1/16
(c) A trihybrid cross where all the genes are unlinked
(c) 3/16 (d) 1/3
(d) Monohybrid cross with unlinked genes
51. In the cross : AaBb ´ AaBb, what is the probability of
producing an organism with the genotype AABB ? 58. A plant with genotype RrYy is back crossed with a
double recessive parent. Accordingly which of the
(a) 1/16 (b) 3/16
following phenotypic and genotypic ratio comes up in
(c) 1/2 (d) 1/4
the next generation ?
52. The two true-breeding stocks of pea plants are crossed.
One parent has violet-axial flowers and the other has Phenotypic ratio Genotypic ratio
white-terminal flowers; all F1 individuals have (a) 1:1 1:1:1:1
violet-axial flowers. The genes for flower colour and
(b) 1:1:1:1:1:1:1:1 1:1:1:1:1:1:1:1
location assort independently. If 1,000 F2 offsprings
(c) 1:1:1:1 1:1:1:1
resulted from the cross, approximately how many of
them would you expect to have violet-terminal (d) 1:1:1 1:1:1
flowers?
59. What is the probability of occurrence of homozygous
(a) 250 (b) 562 individuals for both characters in F2 generation of a
(c) 185 (d) 750 typical dihybrid cross ?
53. A total of 512 seeds are collected from the cross (a) 3/4 (b) 4/16
AaBb ´ AaBb. Find the number of plants produced with (c) 5/16 (d) 2/4
the first dominant and second recessive trait :
60. The Punnett square shown below gives a pattern of
(a) 35 (b) 350 inheritance in dihybrid cross where yellow (Y) is
(c) 96 (d) 285 dominant over green (y) seeds and round (R) is
dominant over wrinkled (r) seeds.
YR Yr yR yr (d) y, y + , w, w+ , m and m+ genes are autosomal

65. Which of the following is true for the location of few
YR A B C D
genes of Drosophila studied by T.H. Morgan ?
Yr E F G H (a) The distance between the genes y + and w+ is
greater than the distance between the genes w+
yR ‘X’ J K L and m+
(b) The distance between the genes y + and w+ is same
yr M N O P
as the distance between the genes w+ and m+
The plant of type ‘X’ will produce seeds with the (c) The distance between the genes w+ and m+ is
genotype identical to seeds produced by the plants of greater than the distance between the genes y +
the type : and w+
(a) C (b) N (d) All are incorrect
(c) B (d) K Linkage and Recombination
Chromosomal Theory of Inheritance 66. How many maximum types of gametes are produced
61. The chromosomal maps or genetic maps were first from an individual with the genotype AaBbCc if the last
prepared by : two genes (B and C) are incompletely linked :
(a) Sturtevant (b) Morgan (a) 8 (b) 4
(c) Bateson (d) Punnett (c) 3 (d) 2
62. The chromosomal theory of inheritance was put 67. A test cross of F1 individuals produced the following
forward by : number of offsprings :
(a) Sutton and Boveri (b) Bateson and Punnett ++/ab = 40 +b/ab = 10
(c) Morgan (d) de Vries a+/ab = 10 ab/ab = 40
63. A comparison between A and B is given. Identify A and What is the distance between the genes A and B ?
B: (a) 20 map unit
(b) 10 map unit
A B
(c) 40 map unit
Occur in pairs Occur in pairs (d) 80 map unit
Segregate at the time of gamete Segregate at gamete formation 68. Recombination frequency is :
formation such that only one of and only one of each pair is
(a) Always < 50% (b) Always > 50%
each pair is transmitted to a transmitted to a gamete.
gamete. (c) £ 50% (d) 100%
Independent pairs segregate One pair segregates 69. In a cereal plant, the full endosperm is dominant over
independently of each other. independently of another pair. shrunken endosperm; and the yellow coloured
endosperm is dominant over the white endosperm. The
Options A B dihybrid (FfYy) was test crossed which produced four
(a) Chromosome Linked genes phenotypes in the following number :
(b) Linked genes Chromosome Full + yellow endosperm = 46
Full + white endosperm = 6
(c) Gene Chromosome
Shrunken + yellow endosperm = 8
(d) Chromosome Gene
Shrunken + white endosperm = 40
64. Which of the following is true for the location of few What is the distance between the genes F and Y ?
genes of Drosophila studied by T.H. Morgan : (a) 14 cM (b) 10 cM
(a) y, w and m genes are located on Y chromosome (c) 12 cM (d) 40 cM
(b) y+ , w+ and m+ genes are located on Y 70. According to Bateson and Punnett, which of the
chromosome following correctly represent crosses of coupling and
repulsion experiment ?
(c) y, y+ , w, w+ , m and m+ genes are located on
X-chromosome
Coupling Repulsion (a) The gene involved is on Y-chromosome

(b) The gene involved is autosomal but only in males
(a) BBll ´ bbLL BBll ´ bbll
(c) The gene involved is on X-chromosome
(b) BBll ´ bbLL BBLL ´ bbll
(d) Other male specific factors influence eye colour in
(c) BBLL ´ bbll BBll ´ bbLL
flies
(d) BBLL ´ bbll BBLL ´ bbll
76. Morgan’s choice of Drosophila has been proven to be
71. If two genes A and B are linked and show 20% useful even today for genetic experiments for following
recombination, the proportion of gametes prdouced by reason(s) :
F1 by a dihybrid ++/ab derived from a cross between (a) It has only four pairs of chromosomes
++/++ and ab/ab would be : (b) Easy and inexpensive maintenance with short
(a) ++ = 80%; ab = 20% generation time and large number of offsprings
(b) ++ = 40%; ab = 40%; +a = 10%; +b = 10% (c) Very large number of visible as well as
(c) ++ = 20%; ab = 20%; +a = 20%; +b = 20% biochemically mutant phenotypes
(d) ++ = 50%; ab = 50% (d) All of the above
72. If Mendel had studied 7 characters using a plant with 77. What does a frequency of recombination of 50%
12 chromosomes instead of 14, in what way would his indicate ?
interpretation have been different ? (a) The two genes are likely to be located on different
(a) He would have discovered blending chromosomes
(b) He would have discovered linkage (b) The genes are located on X-chromosomes
(c) He would not have discovered the principle of (c) Independent assortment is hindered
independent assortment (d) All of the offsprings have combination of traits that
(d) He would have mapped the chromosome match one of the two parents
73. The cross-over frequencies between the genes A and B; 78. Map units on linkage map cannot be relied upon to
A and C; B and C is 8%, 17% and 25% respectively. calculate physical distances on a chromosome for
What is the possible sequence of genes on the which of the following reasons ?
chromosome ? (a) The relationship between recombination
(a) frequency and map units is different in every
C B A individual
(b) (b) Physical distances between genes change during
A B C the course of cell cycle
(c) (c) Linkage map distances are identical between males
B A C and females
(d) (d) The frequency of crossing over varies along the
B A C length of the chromosome
79. The linkage group of a human sperm is :
74. In a linear chromosome, map distance (in cM) between
four gene loci are as follows : (a) 23 (b) 24
a – b = 10 cM (c) 46 (d) 22
b – c = 4 cM 80. Find the incorrect match w.r.t. linkage group :
a – d = 3 cM (a) Pisum sativum = 7
a – c = 6 cM (b) Zea mays = 12
The expected cross-over frequency between the genes c (c) Neurospora = 7
and d is : (d) Homo sapiens = 23
(a) 9% (b) 3% 81. Determine the sequence of genes along a chromosome
(c) 5% or 7% (d) 3% or 9 % based on the following recombination frequencies :
75. When Morgan crossed red-eyed F1 generation fruit flies A — B = 8%
to each other, the F2 generation included both red and A — C = 28%
white eyes. Remarkably, all the white-eyed flies were A — D = 25%
male. What was the explanation for this result ?
B — C = 20% (c) A = (i), B = (iii), C = (ii), D = (iv)

