Chapter 5 The work of Mendel and others who followed him gave us an

Principles of Inheritance idea of inheritance patterns. However the nature of those ‘factors’
and Variation which determine the phenotype was not very clear. As these
‘factors’ represent the genetic basis of inheritance, understanding
Chapter 6 the structure of geneti c material a n d the structural basis of
Molecular Basis of Inheritance genot y pe a n d phenot ype conversion b e c a m e the focus of
attention in biology for the next century. The entire b o dy of
Chapter 7 molecular biology was a consequent development with major
Evolution contributions from Watson, Crick, Nirenberg, Khorana, Kornbergs
(father and son), Benzer, Monod, Brenner, etc. A parallel problem
being tackled was the mechanism of evolution. Awareness in the
areas of molecular genetics, structural biology and bio informatics
have enri ched our understanding of t he molecular basis of
evolution. In this unit the structure and function of DNA and the
story and theory of evolution have been examined and explained.

2022-23
 James Dewey Watson was born in Chicago on 6 April 1928. In 1947, he
received B.Sc. d egree in Zoology. During these years his interest in
bird-watching ha d matured into a serious desire to learn genetics. This
b e c a m e possible when he received a Fellowship for graduate study in
Zoology at Indiana University, Bloomington, where he received his Ph.D.
degree in 1950 on a study of the effect of hard X-rays on bacteriophage
multiplication.
He met Crick and discovered their common interest in solving the
DNA structure. Their first serious effort, was unsatisfactory. Their second effort
based upon more experimental evidence an d better appreciation of
the nucleic acid literature, resulted, early in March 1953, in the proposal
of the complementary double-helical configuration.
Francis Harry Compton Crick was born on 8 June 1916, at Northampton,
JAMES WATSON
England. He studied physics at University College, London a n d obtained
FRANCIS C RICK a B.Sc. in 1937. He completed Ph.D. in 1954 on a thesis entitled “X-ray
Diffraction: Polypeptides and Proteins”.
A critical influence in Crick’s career was his friendship with J. D.
Watson, then a young man of 23, leading in 1953 to the proposal of
the double-helical structure for DNA a n d the replication scheme. Crick
was m a d e an F.R.S. in 1959.
The honours to Watson with Crick include: the John Collins Warren
Prize of the Massachusetts General Hospital, in 1959; the Lasker Award,
in 1960; the Research Corporation Prize, in 1962 a n d ab ov e all, the
Nobel Prize in 1962.

2022-23
 Father of genetics: Mendel
Term Modern genetics: Bateson
Father of Experimental genetics: T.H.Morgan ( worked on
Drosophillla, discovery of linkage & term linkage, term
recombination

CHAPTER 5
PRINCIPLES OF INHERITANCE AND VARIATION Johanson coined term GENE in 1909 for Mendelian
“Factor’ or “element”

CHARACHTER : any inheritable feature, like Have you ever wondered why a n elephant always gives birth only to a baby
Hight, skin color, hair color, eye color, flower elephant and not some other animal? O r why a mango seed forms only a
color. mango plant a n d not a n y other plant?
TRAIT : alternate forms of a particular
Given that they do, are the offspring identical to their parents? O r do
character, like tall/dwarf, light/dark skin
color, brown/black hair color. they show differences in some of their characteristics? Have you ever
DNA…CHROMATIN…CHROMOSOME wondered why siblings sometimes look so s imilar to each other? O r
DNA (Chemical basis of Inheritance, the sometimes even so different?
molecule which is transmitted to next Gen.) These a n d several related questions are dealt with,
–CHROMATIN (interphase state , when DNA scientifically, in a b r a n ch of biology known a s Genetics. This
is wrapped along histone but not condense)
subj ect (Genetics) deals with the inheritance, as well a s the va r ia t io n of
….CHROMOSOME (during division
condensed form of DNA). c h a r a c t e r s from p a r e n t s to o f f sp r in g . Inheritance is the process by
CHROMATID: 2 arms k/a sister chromatids which characters are passed on from parent to progeny; it is the basis of
of chromosome after S phase, having heredity.
carbon copy of DNA, means same Variation is the degree by which progeny differ from their parents.
information. H u m a n s knew from a s early a s 8 0 0 0 - 1 0 0 0 B . C . that one of the
GENE: Physical basis & UNIT of Inheritance,
c a u s e s of variation was hidden i n s e x u a l
carry information required for expression of
particular TRAIT in an organism) reproduction.
ALLELE/ALLELLOMORPH( term by Bateson) : They(humans) exploited the variations that were naturally present in the
alternate form of a gene, found on SAME wild populations of plants a n d animals to selectively naturally breed and
LOCUS in 2 homologous chromosome, may select for organisms that possessed desirable characters. For example,
carry same information or different as TT, Tt through a r t i f i c ia l selection a n d d o m e s t i c a ti o n from a n c e s t r a l
& control expression of a trait.
HOMOZYGOUS (term by Bateson) : AN
INDIVIDUAL which has identical allele of a
character on its homologous chromosome.
HETEROZYGOUS ( term by Bateson) : An PURE LINE/TRUE BREEDING (term by Johannsen): product of continuous self pollination, for 5-6
individual which contains 2 contrasting generation , to show stable trait inheritance for several generation.
factors of a character/alleles of a gene on
its homologous chromosome. MONOHYBRID/DIHYBRID/TRIHYBRID CROSS; cross for study of 1 pair/2 pairs/three pairs of
PHENOTYPE:. External appearance /physical contrasting trait of a character in an organism keeping rest all traits in similar state.(e.g, in pea
expression of a gene plant, crossing of either 1 /2/3 contrasting trait keeping rest 6/5/4 in similar forms
GENOTYPE: Genetic combination, TT, Tt. respectively.
DOMINANT: the allele which expresses in
both HOMO & HETERO condition. HEMIZYGOUS: the state when only ONE allele of a gene is present & responsible for expression
RECESSIVE: express in only homozygous gametes are hemizygous.
state/absence of dominant allele.
So, dominant or recessive can be best
judged in heterozygous state, that who is
able to express in presence of other.

2022-23
 BIOLOGY

chromosome no. w i l d c o w s , we h a v e w e l l - k n o w n I n d i a n br e ed s,
Seed shape: 7 e.g., S a h i w a l c o w s i n P u n j a b . We m u s t , however,
Seed colour: 1 recog nis e t h at t h o u g h o u r a n c e s t o r s k n e w a b o u t
Flower color:1 the i n h e r it a n c e of c h a r a c t e r s a n d v a r ia ti on , they
Pod shape:4
h a d v er y little idea about the scientific b a s i s of these
Pod color:5
phenomena.
(pod v get home
is green, n seed
opposite to it)
Flower 5.1 MENDEL’S LAWS OF INHERITANCE
position: 4
Stem height:4 It was during the mid-nineteenth century that headway
711,4544 was made in the understanding of inheritance .
All 7 character Gregor M ende l , conduc ted hybridisation
located on 4 experiments on garden peas for seven years (1856-
diff.chromoso 1863) and proposed the laws of inheritance in living
me (but this organisms. During Mendel’s in v e st ig at io ns into
was found by i n h e r i t a n c e patterns it was for the first time that
Bricks) Mendel Reason for
mendel’s STATISTICAL ANALYSIS and MATHEMATICAL LOGIC were
thought all 7
successPYQapplied to problems in biology. H i s experiments had A
were on 7
separate L ARGE S A M P L I N G SI Z E , w h i c h gave gr eat e r credibility
chromosome, to the data that he collected. Also, the c o n f i r m at i o n of
otherwise He h i s in f e re nce s f r om experiments on successive
would also generations of his test plants, proved that his results
have given pointed to general rules of inheritance rather than being
concept of
unsubstantiated ideas. Mendel investigated characters
linkage.
in the garden pea plant that were manifested a s two
opposing traits, e.g., tall or dwarf plants, yellow or
green seeds. T h i s allowed h i m to set u p a basic
framework of r u l e s g o v e r ni ng i n h e r i t an c e , w h i c h
w a s expanded on by later scientists to account for all
the diverse natural observations and the complexity
inherent in them.
Mend el condu cted such ARTIFICIAL
p o l l i n at io n/c ro s s pollination experiments
usin g several true-breeding pea lines. A true- breeding
line is one that, having undergone c o n tin uous self-
F i g u r e 5 . 1 Se v e n pair s of c ontr as ting tr aits i n pollination , sh ow s the stable trait inheritance a nd
pea plant studied b y Mendel expression for several generations.

70 Mendel selected 1 4 true-breeding pea plant varieties, a s pairs which were

s imilar except for one character with contrasting traits. Some of the contrasting
traits selected were smooth or wrinkled seeds, yellow or green seeds, inflated
(full) or constricted green or yellow pods a nd tall or dwarf plants (Figure 5.1,
Table 5.1).

2022-23
PRINCIPLES OF INHERITANCE AND VARIATION

T a bl e 5 . 1 : C o n t r a s t i n g T r a i t s S t u d i e d b y
Mendel i n Pea

S.No. Cha ra c t ers Co nt ra s ti ng T ra i t s

1. Stem height Tall/dwarf
2. Flower colour Violet/white
3. Flower position Axial/terminal
4. Pod shape Inflated/constricted
5. Pod colour Green/yellow
6. Seed shape Round/wrinkled
7. Seed colour Yellow/green

5.2 INHERITANCE OF ONE GENE

L e t u s t a k e th e e x a m p l e of one s u c h
h yb r id is ati on experiment carried out by
Mendel where he crossed tall a nd dwarf pea
plants to study the inheritance of one gene
(Figure 5.2). He collected the seeds produced
a s a result of this c ross a n d grew them to
generate plants of the first hybrid generation.
T h i s generation is also called the F i l i a l 1
pro gen y or the F 1 . Mendel observed that all
the F 1 progeny plants were tall, like one of
its parents; none were dwarf (Figure 5.3). He
made similar observations for the other pairs
of t rait s – he f o u nd that the F 1 a l w a y s
resembled either one of the parents, and that
the trait of the other parent was not seen in
them.
2. Mendel then self-pollinated the tall F 1
plants a n d to h i s surprise found that in the
Filial 2 generation some of the offspring were
‘dwarf ’; the character that was not seen in F i g u r e 5 . 2 Ste ps in making a c ross in pea
the F 1 generation was now expressed. The
proportion of plants that were dwarf were
1/4 t h of the F 2 plants while 3/4 t h of the F 2 plants were tall. The tall a n d
dwarf traits were identical to their parental type a nd did not show any
blending, that is all the offspring were either tall or dwarf, none were of in- 71
between height (Figure 5.3).
S i mi la r results were obtained with the other traits that he studied:
only one of the parental traits was expressed in the F 1 generation while at
the F 2 stage both the traits were expressed in the proportion 3:1. The
contrasting traits did not show a n y blending at either F 1 or F 2 stage.

2022-23
 BIOLOGY

Ba se d on these obs ervation s,

Mendel proposed that something
w a s being s t a b l y p a s s e d d o wn,
unchanged, from parent to offspring
through the g amet es, over
successive generations. He called
these things as ‘factors’. Now we call
them as genes. Genes, therefore, are
the u n i t s of i n h e r i t a n c e . T h e y
c o nt ai n the i n fo rm ati on that i s
required to express a particular trait
in a n organism. Genes which code
for a pair of contrasting traits are
k n o w n a s a l l e le s , i.e., they are
slightly different forms of the same
gene.
If we use alphabetical symbols
for each gene, then the capital letter
is used for the trait expressed at the
F 1 stage an d the small alphabet for
the other trait. For example, in case
of the character of height, T is used
for the Tall trait and t for the ‘dwarf’,
and T and t are alleles of each other.
Hence, in plants the pair of alleles
for height would be T T , T t or tt.
F i g u r e 5 . 3 D iag ram matic representation Mendel also proposed that in a true
of m onohybrid c ros s breeding, tall or dwarf pea variety
the allelic pair of genes for height are
identical or h om o z yg ou s , T T an d tt, respectively. T T an d tt are called
the genotype of the plant while the descriptive terms tall an d dwarf are
the phenotype. What then would be the phenotype of a plant that h a d a
genotype T t ?
A s Mendel found the phenotype of the F 1 heterozygote T t to be exactly
like the T T parent in appearance, he proposed that in a pair of dissimilar
factors, one dominates the other (as in the F 1 ) a n d hence is called the
d o m i n a n t factor while the other factor is recessive . I n this case T (for
tallness) is dominant over t (for dwarfness), that is recessive. He observed
identical behaviour for all the other characters/trait-pairs that he studied.
72
It is convenient (and logical) to use the capital a n d lower case of a n
alphabetical s y m b o l to remember t h i s concept of d o m i n a nc e a n d
recessiveness. (Do not use T for tall a n d d for dwarf because you will
find it difficult to remember whether T a n d d are alleles of the same
gene/character or not). Alleles can be similar as in the case of homozygotes
T T and t t or can be dissimilar a s in the case of the heterozygote T t . Since

2022-23
 PRINCIPLES OF INHERITANCE AND VARIATION

the T t plant is heterozygous for genes controlling

one character (height), it is a m o n ohybr id and the
cross between T T a n d t t is a m o n ohy br id c r o s s .
From the observation that the recessive parental
trait is expressed without any blending in the F 2
generation, we c a n infer that, when the tall a n d
dwarf plant produce gametes, by the process of
meiosis, the alleles of the parental pair separate or
segregate from each other a n d ONLY ONE ALLELE
IS TRANSMITTED TO A GAMETE. T h i s SEGREGATION
of alleles is a random proc ess a n d so there is a 5 0
per cent chance of a gamete containing either
allele, a s h a s been verified by the results of the
crossings. In this way the gametes of the tall T T
plants have the allele T a n d the gametes of the
dwarf t t plants have the allele t. D u r i n g
fertilisation the two alleles, T from one parent say,
through the pollen, and t from the other parent,
then through the egg, are united to produce
zygotes that have one T allele a n d one t allele. I n
other words the hybrids have T t . Since these
h y b r i d s c o n t a i n alleles w h i c h e x p r e s s
contrasting traits, the plants are heterozygous. The
production of gametes by the parents, the formation
of the zygotes, the F 1 a n d F 2 p l a n t s c a n be
understood from a diagram called Punnett Square
as shown in Figure 5.4. It was developed by a British
geneticist, Reginald C . Punnett. It is a graphical
representation to calculate the probability of all
possible genotypes of offspring in a genetic cross.
The possible gametes are written on two sides,
u s u a l l y the top row a n d left columns. All possible
combinations are represented in boxes below in the
squares, whic h generates a square output form.