B — D = 33% (d) A = (iv), B = (iii), C = (ii), D = (i)
(a) ABCD (b) BADC 89. Determine the sex (A, B, C, D) of Drosophila according
(c) CBDA (d) DABC to the chromosomal constituent give below :
82. The cross-over frequencies between the genes A and B;
Chromosome
A and C; B and C is 8%; 17%; 25% respectively. What is Sex-Index
constitution
the possible sequence of genes on chromosome ?
A. AA + XO A
(a) ABC (b) BAC
B. AA + XXX B
(c) ACB (d)Either BAC or CAB
C. AAA + XXY C
Sex Determination D. AA + XY D
83. The initial clue about the genetic/chromosomal
mechanism of sex determination can be traced back to (a) A = Sterile male, B = Super female, C = Inter sex,
some of the experiments carried out in : D = Normal male
(a) Mammals (b) Birds (b) A = Normal male, B = Super female, C = Inter sex,
(c) Insects (d) Fishes D = Normal male
84. Males are more often affected by sex-linked traits than (c) A = Sterile male, B = Super male, C = Inter sex,
females because : D = Inter sex
(a) X-chromosomes in males generally have more (d) A = Inter sex, B = Super female, C = Super male,
mutations than X-chromosomes in females D = Normal male
(b) Males are hemizygous 90. Both husband and wife have normal vision though
(c) Mutations on the Y chromosome often worsens the their fathers were colourblind. The probability of
effects of X-linked mutations daughter becoming colourblind is :
(d) Male hormones like testosterone often alter the (a) 25% (b) 0%
effects of mutations on X-chromosomes (c) 50% (d) 75%
85. SRY-gene is located on :
Mutation
(a) Y-chromosome
91. If there are four different types of nitrogeneous bases
(b) X-chromosome
(A, T, G and C) then how many different types of
(c) Chromosome number-12
transitions and transversions are possibe ?
(d) Chromosome number-10
(a) Transition = 8, Transversion = 4
86. In ZW-ZZ type of sex determination in birds :
(b) Transition = 4, Transversion = 4
(a) Males are heterogametic
(c) Transition = 8, Transversion = 8
(b) Females are heterogametic
(d) Transition = 4, Transversion = 8
(c) Females are homogametic
92. Match the columns w.r.t. chromosomal aberration and
(d) Both males and females are homogametic disorders :
87. The haploid-diploid sex determination or arrhenotoky
is found in : Column-I Column-II
(a) Birds (b) Honey bee A. Inversion (i) Cri-du-chat syndrome
(c) Humans (d) Fishes B. Duplication (ii) Bar-eye trait in Drosophila
88. Match the columns w.r.t. sex-determination : C. Deletion (iii) Sterility in humans
Column-I Column-II D. Translocation (iv) Chronic myelogenous
leukaemia
A. XX-XY (i) Butterflies
(a) A = (iii), B = (ii), C = (iv), D = (i)
B. XX-XO (ii) Birds
(b) A = (iii), B = (ii), C = (i), D = (iv)
C. ZW-ZZ (iii) Grasshopper
D. ZO-ZZ (iv) Fruit fly
(c) A = (i), B = (ii), C = (iv), D = (iii)
(d) A = (ii), B = (iii), C = (i), D = (iv)
(a) A = (i), B = (iv), C = (iii), D = (ii)
(b) A = (ii), B = (iv), C = (iii), D = (i)
93. How many types of primary trisomics are possible in (c) Haemophilia
Datura stramonium ( 2n = 24) : (d) Hair pinna inheritance
(a) 13 (b) 22 99. Study the pedigree chart given below :
(c) 23 (d) 12
94. Albinism is known to be due to an autosomal recessive
mutation. The first child of a couple with normal skin
pigmentation was an albino. What is the probability of
their second child will also be an albino ?
(a) 50% (b) 25%
(c) 75% (d) 100% The trait under study is :
95. Match the columns : (a) Autosomal dominant trait
(b) Recessive X-linked trait
Column-I Column-II
(c) Dominant X-linked trait
A. Trisomy (i) (2n - 2) (d) Either (a) or (c)
B. Tetrasomy (ii) (2n + 1) 100. The diagram below shows the inheritance of
C. Double monosomy (iii) (2n + 2) haemophilia in a family. What will be the genotype of
D. Nullisomy (iv) (2n - 1 - 1) the individual marked M ?
(a) A = (ii), B = (iii), C = (i), D = (iv)

(b) A = (i), B = (ii), C = (iii), D = (iv)
(c) A = (ii), B = (iii), C = (iv), D = (i) M
(d) A = (iv), B = (ii), C = (i), D = (iii)
96. Haploid number is 10. What shall be the tetrasomic
number ? (a) M = XY (b) M = XX
(a) 22 (b) 18 (c) M = X Xh h
(d) M = X h X
(c) 20 (d) 19 101. Observe the pedigree chart given below. Find out the
Pedigree Analysis cause of trait, i. e., it is due to :
97. Match the columns w.r.t. pedigree symbols :
Column-I Column-II
A. Consanguineous mating (i)
B. Mating (ii)
C. Sex-unspecified (iii) (a) Incompletely dominant allele

D. Affected male (iv) (b) Dominant allele
(c) Either dominant or recessive allele
(a) A = (i), B = (ii), C = (iv), D = (iii)
(d) Recessive allele
(b) A = (iii), B = (ii), C = (i), D = (iv)
102. In the following human pedigree, the filled symbols
(c) A = (i), B = (iv), C = (ii), D = (iii)
represent the affected individuals. Identify the type of
(d) A = (iv), B = (ii), C = (iii), D = (i)
given pedigree.
98. The pedigree chart given below depicts :
(a) Cystic fibrosis

(b) Myotonic dystrophy
(a) X-linked dominant 106. Observe the pedigree chart given below :
(b) Autosomal recessive I M F
(c) Autosomal dominant
(d) X-linked recessive II H1 H2
103. Study the pedigree chart of certain family given below
and select the correct conclusion which can be drawn III
for the character :
In the above pedigree, the genotypes of father (F),
mother (M) in the Ist generation and husbands (H1 and
H 2 ) of daughters in the IInd generation are :
(a) F = AA, M = AA, H1 = Aa, H 2 = aa
(b) F = AA, M = aa, H1 = AA , H 2 = AA
(c) F = aa, M = Aa, H1 = Aa, H 2 = Aa
(a) The trait under study could be haemophilia (d) F = AA, M = aa, H1 = aa, H 2 = aa
(b) Inheritance of a condition like sickle cell anemia as 107. Study the pedigree chart given below :
an autosomal recessive trait
(c) Both the parent is homozygous dominant
(d) Only female parent is homozygous recessive
104. Fused ear lobe appears in the progeny due to an
autosomal recessive gene. Find out the possible
genotypes of individuals of the family members marked
as M and N. What does it show ?
(a) The pedigree chart is wrong as this is not possible
(b) Inheritance of recessive sex-linked disease like
haemophilia
M (c) Inheritance of a condition like phenyl ketonuria as
an autosomal recessive trait
N (d) Inheritance of a sex-linked inborn error of
(a) M = Aa, N = AA or Aa metabolism like phenylketonuria
(b) M = AA, N = AA or Aa Mendelian and Chromosomal Disorders
(c) M = aa, N = aa 108. If both the parents are carriers for cystic fibrosis (an
(d) M = Aa, N = aa autosomal disorder), what is the probability that the
105. Given below is a pedigree chart of a family with five child born will be affected by the disorder ?
children. It shows the inheritance of attached ear lobes (a) 2/4 (b) 1/4
as opposed to the free ones. Which of the following (c) 3/4 (d) 4/4
condition can be drawn ? 109. Match the columns :
Column-I Column-II
A. Mongolism (i) XYY
B. Jacob syndrome (ii) 21-trisomy
C. Patau’s syndrome (iii) 18-trisomy
(a) Parents are heterozygous D. Edward’s syndrome (iv) 13-trisomy
(b) Parents are homozygous recessive
(c) Parents are homozygous dominant (a) A = (i), B = (ii), C = (iii), D = (iv)
(d) All are incorrect (b) A = (iv), B = (iii), C = (ii), D = (i)
(c) A = (ii), B = (i), C = (iii), D = (iv)
(d) A = (ii), B = (i), C = (iv), D = (iii)
110. In which of the aneuploids of same species, there will 117. Which of the following is true ?
be same number of chromosomes ? (a) The mutant haemoglobin of sickle cell anaemic
(a) Double trisomic and tetrasomic individual undergo polymerisation under low
(b) Trisomic and Nullisomic oxygen tension causing sickling of RBC
(c) Monosomic and tetrasomic (b) Sickle cell anaemia occur due to the single base
(d) Double trisomic and monosomic substitution (GAG ® GUG) at the sixth codon of
111. Choose the odd one out w.r.t. a recessive disorder : b-globin gene
(a) Cystic fibrosis (c) Individuals heterozygous for sickle cell anaemia
(b) Haemophilia ( Hb S Hb A ) are resistant towards malaria
(c) Huntington’s disease (d) All of the above
(d) Phenyl ketonuria 118. What is true for an individual suffering from Down’s
112. Read the following statements : syndrome ?
(i) Mendelian disorders are mainly determined by (a) Short statured, small round head
alteration or mutation in the single gene (b) Furrowed tongue, palm crease
(ii) Chromosomal disorders are caused due to (c) Physical, psychomotor and mental development is
absence or excess or abnormal arrangement of retarded
one or more chromosomes (d) All of the above
(iii) Aneuploidy arise due to chromosomal 119. Read the following statements :
non-disjunction (i) 44 + XXY results in Klinefelter’s syndrome
(iv) Sickle cell anaemia is X-linked disorder (ii) Individuals with Klinefelter’s syndrome has
(v) Haemophilia is an autosomal recessive disorder overall masculine development, are sterile and
How many of the above statements are correct ? also show gynaecomastia
(a) Two (b) Three (iii) 44+ XO results in Turner’s syndrome
(c) Four (d) Five (iv) Individuals with Turner’s syndrome possess most
113. A couple heterozygous for sickle cell anemia expects a of the secondary sexual characters
baby. What are the chances of their, having a (v) Individuals with Turner’s syndrome are sterile
completely normal baby ? with rudimentary ovaries
(a) 25% (b) 75% Which of the above statements are correct ?
(c) 50% (d) 65% (a) (i), (ii), (iii) and (v)
114. A lady with Down’s syndrome marries a normal man. (b) (iii) only
What are the chances of having affected babies ? (c) (iv) and (v)
(a) 50% (b) 25% (d) (iii), (iv) and (v)
(c) 75% (d) 80% Miscellaneous
115. Identify the first and sixth amino acid of b -globin chain
120. How many unique gametes could be produced through
of haemoglobin of a person suffering from sickle cell
the independent assortment by an individual with the
anaemia.
genotype AaBBCcDdee?
(a) Glutamic acid, valine
(a) 8 (b) 4
(b) Glutamic acid, glutamic acid
(c) 2 (d) 16
(c) Valine, glutamic acid
121. The individual with the genotype AaBBCcDDEe can
(d) Valine, valine make many types of gametes. Which of the following is
116. The sixth amino acid in the b -globin chain of HbA the major reason ?
peptide is : (a) Crossing over during pachytene being the only reason
(a) Glutamic acid (b) Continuous mutations forming new alleles
(b) Valine (c) Different possible alignment of chromosomes
(c) Histidine (during metaphase-I)
(d) Proline (d) Segregation of paternal and maternal
chromosomes
122. Which of the following differentiates between the law (a) 16 (b) 12
independent assortment and segregation ? (c) 8 (d) 4
(a) The law of segregation requires describing two or 130. Match the columns :
more genes relative to one another
Column-I Column-II
(b) The law of segregation requires having two or
more generations to describe A. Dominant epistasis (i) 9:7
(c) The law of independent assortment is accounted by B. Complementary gene (ii) 15 : 1
observations of prophase-I C. Duplicate gene (iii) 12 : 3 : 1
(d) The law of independent assortment requires D. Recessive epistasis (iv) 9:3:4
describing two or more genes relative to one
another (a) A = (iii), B = (i), C = (ii), D = (iv)
123. A typical dihybrid and trihybrid test-cross ratio is (b) A = (i), B = (iv), C = (iii), D = (ii)
respectively : (c) A = (iii), B = (i), C = (iv), D = (ii)
(a) 1 : 1 and 1 : 1 : 1 : 1 (d) A = (i), B = (iv), C = (ii), D = (iii)
(b) 1 : 1 : 1 : 1 : 1 : 1 : 1 : 1 and 1 : 1 : 1 : 1 131. For bread wheat, 2n = 42. What is its basic number of
(c) 1 : 1 : 1 : 1 and 1 : 1 chromosome ?
(d) 1 : 1 : 1 : 1 and 1 : 1 : 1 : 1 : 1 : 1 : 1 : 1 (a) 7 (b) 21
124. Consider the cross : AabbCc ´ AAbbCC. What (c) 14 (d) 28
proportion of the progenies will have AAbbCC 132. For Triticale, 8 x = 56 . What will be the chromosome
genotype ? number in its haploid state, monosomic state and
(a) 1/4 (b) 1/8 monoploid state respectively ?
(c) 1/64 (d) 3/64 (a) 28, 7, 55 (b) 7, 28, 55
125. Which of the following is incorrect ? (c) 28, 55, 7 (d) 55, 7, 28
(a) Multiple allelism is evident in a population 133. The gene frequency for free ear lobed persons is 0.6.
(b) Constricted pod shape in pea is a recessive trait Calculate the number of heterozygous individuals out
of a population of 6000 ?
(c) The product of a single gene always produces one
phenotypic effect (a) 2880 (b) 2450
(d) Very closely placed genes on a chromosome have (c) 3000 (d) 2860
the chances of linkage 134. Allele frequency for a dominant allele is 0.2. What will
126. A man with genotype AABbCcDD can produce X be the number of dead organisms out of a population of
number of genetically different sperms and a woman 1000 individuals due to lethal homozygous recessive
with the genotype MmNnOoPP can produce Y number condition :
of genetically different eggs. Find out the values of X (a) 640 (b) 900
and Y : (c) 800 (d) 840
(a) X = 4, Y = 4 (b) X = 8, Y = 4 135. Mr. Raj is suffering from hypertrichosis and phenyl
(c) X = 8, Y = 8 (d) X = 4, Y = 8 ketonuria. The probability of his sperm having one
127. What are the chances of occurrence of three recessive autosomal allele and holandric gene is :
1 1
consecutive boy child to a couple : (a) (b)
8 16
(a) 1/8 (b) 2/8
1 1
(c) 2/6 (d) 3/8 (c) (d)
4 2
128. A couple has 4 daughters. What is the possibility of
136. At a particular locus, frequency of ‘A’ allele is 0.6 and
their having a girl child next time ?
that of ‘a’ is 0.4. What would be the frequency of
(a) 50% (b) 25%
heterozygotes in a random mating population at
(c) 75% (d) 65%
equilibrium ?
129. How many different types of gametes would be formed
(a) 0.16 (b) 0.48
in an individual who is heterozygous for four different
(c) 0.36 (d) 0.24
loci ?
Answers (Section-A)
1. (d) 2. (b) 3. (d) 4. (d) 5. (b) 6. (a) 7. (a) 8. (d) 9. (d) 10. (b)
11. (a) 12. (a) 13. (d) 14. (b) 15. (d) 16. (b) 17. (d) 18. (a) 19. (a) 20. (b)
21. (c) 22. (d) 23. (a) 24. (a) 25. (c) 26. (a) 27. (d) 28. (c) 29. (a) 30. (a)
31. (a) 32. (d) 33. (c) 34. (b) 35. (a) 36. (d) 37. (d) 38. (c) 39. (b) 40. (c)
41. (c) 42. (a) 43. (b) 44. (b) 45. (a) 46. (c) 47. (c) 48. (c) 49. (b) 50. (a)
51. (a) 52. (c) 53. (c) 54. (d) 55. (c) 56. (d) 57. (c) 58. (c) 59. (b) 60. (a)
61. (a) 62. (a) 63. (d) 64. (c) 65. (c) 66. (a) 67. (a) 68. (c) 69. (a) 70. (c)
71. (b) 72. (c) 73. (d) 74. (d) 75. (c) 76. (d) 77. (a) 78. (d) 79. (a) 80. (b)
81. (d) 82. (d) 83. (c) 84. (b) 85. (a) 86. (b) 87. (b) 88. (d) 89. (a) 90. (b)
91. (d) 92. (b) 93. (d) 94. (b) 95. (c) 96. (a) 97. (c) 98. (a) 99. (d) 100. (d)
101. (c) 102. (b) 103. (b) 104. (a) 105. (a) 106. (d) 107. (c) 108. (b) 109. (d) 110. (a)
111. (c) 112. (b) 113. (a) 114. (a) 115. (d) 116. (a) 117. (d) 118. (d) 119. (a) 120. (a)
121. (c) 122. (d) 123. (d) 124. (a) 125. (c) 126. (d) 127. (a) 128. (a) 129. (a) 130. (a)
131. (a) 132. (c) 133. (a) 134. (a) 135. (d) 136. (b)
Section-B : Questions from NCERT Exemplar
1. All genes located on the same chromosome : (c) It is a case of multiple allelism
(a) Form different groups depending upon their (d) The alleles of two genes are segregating
relative distance independently
(b) Form one linkage group 10. Which of the following will not result in variations
(c) Will not from any linkage groups among siblings ?
(d) From interactive groups that affect the phenotype (a) Independent assortment of genes
2. Conditions of a karyotype 2n ± 1 and 2n ± 2 are called : (b) Crossing over
(a) Aneuploidy (b) Polyploidy (c) Linkage
(c) Allopolyploidy (d) Monosomy (d) Mutation
3. Distance between the genes and percentage of 11. Mendel’s law of independent assortment holds good for
recombination shows : genes situated on the :
(a) A direct relationship (a) Non-homologous chromosomes
(b) An inverse relationship (b) Homologous chromosomes
(c) A parallel relationship (c) Extranuclear genetic element
(d) No relationship (d) Same chromosome
4. If a genetic disease is transferred from a phenotypically 12. Occasionally, a single gene may express more than one
normal but carrier female to only some of the male effect. The phenomenon is called :
progeny, the disease is : (a) Multiple allelism (b) Mosaicism
(a) Autosomal dominant (c) Pleiotropy (d) Polygeny
(b) Autosomal recessive 13. In a certain taxon of insects some have 17
(c) Sex-linked dominant chromosomes and the others have 18 chromosomes.
(d) Sex-linked recessive The 17 and 18 chromosome bearing organisms are :
5. In sickle cell anaemia glutamic acid is replaced by (a) Males and females, respectively
valine. Which one of the following triplets codes for (b) Females and males, respectively
valine? (c) All males
(a) GGG (b) AAG (d) All females
(c) GAA (d) GUG 14. The inheritance pattern of a gene over generations
6. Person having genotype I A I B would show the blood among human is studied by the pedigree analysis.
group as AB. This is because of : Character studied in the pedigree analysis is equivalent
(a) Pleiotropy (b) Co-dominance to :
(c) Segregation (d) Incomplete dominance (a) Quantitative trait (b) Mendelian trait
7. ZZ/ZW type of sex determination is seen in : (c) Polygenic trait (d) Maternal trait
(a) Platypus (b) Snails 15. It is said that Mendel proposed that the factor
(c) Cockroach (d) Peacock controlling any character is discrete and independent.
8. A cross between two tall plants resulted in offspring His proposition was based on the :
having few dwarf plants. What would be the genotypes (a) Results of F3 generation of a cross
of both the parents ? (b) Observations that the offspring of a cross made
(a) TT and Tt (b) Tt and Tt between the plants having two contrasting
(c) TT and TT (d) Tt and tt characters shows only one character without any
9. In a dihybrid cross, if you get 9 : 3 : 3 : 1 ratio it denotes blending
that : (c) Self pollination of F1 offsprings
(a) The allels of two genes are interacting with each (d) Cross pollination of F1 generation with recessive
other parent
(b) It is a multigenic inheritance
16. In the F2 generation of a Mendelian dihybrid cross the (a) Mother is homozygous for ‘A’ blood group and
number of phenotypes and genotypes are : father is heterozygous for ‘B’.
(a) Phenotypes-4; genotypes-16 (b) Mother is heterozygous for ‘A’ blood group and
(b) Phenotypes-9; genotypes-4 father is homozygous for ‘B’.
(c) Phenotypes-4; genotypes-8 (c) Both mother and father are heterozygous for ‘A’
(d) Phenotypes-4; genotypes-9 and ‘B’ blood group, respectively.
17. Mother and father of a person with ‘O’ blood group (d) Both mother and father are homozygous for ‘A’ and
have ‘A’ and ‘B’ blood group respectively. What would ‘B’ blood group, respectively.
be the genotype of both mother and father ?
Answers (Section-B)
1. (b) 2. (a) 3. (a) 4. (d) 5. (d) 6. (b) 7. (d) 8. (b) 9. (d) 10. (c)
11. (a) 12. (c) 13. (a) 14. (b) 15. (b) 16. (d) 17. (c)
Section-C : Assertion-Reason Type Questions