The Punnett Square shows the parental tall T T F i g u r e 5 . 4 A P u n n e t t s q u a r e u s e d to

(male) a n d dwarf t t (female) plants, the gametes unde rstand a typical monohybrid
c r o s s c o n d u c t e d by M e n d e l
produced by them and, the F 1 T t progeny. The F 1 between true-breeding tall plants
p l a n t s of genotype T t are self-pollinated. T h e and true-breeding dwarf plants
symbols & a n d % are used to denote the female
73
(eggs) an d male (pollen) of the F 1 generation, respectively. The F 1 plant of the
genotype T t when self-pollinated, produces gametes of the genotype T a n d t in
equal proportion. When fertilisation takes place, the pollen grains of genotype T
have a 5 0 per cent chance to pollinate eggs of the genotype T , a s well a s of
genotype t. Also pollen grains of genotype t have a 5 0 per cent chance of
pollinating eggs of genotype T , a s well a s of

2022-23
 BIOLOGY

genotype t. A s a result of random fertilisation, the resultant zygotes c an

Type of gametes formed by be of the genotypes T T , T t or tt.
diploid individual= 2 n
here n= no. of F r o m the Punnett square it is easily seen that 1 / 4 t h of the random
heterozygotes/hybrid fertilisations lead to T T , 1 / 2 lead to T t a n d 1 / 4 t h to tt. T h o u g h the F 1
have a genotype of T t , but the phenotypic character seen is ‘tall’. At F 2 ,
Forked line method to form 3/4 t h of the plants are tall, where some of them are T T while others are
different type of gametes from a T t . Externally it is not possible to distinguish between the plants with
given genotype the genotypes T T a nd T t . Hence, within the genopytic pair T t only one
Genotype Aa
character ‘T ’ tall is expressed. Hence the character T or ‘tall’ i s said to
dominate over the other allele t or ‘dwarf’ character. It is t hu s due to this
dominance of one character over the other that all the F 1 are tall (though
the genotype is T t ) a n d in the F 2 3 / 4 t h of the plants are tall (though
genotypically 1 / 2 are T t and only 1/4 t h are TT). This leads to a phenotypic
ratio of 3 / 4 t h tall : ( 1 / 4 T T + 1 / 2 T t ) a n d 1 / 4 t h tt, i.e., a 3:1 ratio, but a
Main reason for adopting Pea,
genotypic ratio of 1:2:1.
garden pea/edible pea/Pisum
sativum. The 1 / 4 : 1 / 2 : 1 / 4 ratio of T T : T t : t t is mathematically condensable
Initially Mendel took 34 verities to the form of the binomial expression (ax +by) 2 , that h a s the gametes
of pea, then 22 & finally worked bearing genes T or t in equal frequency of ½ . The expression is expanded
with 7 pair of verities. a s given below :
Term pure line coined by
Johansen 1900 ( 1 / 2 T + 1 / 2 t) 2 = ( 1 / 2 T + 1/2t) X ( 1 / 2 T + 1/2t) = 1 / 4 T T + 1 / 2 T t + 1 / 4 tt
1. It has many distinct clear
contrasting traits Mendel self-pollinated the F 2 plants a n d found that dwarf F 2 plants
2. Produce large no. of continued to generate dwarf plants in F 3 and F 4 generations. He concluded
seeds & completes cycle that the genotype of the dwarfs was homozygous – tt. What do you th ink
in one season he would have got h a d he self-pollinated a tall F 2 plant ? to check
3. Flowers shows self
wether t is lost or still there.
pollination, so are true
breeders TEST CROSS
4. Its easy to cross-pollinate. Fro m the preceeding paragraphs it is clear that though the genotypic
ratios c an be calculated using mathematical probability, by simply looking
Law of dominance/1st law of inheritance : at the phenotype of a dominant trait, it is not possible to know the
genotypic composition. That is, for example, whether a tall plant from F 1
Every character is controlled by discrete
or F 2 h as T T or T t composition, cannot be predicted. Therefore, to determine
unit called factors, which occur in pairs.in
dissimilar pair of factors, only one is able to the GENOTYPE OF A TALL PLANT AT F 2 , Mendel crossed the tall plant ( TT
express its effect that called as dominant. /Tt) from F 2 with a dwarf plant . T h i s he called a test cross . In a typical
The other one which doesn't show its effect
test cross a n organism (pea plants here) showing a dominant
is called recessive factor.
This law is not universally applicable phenotype (and whose genotype is to be determined) is crossed with the
recessive parent instead of self-c rossing. The progenies of s u c h a cross
2nd law/ Law of 74 c an easily be analysed to predict the genotype of the test organism.
segregation/universal law of
inheritance/ law of purity of gamete
Figure 5.5 shows the results of typical test cr oss where violet colour
During gamete formation , factors of flower (W) is dominant over white colour flower (w).
a character segregate from each
other, so that gamete carries only Using Punnett square, try to find out the nature of offspring of a test cross.
one factor of a character. This
What ratio did yo u get? If WW with ww, so all violet (Ww) / 4:0 . If Ww with
ensures the purity of gamete.
Two factors of a character found in ww than 1: 1
an individual do not get mixed up or
blend and both traits are recovered Using the genotypes of this cross, can you give a general definition for
as such in F2 generation
a test cro ss? 2022-23
PRINCIPLES OF INHERITANCE AND VARIATION

F i g u r e 5 . 5 D iag rammatic representation of a test c ros s

B a se d on h i s observations on monohybrid crosses Mendel proposed two general rules to

consolidate h i s understanding of inheritance in monohybrid crosses. Today these rules are called
the P r i n c ip l e s or La w s of In h er i tan ce : the First La w or L a w of D o m i n a n c e an d the Second Law
or L a w of Segregation .

5 . 2 . 1 L a w of D o m i n a n c e

(i) Characters are controlled by discrete units called factors .

(ii) Factors occur in pairs.
(iii) In a dissimilar pair of factors one member of the pair dominates
(dominant) the other (recessive).
The law of dominance is us ed to explain the expression of only one of the parental
characters in a monohybrid cross in the F 1 and the expression OF BOTH IN THE F 2 . It also
explains the proportion of 3:1 obtained at the F 2 .