Instructions :
1. If both assertion and reason are true and the reason is the correct explanation of the assertion then mark (a).
2. If both assertion and reason are true but the reason is not the correct explanation of the assertion, then mark (b).
3. If assertion is true but reason is false, then mark (c).
4. If both assertion and reason are false statements then mark (d).
R: The gene for the above mutation is found on
1. A: Chromosomal aberrations are caused by a break in Y-chromosome.
the chromosome or its chromatids. 11. A: Mendel performed anthropophily for genetic
R: Duplication, deficiency, transversion and studies using true breeding or pure line pea plants.
translocations are the result of chromosomal R: A true breeding or pure line shows the stable trait
aberrations. inheritance and expression for several generations.
2. A: A person may be haemophilic, only if his mother is a 12. A: The monohybrid phenotypic test cross ratio is 1 : 1.
carrier. R: Monohybrid phenotypic test cross ratio of 1 : 1
R: The father cannot pass on a X-linked gene to his proves complete linkage between two genes.
sons. 13. A: The ABO blood-group system is human is an
3. A: The non-allelic genes for red hair and freckles are example of multiple allelism.
usually inherited together. R: The person having blood group AB is a case of
R: The genes for red hair and freckles are located on codominance.
same chromosome in close association. 14. A: In birds, females are heterogametic and males are
4. A: Persons suffering from haemophilia fail to produce homogametic.
blood clotting factor VIII. R: In birds, females have ZW sex chromosomes and
R: Prothrombin producing platelets in such persons males have ZZ sex chromosomes.
are found in very low concentration. 15. A: Mendel gave the concept of blending inheritance.
5. A: An organism with lethal mutation may not even R: Blending concept is valid for pea plants.
develop beyond the zygote stage. 16. A: Phenyl pyruvic acid is excreted through urine in
R: All types of gene mutations are lethal. phenyl ketonuric humans.
6. A: Haemophilia is a recessive sex-linked disease. R: The affected individual lacks phenyl hydroxylase
R: Haemophilia occurs due to muation of a structural enzyme.
gene on chromosome 15. 17. A: Test cross is a type of back cross.
7. A: A gamete may carry either of the traits but not both. R: In test cross the F1 -hybrid is crossed back with the
R: This is Mendel’s second law of independent homozygous recessive parent.
assortment. 18. A: A normal human male has no Barr body.
8. A: Antirrhinum is good example to understand R: A normal human male has only one X-chromosome.
incomplete dominance. 19. A: Independent assortment occurs when the genes
R: Heterozygotes show characteristics of both the under study are located on different
alleles. non-homologous chromosomes.
9. A: A geneticist crossed two plants, he got 50% tall and R: Unlinked genes show independent assortment.
50% dwarf progenies. 20. A: A person suffering from Klinefelter’s syndrome has
R: It follows Mendelian law as one of the parent plant an overall musculine development.
might be heterozygous. R: Individuals suffering from Klinefelters syndrome
10. A: Only a boy child could be born with a substitution of show gynaecomastia and are fertile.
glutamic acid by valine on 6th codon of beta-chain
of haemoglobin.
Answers (Section-C)
1. (b) 2. (a) 3. (a) 4. (c) 5. (c) 6. (c) 7. (c) 8. (c) 9. (a) 10. (d)
11. (a) 12. (c) 13. (b) 14. (a) 15. (d) 16. (a) 17. (a) 18. (a) 19. (a) 20. (c)
Section-D : Brainstormer
1. The height of a plant with the genotype AABB is 40 6. Consider the following cross w.r.t. polygenic
inches and that with the genotype aabb is 20 inches. inheritance :
What will be the height of a plant with the genotype AaBb ´ aabb
AaBb if it follows quantitative inheritance? What will be the phenotypic ratio as a result of this
(a) 30 inches (b) 15 inches cross?
(c) 60 inches (d) 40 inches (a) 1 : 2 : 1 (b) 1 : 1 : 1 : 1
2. A mulatto Indian (AaBbCc) marries a very light skinned (c) 2 : 2 : 2 : 2 (d) 3 : 2 : 5
American lady. What are the chances of their of having 7. In a trihybrid cross (AaBbCc ´ AaBbCc) what is the
a baby with fairly light skin? probability of offsprings to have a pure homozygous
32 16 genotype for the first character, heterozygous for the
(a) (b)
64 64 second character and pure homozygous for the third
24 8 character ?
(c) (d)
64 64 4 8
(a) (b)
3. How many phenotypes (P) and genotypes (G) are 64 64
possible if a character is controlled by five pairs of 3 12
(c) (d)
polygenes? 64 64
(a) P = 5, G = 10 (b) P = 11, G = 243 8. Select the wrong statement :
(c) P = 10, G = 250 (d) P = 15, G = 45 (a) True breeding plants are developed by self
4. Mendel could give the principle of independent pollination
assortment because : (b) The two alleles of a gene can be identical or non-
(a) The two genes studied by him were located on the identical for a recessive character
same chromosome (c) Three distinct alleles control ABO blood group in
(b) The two genes studied by him were located very humans
close to each other (d) An individual heterozygous for two gene loci
(c) One of the gene was located on chromosome produces four types gametes
number 1 and the other on chromosome number 7 9. In a typical Mendelian dihybrid cross, yellow : green
(d) He calculated the results with mathematical and round : wrinkled segregate in the ratio of :
precision (a) 3 : 1 (b) 9 : 7
5. How many types of gametes can be formed from the (c) 1 : 3 (d) 9 : 4
genotype AaBbCc when the last two genes are 10. The ratio of heterozygous genotypes and homozygous
completely linked? genotypes for the flower colour inheritance in Mirabilis
(a) 3 (b) 2 jalapa in the F2 generation will be :
(c) 6 (d) 4 (a) 2 : 1 (b) 1 : 2
(c) 1 : 1 (d) 3 : 1
Answers (Section-D)
1. (a) 2. (c) 3. (b) 4. (c) 5. (d) 6. (a) 7. (b) 8. (b) 9. (a) 10. (c)
Section-E : Latest Previous Years Questions
1. Which of the following is generally used for induced 12. The gene which masks the effect of another gene is
mutagenesis in crop plants ? called:
(a) Gamma rays (b) Alpha particles (a) Epistasis (b) Lethal gene
(c) X-rays (d) UV-rays (c) Multiple allele (d) Complementary gene
2. When tall and dwarf plants are crossed, from which 13. Grain colour in wheat is determined by three pairs of
cross 1 : 1 ratio is obtained ? polygene. Following the cross AABBCC (dark colour) ´
(a) Tt and tt (b) tt and tt aabbcc (light colour), in F2 generation what proportion
(c) Tt and Tt (d) TT and Tt of the progeny is likely to resemble either parent?
3. A gene that has multiple effect is called: (a) Half (b) Less than 5%
(a) Dominant gene (b) Mutant gene (c) One third (d) None of these
(c) Pleiotropic gene (d) Operator gene 14 Haploids are more suitable for mutation studies than
4. Kappa particles indicate: the diploids. This is because :
(a) Haploids are more abundant in nature than
(a) Nuclear inheritance
diploids
(b) Cytoplasmic inheritance
(b) All mutations whether dominant or recessive are
(c) Mutation
expressed in haploids
(d) Nucleo-cytoplasmic inheritance
5. Which traits of garden pea studied by Mendel was a (c) Haploids are reproductively more stable than
recessive feature? diploids
(a) Green seed colour (d) Mutagens penetrate in haploids more effectively
than diploids
(b) Green pod colour
15. What name has been assigned to the genus produced
(c) Round seed shape
by a cross between cabbage and radish?
(d) Axial flower position
(a) Secale (b) Bursa pastoris
6. Klinefelter’s syndrome is:
(c) Lysogenicophyll (d) Raphanobrassica
(a) XO (b) XXX
16. In seven pairs of contrasting characters in pea plant
(c) XXY (d) XXXY studied by Mendel, the number of flower based
7. A and B genes are linked. What shall be genotype of characters was:
progeny in a cross between AB/ab and ab/ab? (a) 1 (b) 2
(a) AAbb and aabb (b) AaBb and aabb (c) 3 (d) 4
(c) AABB and aabb (d) None of these 17. Point mutation may occur due to:
8. The map distance between the genes A and B is 3 units, (a) Alteration in DNA sequence
between B and C is 10 units and between C and A is 7