5 . 2 . 2 L a w of S eg rega tio n /la w o f p u r ity o f ga m etes/u n iv ersa l la w

T h i s law is based on the fact that the alleles do not show a n y blending a n d that
both the characters are recovered a s s u c h in the F 2 generation though one of these 75
is not seen at the F 1 stage.
Though the parents contain two alleles during gamete formation, the factors or alleles of
a pair segregate from each other s u c h that a gamete receives only one of the two
factors. Of course, a homozygous parent produc es all gametes that are similar
while a heterozygous one produces two k i n d s of gametes each having one allele
with equal proportion.

2022-23
1. How many type of gametes can be produced by a diploid organism, if it is heterozygous for one locus? Also mention genotype
of gametes.
Types of gamete= 2n
Genotype of organism is Aa
N=1(no. of heterozygote)
2o1= 2, so two type of gametes,( A, a)

2. How many types of gametes are possible from a diploid organism having genotype AaBBCC.

3. In a cross between yellow and a green seeded pea plants, all F1 members are yellow. But F2 generation raised by crossing two
such F1 consists of approximately 75% yellow and 25% green seeded plants.
a) What will be the offspring be like if two F2 greens are mated?
b) What will be the genotypic ratio in the population of yellow seeded plants in F2 generation.

2. In garden pea the flowers may be axial (A) or terminal (a) in position. What proportion of the offspring in the flowering crosses
would be expected to be axial?
i) Aa x Aa
ii) AA X Aa
hint: axial ¾=75%, b) 4/4 = 100%
 BIOLOGY

E xc e p t io n s t o M e n d e lia n Prin c ip le s

5 . 2. 2. 1 Incomplete D o m in a n c e

When experiments on peas were repeated (after Mendelism)

using other traits in other plants, it was found that sometimes
the F 1 had a phenotype that did not resemble either of the two
parents and was in between the two. The inheritance of
flower colour in the dog flower (snapdragon or Antirrhinum
sp.) is a good example to understand incomplete dominance.
In a cross between true-breeding red-flowered (RR) and true-
breeding white-flowered plants (rr), the F 1 (Rr) was pink
(Figure 5.6). When the F 1 was self-pollinated the F 2 resulted
in the following ratio 1 (RR) Red : 2 (Rr) Pink : 1 (rr) White. Here
the genotype ratios were exactly a s we would expect in any
mendelian monohybrid cross, but the phenotype ratios had
changed from the 3:1 dominant : recessive ratio. What
happened was that R was not completely dominant over r
and this made it possible to distinguish R r as pink from R R
(red) and rr (white) .
E x p l a n a t i o n of th e c on c e p t of d o m in a n ce : What
exactly is dominance? Why are some alleles dominant and
some recessive? To tackle these questions, we must
understand what a gene does. Every gene, a s you know by
now, contains the information to express a particular trait.
I n a diploid organism, there are two copies of each gene,
i.e., as a pair of alleles. Now, these two alleles need not always
be identical, as in a heterozygote. One of them may be
different due to some changes that it h a s undergone (about
which you will read further on, and in the next chapter) which
modifies the information that particular allele contains.
Let’s take a n example of a gene that contains the
information for producing a n enzyme. Now there are two
copies of this gene, the two allelic forms. Let u s assume (as
is more common) that the normal allele produces the
normal enzyme t h at i s needed for the t ra n sf o r m at i on
Figure 5.6 Results of monohybrid cross in
the plant Snapdr agon, where of a substrate S .
one alle le i s i n c o m p l e t e l y
dominant over the other allele

76 Theoretically, the modified allele could be responsible for production of

In heterozygous condition(Rr),
phenotypic effect of one is more (i) The normal/less efficient enzyme, or
pronounced than that of other (ii) a non-functional enzyme, or
then mixing of both colors ( red &
white) results in development of (iii) no enzyme at all
pink color)

2022-23
1. When a cross is made between pink flowered and red flowered snapdragon
plants, what proportion of phenotype in the offspring could be expected to be
i) Red ii) white
RR X Rr

Hint: red (RR)= 2/4=50%, White (rr)= 0%

2. When a cross is made b/w white and pink flowered Antirrhinum plants, what
phenotype ratio is obtained in the resulting generation?
PRINCIPLES OF INHERITANCE AND VARIATION

In the first case, the modified allele is equivalent to the unmodified allele, i.e., it
will produce the same phenotype/trait, i.e., result in the transformation of substrate
S . S u c h equivalent allele pairs are very common. But, if the allele produces a
non-functional enzyme or no enzyme, the phenotype may be effected. The
phenotype/trait will only be dependent on the functioning of the unmodified allele.
The UNMODIFIED (FUNCTIONING) allele, which represents the ORIGINAL PHENOTYPE
is the DOMINANT ALLELE and the modified allele is generally the recessive allele.
Hence, in the example above the recessive trait is seen due to non-functional
enzyme or because no enzyme is produced.

5.2.2.2 Co-dominance
Till now we were discu ssi ng crosses where the F 1 resembled either of the two
parents (dominance) or was in-between (incomplete dominance). But, in the case
of co-dominance the F 1 generation resembles both parents. A good example is
different types of red blood cells that determine A B O blood grouping in
h u m a n beings. A B O blood groups are controlled by the gene I. The plasma
membrane of the red blood cells has sugar polymers that PROTRUDE from its
surface a nd the k i nd of s uga r is controlled by the gene. The gene (I) h as three
alleles I A , I B and i. The alleles I A and I B produce a slightly different form of the
s u ga r while allele i DOES NOT produce any sugar. Because h u m a n s are diploid
organisms, each person possesses any two of the three I gene alleles. I A and I B
are completely dominant over i, in other words when I A a nd i are present only
I A expresses (because i does not produce any sugar), an d when I B and i are
present I B expresses. B u t when I A and I B are present together they both express
their own types of sugars: this is because of co-dominance . Hence red blood
cells have both A and B types of sugars. Since there are three different alleles,
there are six different combinations of these three alleles that are possible, and
therefore, a total of six different genotypes of the h u m a n A B O blood types (Table
5.2). H o w m a n y phenotypes are possible?
T a bl e 5. 2: T a bl e S ho w i ng t he Ge ne t i c Ba si s of Bl oo d Gro ups in
H u m a n Po pul a t i o n

Al l el e f ro m Al l el e f ro m Geno t ype of Bl o o d
Pa rent 1 Pa rent 2 offspring t ypes of
offspring
IA I A I AI A
A
IA I B I AI B
AB
IA i I Ai A 77
IB I A I AI B
AB
IB I B IBI B
B
IB i I B
i B
i i ii O

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 BIOLOGY
Multiple allelism: presence of more than two alleles for a gene.

D o you realise that the example of A B O blood grouping also provides a good
example of mul t ipl e alleles ? Here you ca n see that there are more than two,
PLEIOTROPY: i.e., three alleles, governing the same character. Since in a n individual only two
The basis of Pleiotropy is the alleles can be present, multiple alleles can be found only when population
interrelationship between the studies are made.
metabolic Pathways that may Occasionally, a single gene PRODUCT may produce more than one effect.
contribute towards different For example, starch synthesis in pea seeds is controlled by one gene. It h a s
phenotypes. two alleles (B a n d b). S t a r c h i s synthes is ed effectively by B B homozygotes
and therefore, large starch grains are produced. In contrast, bb homozygotes
1. Phenylketonuria: mutation of a gene
have lesser efficiency in starch synthesis a nd produce smaller starch grains.
that codes enzyme Phenylalanine
After maturation of the seeds, B B seeds are round an d the bb seeds are
hydroxylase, results in many
phenotypic expression wrinkled. Heterozygotes produce round seeds, a n d so B seems to be the
• Mental retardation dominant allele. B ut , the starch grains produced are of intermediate size in Bb
• Reduction in hair and skin seeds. S o if starch grain size is considered a s the phenotype, then from t hi s
pigmentation angle, the alleles show incomplete dominance.
Therefore, dominance is not a n autonomous feature of a gene. The
2. Drosophila : White eye mutation product that it h a s information for. It depends a s m u c h on the gene
leads to depigmentation in many other product an d the production of a particular phenotype from this product a s it
parts of the body. does on the particular phenotype that we choose to examine, in case more than
one phenotype is influenced by the same gene.
3. Starch synthesis: dominance
is not an autonomous feature of 5 . 3 I N H E R I T A N C E O F T W O G E N E S
a gene or the product. It
depends upon that gene Mendel also worked with a n d crossed pea plants that differed in two
product and particular characters, a s is seen in the cross between a pea plant that ha s seeds with yellow
phenotype we chose to examine colour a n d round shape a n d one that h a d seeds of green colour and wrinkled
when a gene produces more shape (Figure5.7). Mendel found that the seeds resulting from the crossing of
than one phenotype. the parents, had yellow coloured an d round shaped seeds. Here can you tell
which of the characters in the pairs yellow/ green colour and round/wrinkled
shape w a s dominant?
T h u s , yellow c olour was dominant over green a n d r o u n d shape
dominant over wrinkled. These results were identical to those that he got
when he made separate monohybrid crosses between yellow a n d green
seeded plants a n d between round a n d wrinkled seeded plants.
work out and conclude?
Let u s use the genotypic symbols Y for dominant yellow seed colour
and y for recessive green seed colour, R for round shaped seeds and r for
wrinkled seed shape. The genotype of the parents c a n then be written a s
R R Y Y an d r ry y. The cross between the two plants c a n be written down
a s in Figure 5.7 showing the genotypes of the parent plants. The gametes
78 R Y a n d r y unite on fertilisation to produce the F 1 hybrid R r Y y . When

Mendel self hybridised the F 1 plants he found that 3 / 4 t h of F 2plants had

yellow seeds and 1/4 t h h ad green. The yellow and green colour segregated
in a 3:1 ratio. Ro u n d a nd wrinkled seed shape also segregated in a 3:1
ratio; j ust like in a monohybrid c ross.????????

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PRINCIPLES OF INHERITANCE AND VARIATION

4 TYPES
GAMETES

79

F i g u r e 5 . 7 R e s u lts of a dihybrid c r os s where the two parents differed in two pairs of

contrasting traits: seed colour and seed s hape

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 BIOLOGY

5 . 3 . 1 L a w of In d ep en d en t A s s o r t m e n t
I n the di hy b r id c r o s s (Fi gur e 5. 7), the phenotype s r o u n d , yellow;
wrinkled, yellow; round, green a n d wrinkled, green appeared in the
ratio 9:3:3:1. S u c h a ratio was observed for several p a i r s of characte rs
that Mendel studied.
The ratio of 9:3:3:1 can be derived a s a combination series of 3 yellow:
1 green, with 3 r o u n d : 1 wrinkled. T h i s derivation c a n be written
a s follows:
(3 R o u n d : 1 Wrinkled) (3 Yellow : 1 Green) = 9 Ro un d, Yellow : 3
Wrinkled, Yellow: 3 R o u n d , Green : 1 Wrinkled, Green
Based upon s u c h observations on dihybrid crosses (crosses between
plants differing in two traits) Mendel proposed a second set of generalisations
that we call Mendel’s L a w of Independent Assortment. The law states that
‘when two pairs of traits are combined in a hybrid, segregation of one pair
of characters is independent of the other pair of characters’.
T h e P u n n e tt s q u a r e c a n be effectively u s e d to u n d e r s t a n d the
independent segregation of the two p ai rs of genes d u r i n g meiosis a n d
the p rod uctio n of eggs a n d pollen in the F 1 R r Y y plant. C o n s ider the
segregation of one pair of genes R a n d r . Fifty per cent of the gametes
have the gene R a n d the other 5 0 per c ent have r. Now besides each
gamete h av i ng either R or r , it s h o u l d also have the allele Y or y . T h e
important thing to remember here i s that segregation of 5 0 per cent R
a n d 5 0 per cent r i s independent from the segregation of 5 0 per cent
Y a n d 5 0 per c ent y. Therefore, 5 0 per cent of the r bearing gametes
h a s Y a n d the other 5 0 per cent h a s y. S i m i l a r ly , 5 0 per cent of the R
bearing gametes h a s Y a n d the other 5 0 per cent h a s y . T h u s there are
Assertion/ Reason four genotypes of gametes (four types of pollen a n d four types of
eggs). T h e four types are R Y , R y , r Y a n d r y each with a frequency of
2 5 per cent or 1/4 t h of the total gametes produced. When y ou write
down the four types of eggs a n d pollen on the two sides of a Punnett
squa re it i s very easy to derive the composition of the zygotes that
give rise to the F 2 p l an t s (Figu re 5.7). A lthough there are 1 6
s q ua r e s / Z Y G O T E h o w m a n y different type s of genotypes a n d
pheno types are formed? Note t h e m down i n the format given.
C a n you, us in g the Punnett square data work out the genotypic ratio
at the F 2 stage a n d fill in the format given? I s the genotypic ratio
also 9:3:3:1? PU RE D O MINA NT only 1, Y Y RR, pur e r e c e ssive ony 1 y y r r

S.No . G e n o t y p es found i n F 2 T h e i r e x p e c t ed P h e n o t y p e s
80
1 : 2 : 2 : 4 : 1 : 2 : 1 : 2 : 1
YYRR: YYRr: YyRR: YyRr: Yyrr: Yyrr : yyRR :
yyRrr : yyrr