(b) Change in a single base pair of DNA
units. The order of the genes in a linkage map
(c) Deletion of a segment of DNA
constructed on the above data would perhaps be:
(d) Gain of a segment in DNA
(a) A, B, C (b) A, C, D
(c) B, C, A (d) B, A, C 18. A true breeding plant producing red flowers is crossed
with a pure plant producing white flowers. Allele for
9. Mutation cannot change:
red colour of flower is dominant. After selfing the
(a) RNA (b) Environment
plants of first filial generation, the proportion of plants
(c) Enzyme (d) DNA producing white flowers in the progeny would be:
10. A marriage between normal visioned man and
(a) 1/3 (b) 1/2
colourblind woman will produce which of the
(c) 3/4 (d) 1/4
following types of offspring?
19. Mating of an organism to a double recessive in order to
(a) Normal sons and carrier daughters
determine whether it is homozygous or heterozygous
(b) Colourblind sons and carrier daughters
for a character under consideration is called :
(c) Colourblind sons and 50% carrier daughters
(a) Reciprocal cross (b) Test cross
(d) 50% colourblind sons and 50% carrier daughters (c) Dihybrid cross (d) Back cross
11. A nutritionally wild type organism, which does not
20. Phenotypic ratio in plant Snapdragon (w.r.t flower
require any additional growth supplement is known as:
colour) in F2 is :
(a) Phenotype (b) Holotype
(a) 1 : 1 (b) 2 : 1
(c) Auxotroph (d) Prototroph
(c) 3 : 1 (d) 1 : 2 : 1
21. Inheritance of flower colour is an example of 29. Plant A is having chromosome no. 2n = 12 and B
incomplete dominance, which is seen in : having 2n = 16. Both are crossed to form allotetraploid
(a) Antirrhinum (b) Pisum C. What is the chromosome number of C?
(c) Solanum (d) Hibiscus (a) 32 (b) 14
22. Which of the following is not a Mendelian disorder? (c) 28 (d) 7
(a) Haemophilia (b) Cystic fibrosis 30. Heterozygotic tall plant (Tt) is crossed with
(c) Turner’s syndrome (d) Thalassaemia homozygous dwarf (tt) plant. Then what will be the
23. A pea plant having violet coloured flowers with percentage of dwarf plants in the next generation?
unknown genotype was crossed with a plant having (a) 0% (b) 50%
white coloured flowers. In the progeny 50% of the (c) 25% (d) 100%
flowers were violet and 50% were white. The genotypic 31. Bread wheat is :
constitution of the parent having violet coloured (a) Einkorn wheat
flowers was : (b) Emmer wheat
(a) Homozygous (b) Merozygous (c) Durum wheat
(c) Heterozygous (d) Hemizygous (d) Hexaploid
24. The major cause of evolution of genes and protein is:
32. How many types of genetically different gametes will
(a) Point mutation be produced by a heterozygous plant having the
(b) Chromosomal aberration genotype AABbCc ?
(c) Sexual reproduction (a) Two (b) Four
(d) Gene duplication and divergence (c) Six (d) Nine
25. Mendel’s principle of segregation means that the germ 33. Presence of recombinants is due to :
cells always receive : (a) Crossing over
(a) One pair of alleles (b) Linkage
(b) One quarter of the genes (c) Lack of independent assortment
(c) One of the paired alleles (d) All of the above
(d) Any pair of alleles 34. How many pairs of contrasting characters in pea pod
26. Mendel found that the reciprocal crosses yielded were chosen by Mendel ?
indentical results. From that he concluded that : (a) 3 (b) 5
(a) There is independent assortment of trait (c) 7 (d) 9
(b) Sex plays a role in deciding the dominance of a trait 35. If a cross between two individuals produces offsprings
(c) There is no dominance of any trait with 50% dominant character (A) and 50% recessive
(d) Sex has no influence on the dominance of traits character (a) the genotype of parents are:
27. Study the following lists: (a) Aa × Aa (b) Aa × aa
(c) AA × aa (d) AA × Aa
List I List II
36. When two unrelated individuals or lines are crossed,
A T.H. Morgan I Coined the term the performance of F1 hybrid is often superior to both
genetics its parents. This phenomenon is called:
B G.J. Mendel II Linkage (a) Metamorphosis (b) Heterosis
C Bateson III Checker board (c) Transformation (d) Splicing
D Reginald C. Punnett IV Laws of heredity 37. Mutations can be induced with:
V Mutations (a) Gamma radiations (b) Infra red radiations
(c) IAA (d) Ethylene
The correct match is: 38. Which of the following is not considered as a mutagen?
A B C D (a) UV radiation
(a) III IV I II (b) Nuclear reaction
(b) II IV I III (c) 2-amino purine
(c) I II V IV (d) Lower temperature
(d) IV III II I 39. Mendel was not able to get any linkage due to:
28. The genotypic ratio of F2 generation in monohybrid (a) Law of dominance
cross is: (b) Law of unit character
(a) 3 : 1 (b) 1 : 1 (c) Law of independent assortment
(c) 1 : 2 : 1 (d) 1 : 1 : 1 (d) None of the above
40. Colour-blindness occurs due to: 50. The loss of a chromosomal segment is due to:
(a) Dominant gene on X-chromosome (a) Polyploidy (b) Deletions
(b) Recessive gene on X-chromosome (c) Duplications (d) Inversions
(c) Recessive gene an autosomes 51. Polyploid derived from two different species is called:
(d) Dominant gene on autosomes (a) Autopolyploid
41. Haemophilia is related to which of the following? (b) Triploid
(a) Colour blindness (b) Polio (c) Allopolyploid
(c) Cataract (d) Tumour (d) Monoploid
42. If F1 generation has all tall progenies and ratio of F2
52. A normal visioned man whose father was colourblind
generation is 3 : 1 (tall and dwarf ), then it proves:
marries a woman whose father was also colourblind.
(a) Law of independent assortment They have their first child as a daughter. What are the
(b) Law of segregation chances that this child would be colourblind?
(c) Law of dominance
(a) 100%
(d) Incomplete dominance
(b) Zero percent
43. In Pisum sativum, the pod colour gene is present on
(c) 25%
which chromosome?
(a) Chromosome number 7 (d) 50%
(b) Chromosome number 4 53. F2 generation in a Mendelian cross showed that both
(c) Chromosome number 5 genotypic and phenotypic ratios are same as 1 : 2 : 1. It
represents a case of :
(d) Chromosome number 1
44. Absence of one sex-chromosome causes: (a) Co-dominance
(a) Turner’s syndrome (b) Dihybrid cross
(b) Klinefelter’s syndrome (c) Monohybrid cross with complete dominance
(c) Down’s syndrome (d) Monohybrid cross with incomplete dominance
(d) Tay-Sach’s syndrome 54. Which one of the following is a wrong statement
45. Mendel’s principle of segregation means that the germ regarding mutations?
cells always receive: (a) Deletion and insertion of base pairs cause
(a) One pair of alleles frameshift mutations
(b) One quarter of genes (b) Cancer cells commonly show chromosomal
(c) One of the paired alleles aberrations
(d) Any pair of alleles (c) UV and gamma rays are mutagens
46. Which of the following represents an amphidiploid ? (d) Change in a single base pair of DNA does not cause
(a) AABBDD (b) AB mutation
(c) AABB (d) ABC 55. A test cross is carried out to :
47. In Mendelian dihybrid cross when heterozygous round (a) Determine the genotype of a plant at F2
yellow are self crossed, round green offsprings are (b) Predict whether two traits are linked
represented by the genotype: (c) Assess the number of alleles of a gene
(a) RrYy, RrYY, RRYy (b) Rryy, RRyy, rryy (d) Determine whether two species or varieties will
(c) rrYy, rrYY (d) Rryy, RRyy breed successfully
48. Walter Sutton is famous for his contribution to: 56. The idea of mutations was brought forth by :
(a) Totipotency (a) Hugo de Vries, who worked on evening primrose
(b) Genetic engineering (b) Gregor Mendel, who worked on Pisum sativum
(c) Quantitative genetics (c) Hardy Weinberg, who worked on allele frequencies
(d) Chromosomal theory of inheritance in a population
49. Experimental verification of the chromosomal theory (d) Charles Darwin, who observed a wide variety of
of inheritance was given by: organisms during sea voyage
(a) HenKing 57. Represented below is the inheritance pattern of a
(b) Hugo de Vries certain type of traits in humans. Which one of the
following conditions could be an example of this
(c) Langdon Down
pattern?
(d) Thomas Hunt Morgan
(a) 0.7 (b) 0.4

(c) 0.5 (d) 0.6
Mother Father 65. A set of genes will be in a complete linkage when the
progeny phenotypes for parental (P) and recombinant
(R) types are :
Daughter Son
(a) P = 0%, R = 100%
(b) P = 50%, R = 50%
(a) Phenylketonuria (c) P < 50%, R > 50%
(b) Sickle-cell anaemia (d) P = 100%, R = 0%
(c) Haemophilia 66. Which one of the following information is essential to
(d) Thalassemia determine the genetic map distance between two genes
58. Which Mendelian idea is depicted by a cross in which
located on the same chromosome?
the F1 generation resembles both the parents?
(a) Law of dominance (a) Length of the particular chromosome
(b) Inheritance of one gene (b) Number of genes present in the particular
(c) Co-dominance chromosome
(d) Incomplete dominance
(c) Number of nucleotides in the particular
59. Which of the following statements is not true of two
genes that show 50% of recombination frequency? chromosome
(a) The genes are tightly linked (d) Percentage of crossing-over or recombinant
(b) The genes show independent assortment frequency between the two genes
(c) If the genes are present on the same chromosome, 67. Determine the sex of Drosophila with AAA+XX
they undergo more than one cross overs in every chromosomal constitution :
meiosis (a) Normal female (b) Intersex
(d) The genes may be on different chromosomes
(c) Super male (d) Super female
60. The incorrect statement with regard to haemophilia is :
(a) It is a recessive disease 68. Alleles are :
(b) It is a dominant disease (a) Heterozygous
(c) A single protein involved in the clotting of blood is (b) Different phenotypes
affected (c) True breeding homozygotes
(d) It is a sex-linked disease
(d) Different molecular forms of a gene
61. A human female with Turner’s syndrome :
(a) Is able to produce children with normal husband 69. The movement of a gene from one linkage group to
(b) Has 45 chromosomes with XO another is called :
(c) Has one additional X chromosome (a) Crossing-over (b) Inversion
(d) Exhibits male characters
(c) Translocation (d) Duplication
62. Fruit colour in squash is an example of :
(a) Inhibitory genes (b) Recessive epistasis 70. Multiple alleles are present :
(c) Dominant epistasis (d) Complementary genes (a) On sister chromatids
63. A man whose father was colourblind marries a woman (b) On different chromosomes
who had a colourblind mother and normal father. What
(c) At different loci on the same chromosome
percentage of male children of this couple will be
colourblind? (d) At the same locus of the chromosome
(a) 75% (b) 25% 71. A man with blood group A marries a woman with blood
(c) 0% (d) 50% group B. What are all the possible blood groups of their
64. In a population of 1000 individuals 360 belong to offsprings ?
genotype AA, 480 to Aa and remaining 160 to aa. Based
on this data, the frequency of allele A in the population (a) O only (b) A and B only
is : (c) A, B and AB only (d) A, B, AB and O
72. A population will not exist in Hardy-Weinberg (c) One that is able to breed on its own
equilibrium if : (d) Produced due cross-pollination among unrelated
plants
(a) The population is large
75. Pick out the correct statements :
(b) Individuals mate selectively
I. Haemophilia is a sex-linked recessive disease
(c) There are no mutation II. Down’s syndrome is due to aneuploidy
(d) There is no migration III. Phenyl ketonuria is an autosomal recessive gene
73. The mechanism that causes a gene to move from one disorder
linkage group to another is called : IV. Sickle cell anaemia is a X-linked recessive gene
(a) Translocation disorder
(b) Crossing over (a) (I) and (IV) are correct
(c) Inversion (b) (II) and (IV) are correct
(d) Duplication (c) (I), (III) and (IV) are correct
74. A true breeding plant is : (d) (I), (II) and (III) are correct
(a) Near homozygous and produces offspring of its
own kind
(b) Always homozygous recessive in its genetic
constitution
Answers (Section-E)
1. (a) 2. (a) 3. (c) 4. (b) 5. (a) 6. (c) 7. (b) 8. (d) 9. (b) 10. (b)
11. (d) 12. (a) 13. (b) 14. (b) 15. (d) 16. (b) 17. (b) 18. (d) 19. (b) 20. (d)
21. (a) 22. (c) 23. (c) 24. (a) 25. (c) 26. (d) 27. (b) 28. (c) 29. (c) 30. (b)
31. (d) 32. (b) 33. (a) 34. (a) 35. (b) 36. (b) 37. (a) 38. (d) 39. (c) 40. (b)
41. (a) 42. (b) 43. (c) 44. (a) 45. (c) 46. (c) 47. (d) 48. (d) 49. (d) 50. (b)
51. (c) 52. (b) 53. (d) 54. (d) 55. (a) 56. (a) 57. (c) 58. (c) 59. (a) 60. (b)
61. (b) 62. (c) 63. (d) 64. (d) 65. (d) 66. (d) 67. (b) 68. (d) 69. (c) 70. (d)
71. (d) 72. (b) 73. (a) 74. (a) 75. (d)
Hints
Section-A
4. (d) Options (a), (b) and (c) are correct. 35. (a)
10. (b) Pod character : Pod (flower) position, pod AB × + A
shape and pod colour.
Seed character : Seed colour and seed shape.
17. (d) In test cross, the organism to be tested is either IA IB IA IB
+ +
homozygous dominant or heterozygous.
IA I AI A IA IB IA IAIA I AI B
20. (b) OR
aa × Aa I AI A IA IB I AIO I BI O
IA IO
Thus, a child cannot have the O blood group.