5 . 3 . 2 C h r o m o s o m a l T h e o r y of I n h e r i t a n c e
Mendel p u b l i s h e d h i s w o r k on i n h e r i t a n ce of c h a r a c t e r s i n 1 8 6 5
b u t for several r e a s2022-23
o n s , it r e m a i n e d U N R E C O G NI SE D till 1 9 0 0 , a f t e r
16yrs Firstly,
PRINCIPLES OF INHERITANCE AND VARIATION

c o mm u ni c at io n w a s not easy (as it is now) in those da y s a n d h i s work c o u l d not be widely

p u b li ci s e d . S e c o n d l y , h i s concept of g e n e s (or factors , i n Mendel’s words) a s stable an d discrete
u n it s that controlled the expression of traits a n d , of the pair of alleles w h ic h did not ‘blend’ with
e a ch other, w a s not accepted by h i s co ntem po r ar ie s a s a n ex pl a na ti o n for the a pp a re n tl y
c o n t i n u o u s v a r i ati on seen i n n a t u r e . Thirdly , Mendel’s approach of u s i n g mathemat ics to explain
biological p h e n o m e n a w a s t ot a ll y n e w a n d u n a c c e p t a b l e to m a n y of the biologi sts of h is time.
F i n a l l y , t h o u g h Mendel’s w o rk s ugg e ste d t hat factors (genes) were discrete un i t s , he co uld not
provide a n y p h y s i c a l proof for the existence of factors or s a y w h a t they were m a d e of.
I n 190 0, three Scientists (de Vries, Correns and von Tschermak) INDEPENDENTL Y rediscovered
Mendel’s resu lts 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. T h is led to
the discovery of structures in the nuc le u s that appeared to double a n d divide j ust before eac h cell
division. These were called c h ro mo s o m e s (colored bodies, a s they were visualised by staining). B y
1 90 2 , the chromosome movement during meiosis ha d been worked out. Walter S u t t o n a n d
Theodore Boveri NOTED that the be ha v io u r of c h r o m o s o m e s w a s p a r a l l e l to the b e h a v i o u r of
g e n es a n d u s e d chromosome movement (Figure 5.8) to explain Mendel’s laws (Table 5.3). Recall that
you have studied the behaviour of chromosomes during mitosis (equational division) a n d d ur i n g
meio sis (reduction division). T h e important th ings to remember are that chromosomes a s well a s
genes occur in pairs . The two alleles of a gene pair are located on homologous sites on homologous
chromosomes.

F i g u r e 5 . 8 Meiosis and germ cell formation in a cell with four chromosomes.

C a n you see how c hromos ome s segregate w he n g erm c ells
are formed?

81

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b/w G1 & G2 there is S- Phase, where duplication of DNA take place.
Now at anaphase , it can be same as parental chromatids, goes to opposite
poles,, or other possibility is , synapsis during prophase –I where
recombination has taken place , so possibility of new combination in germ cell
is also possible.
 BIOLOGY

• 1. Like hereditary traits the T a bl e 5. 3: A C o m p a r i so n between t he Beha v i o ur of C h r o m o s o m es

chromosomes retain their a nd G e n e s
number, structure and A CH BG
individuality throughout
Occur in p a irs Occur in p a irs
the life of an organism and
from generation to Seg r eg a te at the time of gam ete Segregate at gamete formation a nd only
formation su c h that only one of each one of ea ch p air is transm itted to a
generation. The two pair is transmitted to a gamete gamete
neither get lost nor mixed
Independent pairs segregate On e pair segregates in d ependently of
up. They behave as units. independently of each other another pair
• . Both chromosomes as
C a n y o u tell w h ic h of these columns A or B represent the chromosome
well genes occur in pairs in
a n d w h ich represents the gene? H o w d id y o u decide?
the somatic or diploid cells.
The two alleles of a gene D ur ing Anaphase of meiosis I, the two chromosome pairs can align
pair are located on at the m eta ph as e plate independently of each other ( Fig ure 5.9). To
homologous understand this, compare the chromosomes of four different colour in
chromosomes. Both the left a n d right columns. I n the left colu mn (Possibility I) orange a nd
chromosomes as well as green is segregating together. B u t in the right h a n d column
genes segregate at the (Possibility II) the orange chromosome is segregating with the red
time of gamete formation chromosomes .
such that only one of each Possibility I Possibility II
One long orange an d short green One long orange a n d shor t red
pair is transmitted to a chrom osome an d long yellow a nd chr omosome a n d long yellow a n d
gamete. short red chromosome at the short green chromosome at the
• A gamete contain only one sam e pole sam e pole
chromosome of a type and
only one of the allele as a
trait.
• The paired condition of
both chromosomes as well
as Mendelian factors is
restored during
fertilization.

82

F i g u r e 5 . 9 Independent assortment of c hromos ome s

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PRINCIPLES OF INHERITANCE AND VARIATION

S u t t o n a n d B over i a r gu ed that the pai r i ng a n d separ ati on of a pai r

of c h r om o s om e s wo ul d l ead to the segr egati on of a p ai r of factor s
they carr ied. SU T T O N UN ITED the knowl edg e of ch ro mo so mal
s e g r e g a t io n w i t h M e n d e l ia n p r i n c ip l e s a n d c a l l e d it t h e
c h r o m o s o m a l t h e o r y of in h e r it ance .
Fol l owi ng t h i s s y n t h e s i s of i deas, exp er i m ental ver ification of the
c h r om o s o m a l theor y of i nh er i t an ce by T h o m a s H u n t M or g a n a n d h i s
col l eagues , l ed to di sc ov er i ng the b a s i s for the v ar i a ti o n that s e x u al (a) (b)
r epr oducti on pr oduc ed. Mor gan wor ked wi th the ti ny fr ui t flies,
F i g u r e 5 . 1 0 Drosophila
D r o s o p h i l a m e l a n o g a s t e r ( Fi gur e 5. 10) , w h i c h were fo un d ver y melanogaster (a) Male
s u i t a b l e for s u c h s t u d i e s . T h e y c o u l d be gro wn o n (b) Fe male

s i mp l e syn t h e t ic m e d i u m i n th e la b o rato ry . T he y com plete thei r life cycl e