A a 37. (d) Options (a), (b) and (c) are correct.
+
a Aa aa 39. (b) A haploid organism can have gene pair only in the
zygote state as seen in many algae. This zygote
\ Homozygous recessive phenotype (of the undergoes meiosis to form haploid spores which
1 germinate and develop into the haploid organism.
genotype aa) = or 50%
2 Thus, w.r.t. one gene pair,
22. (d) Option (a), (b) and (c) are correct. Zygote : Aa
Meiosis
Spores : A a
31. (a)
O × AB Phenotypic ratio = 1 : 1
42. (a)
RR × Rr
IO IO (Red) (Pink)
+
IA IA IO IA IO
R r
IB I BI O I BI O +
R RR Rr
Red Pink
Thus, O and AB blood groups are not possible.
1 : 1
33. (c)
B × +B 45. (a)
AB × AB
IB IO
+ IA IB
+
IB IBIB I BI O
IA IAIA IA IB
IO I BI O IOIO
IB IA IB I BI B
34. (b)
B × O 46. (c)
Xx Yy
IB IB IB IO Types of gametes : XY , Xy , xY and xy

+ +
IBIO I BI O IBIO IOIO 47. (c) Mendel performed the dihybrid cross to give the
IO IO
OR principle of independent assortment. He took two
IO IBIO I BI O IO IBIO IOIO characters—seed colour (present on chromosome
number-1) and seed shape (present on 54. (d) Following the same reason as in Q. 39, w.r.t. two
chromosome number-7). gene pairs,
50. (a) Zygote : AaBb
BbTt × BBtt
Meiosis
Spores : AB Ab aB ab
BT Bt bT bt
+
BBTt BBtt BbTt Bbtt Phenotypic ratio = 1 : 1 : 1 : 1
Black fur Black fur Black fur Black fur
Bt + + + + 55. (c)
short tail long tail short tail long tail
RY Ry rY ry
2 1 +
\ Black fur with long tailed mice = = RrYY RrYy rrYY rrYy
4 2 Round Round Wrinkled Wrinkled
1 1 1 rY + + + +
51. (a) AABB = ´ = Yellow Yellow Yellow Yellow
4 4 16 RrYy Rryy rrYy rryy
52. (c) ry Round Round Wrinkled Wrinkled
P: VVAA × vvaa + + + +
(Violet-axial) (White-terminal) Yellow Green Yellow Green
57. (c) The law of independent assortment can be
explained when the genes under study are not
F1 : VvAa
(Violet-axial) linked.
58. (c) The question in about the dihybrid test cross. So,
In the F2 generation offsprings with violet-
both the phenotypic and genotypic ratios will be
terminal flowers are of genotypes—VVaa and
1 : 1 : 1 : 1.
Vvaa.
59. (b) AABB + aabb + AAbb + aaBB
So, VVaa + Vvaa
1 1 1 1 1 1 1 1
æ1 ´ 1ö +æ 2´ 1ö = æç ´ ö÷ + æç ´ ö÷ + æç ´ ö÷ + æç ´ ö÷
ç ÷ ç ÷ è 4 4ø è 4 4ø è 4 4ø è 4 4ø
è 4 4ø è 4 4ø
1 1 1 1
1 2 = + + +
= + 16 16 16 16
16 16
4
3 =
= 16
16
3 63. (d) Since, in the last row of column-A ‘independent
\ ´ 1000 = 187.5 = 187 approximately pairs segregate independently of each other’ has
16
53. (c) Plants produced with the first dominant and been mentioned, it proves it is w.r.t. chromosome
second recessive trait. because a chromosome contains many genes.
AAbb + Aabb In the last row of column-B since, ‘one pair
æ1 ´ 1ö +æ 2´ 1ö segregates independently of another pair’ is
ç ÷ ç ÷ mentioned so, it is for gene.
è 4 4ø è 4 4ø
1 2 66. (a) AaBbCc
= + Since, the linkage between genes B and C is
16 16
3 incomplete so, maximum types of gametes
= Þ 2n = 23 = 8
16
3 67. (a) The distance between two the genes
\ ´ 512 = 96 Number of recombinants
16 = ´ 100
Total number of progenies
P : AABB × aabb 81. (d)

D A B C
F1 : AaBb
25 8 20
Test cross : AaBb × aabb
82. (d)
25
AB Ab aB ab 8 17
+
AaBb Aabb aaBb aabb
or or or or
AB/ab Ab/ab aB/ab ab/ab B A C
ab
or or or 84. (b) Males being hemizygous, can express even the
++/ab +b/ab a+/ab
X-linked recessive genes.
Parental Recombinant Recombinant Parental
type type type type
85. (a) Testis Determining Factor (TDF) also known as
sex-determining Y (SRY) protein is a DNA-binding
\ The distance between genes A and B protein encoded by SRY gene that is responsible
10 + 10 for the initiation of male sex determination in
= ´ 100
100 humans.
= 20% = 20 map unit 90. (b) Husband = XY, Wife = X c X
69. (a) Applying the same technique as of Q. 67, the
distance between the genes F and Y X Y
+
6+ 8
= ´ 100 Xc XcX XcY
100
= 14% = 14 cM X XX XY
71. (b) In the option (b) 20% recombination can be
observed. \ None of the daughters are colour blind.
+ a = 10% and +b = 10% 93. (d) Type sof primary trisomics = n
Since, 2n = 24 \ n = 12
72. (c) If 7 characters are taken w.r.t. 12 chromosomes 94. (b)
instead of 14, then chances of linkage would Aa × Aa
increase. Thereby, he would not have discovered
the principle of independent assortment.
A a
74. (d) +
10 AA Aa
A
(Normal) (Normal)
3 3 4
a Aa aa
(Normal) (Albinic)
a d c b 1
6
\aa = or 25%
4
OR 96. (a) n = 10
\ Tetrasomic number = 2n + 2
3 10
4 = 2 ´ 10 + 2
= 22
d a c b 98. (a) Cystic fibrosis is an autosomal (recessive)
6 disorder. Let ‘ a’ be the disease causing recessive
79. (a) Human sperm is a haploid cell. So, it linkage allele and ‘A’ be the normal dominant allele.
group = 23. Aa Aa
80. (b) For, Zea mays, 2n = 20
\ its linkage group =10 AA or Aa
aa aa Aa or Aa AA or Aa
AA or Aa aa AA or Aa
Myotonic dystrophy is an autosomal dominant 102. (b) Let ‘a’ be the recessive autosomal allele.
disorder, Haemophilia is a recessive X-linked Aa aa
disorder and Hairy pinna is a Y-linked trait.
99. (d) Let ‘A’ be the dominant allele for the trait and ‘a’ be AA or Aa
the normal recessive allele. aa AA or Aa Aa Aa aa
Aa Aa
AA
Aa or Aa AA AA aa Aa Aa
or or
aa Aa aa aa Aa aa Aa Aa
aa aa AA
or
Aa
aa aa aa aa Aa aa
103. (b) Sickle cell anaemia is due an autosomal recessive
Let X D be the dominant X-linked allele.
gene.
XDX XY Aa Aa
AA AA aa AA or Aa
XX XDY XY XX XDX XY AA AA or Aa or Aa
or or
Aa Aa aa AA AA
XX XX XX XX XDX XY or or
Aa Aa
Thus both the options (a) or (c) can be true. 106. (d) Both options (c) and (d) can be correct but option
100. (d) (d) matches the near probability.
107. (c) Phenyl ketonuria is an autosomal recessive trait.
Aa Aa
aa aa Aa Aa aa AA
The lady marked ‘M’ must be carrier then only in or
Aa
the last generation, affected male is possible. aa AA AA
101. (c) Let ‘A’ be the dominant allele for the trait and ‘a’ be or or
the normal recessive allele. Aa Aa
aa AA 108. (b) Cystic fibrosis is due to an autosomal recessive
gene (aa)
Aa × Aa
aa Aa Aa Aa Aa aa
aa Aa aa aa aa A a
+
OR A AA Aa
Let ‘a’ be the recessive allele for the trait and ‘A’ be
the normal dominant allele. a Aa aa
AA aa
1
\ aa =
4
AA or Aa AA or Aa
aa aa aa aa 110. (a) Double trisomic condition = 2n + 1 + 1
Tetrasomic condition = 2n + 2
AA or Aa
If the species is same then in both the above two
aa Aa Aa Aa
cases two extra chromosomes are present.
111. (c) Huntington’s disease is an autosomal dominant 126. (d) X = 2 n = 2 2 = 4