i n a bo ut two weeks, a n d a si ng l e m a t i ng co ul d p r o duc e a l ar ge n u m b e r of
Why did he chose Drosophila ?
pr ogeny flies. Al so, there wa s a c lea r d ifferen t iat ion of th e se xe s – the male
I t h as a s ma l l e r n u m b e r
a n d female flies are easily d i s t i n g u i sh ab l e . Al so, i t h a s m a n y types of
( 4 p ai r) o f
her edi tar y v a r i a t i o ns that c a n be seen wi th l ow power m i c r os cop es . m o rp h o l o g i c a l l y d i s t i n c t
c h r o m o s o me. It h as
h e t e ro mo rp h i c (
5 . 3 . 3 L i n ka g e ( 1 s t seen by Bateson & Punnet in Lathyrus odoratus, and d i s s i m i l a r) sex
c h r o m o s o me s in the
called it coupling & repulsion) a n d Re c o m b i n a t i o n
male (XY). So
Morgan carried out several dihybrid crosses in Drosophila to study genes that t ra n s m i s s i o n of
were sex-linked. The crosses were similar to the dihybrid crosses carried out by h e t e ro mo rp h i c c an b e
Mendel in peas. For example Morgan hybridised yellow-bodied y, white- e a s i l y s t u d i e d f ro m o n e
g e n e ra t i o n t o an o t h e r .
eyed w females to brown-bodied y+, red-eyed males w+ and intercrossed their
s i z e 2m m , s o e as i l y
F 1 progeny. He observed that the two genes DID NOT segregate independently of
r a i s e d i n b o t t l e s . Ca n b e
each other a nd the F 2 ratio deviated very significantly from the 9:3:3:1 ratio fed on si mple f ood ;
(expected when the two genes are independent). m a n g o b a n a n a, y e a s t .
Morgan a n d h i s group knew that the genes were located on the X F e ma l e s a re b i g g e r an d
chromosome (Section 5.4) a n d saw quickly that when the TWO GENES in a h ave o vi p o s i t o r (egg
dihyb rid c ro ss were situated on the S AM E CHROMOSOME, the proportion l a y i n g s t r u c t u re ) a t t h e
of parental gene combinations were M U C H HIGHER than the non -parental back.
type ALWAYS . Morgan attributed thi s due to the physical association or
linkage of the two genes a n d COINED the term L I N K A G E to describe this
P H YSI CAL ASSOCIATION of genes on a chromosome an d the term
R E C O M BI N AT I ON to describe the generation of non-parental gene
combinations (Figure 5.11). Morgan a n d h i s group also found that even
when genes were grouped on the same chromosome, some genes were
very tightly linked (showed very low recombination) (Figure 5.11, C r o s s A)
while others were loosely lin ked (showed h igher recombination) (Figure
83
5 . 1 1 , C r o s s B). F o r example he found that the genes white and yellow were
very tightly linked an d showed only 1.3 per cent recombination while white
a n d miniature w i n g s h o w e d 3 7 . 2 pe r c e n t r e c o m b i n a t i o n . H i s s t u d e n t
ALFRED STURTEVANT u se d the FREQUENCY OF RECOMBINATION
BETWEEN gene pair s on the s am e chromosome a s a measure of the
distance between genes a n d ‘MAPPED’ their position on the chromosome.
Today genetic m a p s
2022-23
 BIOLOGY

are extens ively used a s a STARTING POINT in the sequencing of whole

genomes a s was done in the case of the H u m a n Genome Sequencing
Project, described later.

84

Fi g ure 5 . 1 1 Linkage: Results of two dihybrid crosses conducted by Morgan. Cr os s A shows

crossing between gene y and w; Cros s B shows crossing between genes w and m.
Here dominant wild type alleles are represented with (+) sign in superscript
Note: T he strength of lin kage between y and w is higher than w and m .

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 Species 2n n pair Linkage
group
Pea 14 7 7 7
Maize 20 10 10 10

Drosophilla ( fruit fly/ black bellied dew lover). Drosop 8 4 4 4

hilla

Morgan in 1910 found 1 white eyed MALE fruit fly in vial of all redhuamn
eyed fly46
group. 23 23 23

The white eyed character was sex linked and carried by X Chromosome in drosophila.
Sex linked inheritance in drosophila
• Sex chromosome does not carry only sex determining gene but other gene too
• There are around 150 sex linked character in Drosophilla
• Most easy is eye colour inheritance is carried on X . Y chromosome has no allele on it.

Morgan breeding experiment later extended by A.H Sturtvent, Bridges, H.J.Muller and found genes
are located in linear manner on chromosomes. Some of them lie close, so are linked together.
C.B. Bridge(1916) concluded that genes are physically associated with chromosome.

Sutton in 1903 pointed that number of character which follows Mendelian laws (laws of independent
assortment ) when tested singly ( as monohybrid) the number was much higher than chromosome
pair, that means there are many genes on chromosomes. Which says many genes must be located on
1a chromosome, but some genes remain linked and pass on in linked form.

LINKAGE: TRICKS TO SOLVE QUESTIONS

All genes which are present on one pair of homologous chromosome form 1 linkage group, because
genes which are present on one chromosome inherit together so we call them 1 linked group.
So, No. of Linked group = no. of haploid (n) homologous chromosome
FACTOTRS AFFECTING CROSSING OVER
Distance b/w genes = increase C. O
TEMPERATURE rise = increase C.O
X-Ray = inc. C.O
Age = Decrease in C.O

CROSSING OVER
PRINCIPLES OF INHERITANCE AND VARIATION

4. POLYGENIC INHERITANCE 3 Genes; AA/Aa/aa, BB/Bb/bb, CC/Cc/cc

No. of dominant allele determine the skin
Mendel’s studies mainly described those traits that have distinct alternate shade along with environmental factors.
forms s u c h a s flower colour whic h are either purple or white. B u t if you Full expression of trait in presence of ALL
dominant forms.
look arou nd you will find that there are m an y traits whi ch are not so
DO NOT follow mendelian ratio’s.
distinct in their occurrence and are spread across a gradient. For example, No. of dominant alleles;
i n h u m a n s we don’t j ust have tall or short people a s two distinct 6 AABBCC = negro
alternatives but a whole range of possible heights. S u c h traits are generally 5 Dominant = very dark
controlled by three or more genes and are th u s called a s polygenic traits. 4 Dominant = dark
Besides the involvement of multiple genes polygenic inheritance also takes 3 Dominant = intermediate
2 Dominant = fair
into account the INFLUENCE OF ENVIRONMENT. H u m a n s k in colour is 1 dominant = very fair
another classic example for this. I n a polygenic trait the phenotype 0 aabbcc = albino.
reflects the CONTRIBUTION of each ALLELE, i.e., the effect of each allele
is ADDITIVE. To understand this better let u s assume that three genes A, 1:6:15:20:15:6:1 gives bell shaped curve , in
B , C control s ki n colour in h u m a n with the dominant forms A, B and C the same above mentioned sequence.
responsible for d a rk s k i n colour a nd the recessive forms a, b a nd c for So polygenic inheritance is
light s k i n colour. The genotype with all the dominant alleles ( A A B B C C ) quantitative/metric inheritance, as skin
will have the darkest s k i n colour a n d that with all the recessive alleles color grades with no. of dominant allele.
(aabbcc) will have the lightest sk i n colour. A s expected the genotype with No. of phenotypes = 2n+1 n= no. of
three dominant alleles a nd three recessive alleles will have a n polygenes
No. of possible genotype = 3n
intermediate s k i n colour. In this manner the number of each type of
alleles in the genotype would determine the dark nes s or lightness of the
s k i n in a n individual.