disease. Y = 2n = 23 = 8
112. (b) Statements (i), (ii) and (iii) are correct. 127. (a) The chances of three consecutive body child
113. (a) Sickle cell anaemia is an autosomal recessive 1 1 1 1
= ´ ´ =
disorder. 2 2 2 8
HbSHbA × HbSHbA For three consecutive girls also it is
1 1 1 1
= ´ ´ =
2 2 2 8
128. (a) Each time, the possibility of birth of a girl or a boy
HbS HbA 1
+ is or 50%.
HbS HbSHbS HbSHbA 2
S A A A
129. (a) 2 4 = 16
HbA Hb Hb Hb Hb 131. (a) Basic number means the monoploid number.
\ Completely normal baby Wheat is a hexaploid organism.
1 2n = 6 x = 42
(Hb A Hb A ) = or 25%
4 or 6 x = 42
114. (a) Lady = AAA + XX or x =7
Man = AA + XY 132. (c) For Triticale, 2n = 8 x = 56
52
A+X A+Y (i) Haploid number = = 28
+ 2
2A+XX 2A+XY
A+X Normal Normal (ii) Monosomic number = 56 - 1
child child = 55
3A+XX 3A+XY 56
(iii) Monoploid number = =7
AA+X Child with Child with 8
Down’s Down’s
syndrome syndrome 133. (a) Free ear lobe is due to the dominant allele. Fused
ear lobe is due to the recessive allele.
Chances of having affected babies (Down’s Gene frequency for free ear lobe = 0.6
syndrome) = 50% Gene frequency for fused ear lobe = 0.4
120. (a) In the genotype, AaBBCcDdee, the number of \ The number of heterozygous individuals
heterozygosity is 3. = 2 ´ 0.6 ´ 0.4 ´ 6000 = 2880
So, 2 3 = 8 134. (a) p = 0.2
121. (c) Formation of different types of gametes with q = 0.8
different types of genotypes is dependent on \ Number dead organisms = p 2 ´ 1000
crossing-over as well as alignment of
= ( 0.8) 2 ´ 1000
chromosomes during metaphase-I.
= 640
124. (a) Aa bb Cc × AA bb CC 135. (d) The genotype of primary spermatocyte of Mr.Raj
Thus, applying the short cut : is XYaa. Therefore, types of gametes = Xa and Ya.
1 1 1 1 Thus, 50% of his sperm will have one holandric
AAbbCC = ´ ´ = gene and one autosomal recessive gene.
2 1 2 4
Or, manually by fusing gametes : 136. (b) The frequency of heterozygous = 2pq
Given, p( A ) = 0.6
AbC Abc abC abc
+ q( a) = 0.4
AbC AAbbCC AAbbCc AabbCC AabbCc \ 2 pq = 2 ´ 0.6 ´ 0.4 = 0.48
1
\ AAbbCC =
4
Section-B
3. (a) Greater the distance between the genes, more frequent is the crossing over thereby, more is the percentage of
recombination.
13. (a) It is about the XX-XO type sex determination in insects like grasshopper where male heterogamete occurs. Thus,
insect with 17 chromosomes are males and that with 18 chromosomes are females.
16. (d) Number of phenotype = 2 n = 2 2 = 4
Number of genotype = 3 n = 3 2 = 9
17. (c)
I BI O × + I A I O
IB IO
+
IA IA IB IAI O
IO IBIO I OI O
Section-C
2. (a)
X Y
+
Xh XhX X hY
X XX XY
Thus, male is haemophilic if, his mother is carrier.

3. (a) When two or more genes (non-allele genes) are located very closely on the same chromosome, they show linkage.
4. (c) Factor VIII is produced in the liver sinusoidal cells and endothelial cells outside the liver throughout the body. This
protein circulates in the blood stream in an inactive form. In response to injury it becomes activated.
8. (c) Heterozygotes (F1 hybrid) shows phenotypic expression intermediate of the parental phenotypes.
9. (a)
Aa × aa
(Tall) (Dwarf)
A a
+
a Aa aa
Tall Dwarf
10. (d) Sickle cell anaemia is an autosomal disorder and not sex-linked.
Section-D
Maximum given height 40
1. (a) Height due to a dominant polygene (A or B) = = = 10 inches
Total number of polygenes 4
Minimum given height 20
Height due to a recessive polygene (a or b) = = = 5 inches
Total number of polygenes 4
\Height of the plant with the genotype AaBb= (10+5+10+5) inches
= 30 inches
2. (c)
P: AaBbCc × aabbcc
+
(Mulatto) (Very light skin colour)
F1 :
ABC ABc AbC Abc aBC aBc abC abc

+ AaBbcc aaBbCc
AabbCc
abc AaBbCc (Fairly light) (Fairly light) Aabbcc (Fairly light) aaBbcc aabbCc aabbcc
3 24
\ The chances of couple to have a fairly light skinned baby = or .
8 64
3. (b) Number of phenotypes = 2n + 1 = 2 ´ 5 + 1 = 11
Number of genotypes = 3 n = 3 5 = 243
5. (d)
Y
AaBbCc or, AaYy
y
Types of gametes = 2 n = 2 2 = 4
6. (a)
AB Ab aB ab
+
ab AaBb Aabb aaBb aabb
1 : 2 : 1
7. (b) aaBbcc + AABbCC + aaBbCC + AABbcc
2 2 2 2
= + + +
64 64 64 64
8
=
64
10.
P: RR × rr
(Red) (White)
Rr
F1 : (Pink)
Rr × Rr
F2 :
R r
+
RR Rr
R
(Red) (Pink)
r Rr rr
(Pink) (White)
Q Heterozygous genotype : Homozygous genotype
(Rr) (RR + rr)
2 : 2
1 : 1

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856 NCERT Biology Booster

1. Develops from fertilization Develops by independent

e. g ., AA ¾® Tall expression 22. Variation : It means deviation w.r.t. morphology,

AABB,ü Evidences against Blending Inheritance

F1 : Tt Phenotypic ratio Þ Tall : Dwarf

Note: yellow coloured and round shaped seeds. The study

characters are recovered as such in the F2 generation RY Ry rY ry

though one of these is not seen at the F1 stage.

It can be noted that w.r.t.

SOME IMPORTANT FORMULAE AND SHORTCUTS

Test cross results:

Phenotypic ratio = Tall : Dwarf

(ii) Dihybrid test cross :

Test cross result :

Round Round Wrinkled Wrinkled

POST MENDELIAN DISCOVERIES

P: RR × + rr These two alleles are not always identical, as in a

P: AAbb × aaBB AaBB AaBb aaBB aaBb

AaBb Aabb aaBb aabb

F2 : White : Yellow : Green

AB Ab aB ab 3. Recessive Epistasis and Supplementary gene

(9:3:4) : A gene is said to be recessive epistatic when in

5. Duplicate gene (15:1): Two dominant non-allelic

genes together or independently produce similar

phenotype and when all the genes are present in

Agouti : Black : Albino

In the above case, the effect of : aa > BB or Bb.

AaBb Aabb aaBb aabb

Polygenic or Quantitative Inheritance

AB Ab aB ab 1. The polygenic inheritance is controlled by two or more

genes in which genes involved in quantitative

Extreme red Dark red Intermediate red Light red White

F2 : (1) All six dominant polygenes = Very dark skin

Monogenic/ Qualitative inheritance Polygenic/Quantitative inheritance

CHROMOSOMAL THEORY OF INHERITANCE/PARALLELISM BETWEEN CHROMOSOMES

Parental Recombinant Gametes Parental Recombinant

Wild type White Wild type Miniature

Yellow, white Yellow White, miniature White

Y y (v) Frequency of recombination (cross-over value)

I. Chromosomal Basis of Sex Determination Meiosis Mitosis

Gynandromorph Sex linkage was discovered by Morgan, while working on

(i) Deletion : Removal of one or more bases 2. Chromosomal mutation (Chromosomal

Suppose A and B are different genomes. The two

3. Mutation due to numerical change in Note:

(iv) Evolution of wheat : (c) Tetrasomy : ( 2n + 2) = 11¢ 22¢ 22¢ 33¢

II. Chromosomal disorders

(iii) = Sex unspecified (iv) = Affected individuals, = Carrier female

(v) = Mating (vi) = Mating between relatives

(ix) 5 = Five unaffected offsprings (x) or = Monozygotic twin

(xi) or or = Dizygotic twin

Hardy-Weinberg Equilibrium Principle 3. This principle is applicable only when there is :

Section-A : Questions Based on NCERT Textbook

YR Yr yR yr (d) y, y + , w, w+ , m and m+ genes are autosomal

Coupling Repulsion (a) The gene involved is on Y-chromosome

B — C = 20% (c) A = (i), B = (iii), C = (ii), D = (iv)

(a) A = (ii), B = (iii), C = (i), D = (iv)

C. Sex-unspecified (iii) (a) Incompletely dominant allele

(a) Cystic fibrosis

Section-B : Questions from NCERT Exemplar

Section-C : Assertion-Reason Type Questions

Section-E : Latest Previous Years Questions

(a) 0.7 (b) 0.4

Thus, a child cannot have the O blood group.

IB IB IB IO Types of gametes : XY , Xy , xY and xy