5. PLEIOTROPY
We have so far seen the effect of a gene on a single phenotype or trait.
There are however instances where a single gene ca n exhibit multiple
phenotypic expression. S u c h a gene is called a pleiotropic gene. The
underlying mechani sm of pleiotropy in most cases is the effect of a gene
on metabolic pathways which contribute towards different phenotypes.
A n example of this is the disease phenylketonuria , which occu rs in
h u m an s . The disease is caused by mutation in the gene that codes for the
enzyme phenyl alanine hydroxylase (single gene mutation). This manifests
i ts el f t h r o u g h p h e n o t y p i c e x p r e s s i o n c h a r a c t e r i s e d b y m e n t a l
retardation a n d a reduction in hair a n d s k i n pigmentation.
5.6 S E X D E TE RMI NATION
The mechanism of sex determination ha s always been a puzzle before the geneticists.
The INITIAL CLUE about the genetic/chromosomal mechanism of sex determination
can be traced back to some of the experiments carried out in insects. I n fact, the
cytological observations made in a num ber of insects led to the development of the
concept of genetic/chromosoma l basis of sex-determination. HENKING (1891)
could trace a SPECIFIC NUCLEAR STRUCTURE all through spermatogenesis in a few 85
insects, a nd it was also observed by h im that 5 0 per cent of the s p er m RECEIVED
THIS STRUCTURE after spermatogenesis, whereas the other 50 per cent sperm DID
NOT receive it. Hen kin g gave a name to this structure a s the X BODY but he could
not explain its significance. Further investigations by other scientists led to the
CONCL USION that the ‘X body’ of H e n k i n g was in fact a chromosome

2022-23
 Sex
determinat
ion
BIOLOGY method in
insects
a n d that i s w hy it wa s given the n a m e X-
chromosome. It was also observed that in a large
number of INSECTS the mechanism of sex
determination is of the X O type , i.e., ALL EGGS bear
a n ADDITIONAL X - c h r o m o s o m e bes ides the
o t h e r c h r o m o s o m e s (autosomes). O n the other
hand, SOME of the sperms bear the X-chromosome
whereas SOME DO NOT.
Like E g g s fertilised by sperm having a n X - c hromos ome
(a) humans BECOME FEMALES a n d , those fertilised by sperms
that do not have a n X-chromosome become males.
Do you think the number of chromo so mes in the
male a n d female are equal? D u e to the
involvement of the X-chromosome in the
determination of sex, it was designated to be the
sex chromosome, and the rest of the c h r o m o s o m e s
(b)
w e re n a m e d a s autosomes .Gra ss hopp er is a n
example of X O type of sex determination in w hich
the males have only one X-chromosome besides the
autosomes, whereas females have a pair of X-
chromosomes.
T h e s e o b s e r v a t i o n s l e d to t h e investigation
of a n u m b e r of species to u n d e r s t a n d the
m e c h a n i s m of s e x determination. In a number of
(c) other insects and mammal s including man, X Y type
of sex determination is seen where both male and
F i g u r e 5 . 1 2 Determination of sex by chromosomal female have SAME NUMBER of chromosomes. A m ong
differences: (a,b) Both in hum ans and the ma l e s a n X - c h r o mo s o m e i s present bu t its
in Drosophila, the female has a pair of counter part is distinctly S MA L L ER a n d called the
X X chromosomes (homogametic) and the Y - c h r o m o s o m e . F e m a l e s , h o w e v er , h a v e a p a i r
male X Y (heterogametic) composition; of X - chromosomes. Both males and females bear
(c) In many birds, female has a pair of
dissimilar chromosomes Z W and male
same number of autosomes.
two similar Z Z chromosomes

Hence, the males have autosomes plus X Y , while female hav e

autosomes p l u s X X . I n h u m a n beings a n d i n Drosophila the MALES
have one X and one Y chromosome, whereas females have a pair of X-
chromosomes besides autosomes (Figure 5.12 a, b).
I n the above description you have studied about two types of s ex
determining mechanisms, i.e., X O type and X Y type. B u t in both
cases males produce two different types of gametes, (a) either with or
86 without X-chromosome or (b) some gametes with X-c hromosome an d
some with Y-chromosome. S u c h types of sex determination mechanism is
designated to be the example of male h eterogamety. In some other
organisms, e.g., birds, a different mecha ni sm of sex determination is
observed (Figure
5.1 2 c). I n this case the total numbe r of chromosome is same in both
males and females. B u t two different types of gametes in terms of the sex

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PRINCIPLES OF INHERITANCE AND VARIATION

chromosomes, are produced by females, i.e., female h e ter ogame ty . I n order

to have a distinction with the me cha ni s m of sex determination described
earlier, the two different sex chromosomes of a female bird h a s been
designated to be the Z and W chromosomes. I n these organisms the females
have one Z and one W chromosome, whereas males have a pair of Z-
chromosomes besides the autosomes.

1. S ex D eter m in a tio n i n H u m a n s
It h a s already been mentioned that the sex determining m echa nis m in case
of h u m a n s is X Y type. O ut of 2 3 pairs of chromosomes present, 2 2 pairs
are exactly same in both males a nd females; these are the autosomes. A pair
of X-chromosomes are present in the female, whereas the presence of a n X
a nd Y chromosome are determinant of the male characteristic . D u r i ng
spermatogenesis among males, two types of gametes are produced. 5 0 per
cent of the total sperm produced carry the X-chromosome and the rest 5 0
per cent h a s Y-chromosome besides the autosomes. Females, however,
produce only one type of ovum with a n X-chromosome . There is a n equal
probability of fertilisation of the ovum with the sperm carrying either X or Y
chromosome. I n case the ovum fertilises with a sperm carrying X-
chromosome the zygote develops into a female (XX) an d the fertilisation of
ovum with Y-chromosome carrying sperm results into a male offspring.
T h u s , it is evident that it is the genetic make up of the sperm that determines
the sex of the child. It is also evident that in each pregnancy there is always
5 0 per cent probability of either a male or a female child. It is unfortunate
that in our society women are blamed for giving birth to female children and
have been ostracised a n d ill-treated because of this false notion.

2. S ex D eter m in a tio n i n H o n e y Bee

The sex determination i n honey bee is b a s e d
o n t h e n u m b e r of s e t s of chromosomes a n
individual receives. A n offspring formed from
the union of a sperm an d a n egg develops as
a female (queen or worker), an d an
unfertilised egg develops a s a male (drone) by
means of parthenogenesis. T h i s means that
the m a l e s h a v e h a l f t h e n u m b e r of

chromosomes than that of a female. The F i g u r e 5 . 1 3 S e x determination in honey bee

females are diploid h a v i n g 3 2
chromosomes a nd males are haploid, i.e., having 1 6 chromosomes. 87
T h i s is called a s haplodiploid sex-determination system and h a s special
characteristic features s u c h a s the males produce s perms by mitosis
(Figure 5.13), they do not have father an d t h u s cannot have sons, but
have a grandfather a n d c a n have grandsons.
How is the sex-determination m e c h a ni s m different in the birds?
I s the sperm or the egg responsible for the sex of the ch icks?

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 BIOLOGY

5 . 7 MUTATION
Mutation is a phenomenon which resu lts in alteration of D NA
sequences an d consequently results in chan ges in the genotype a nd the
phenotype of a n organism. I n addition to recombination, mutation is
another phenomenon that leads to variation in D N A .
A s you will learn in Chapter 6, one D N A helix r u n s c ontinuously from
one end to the other in each chromatid, in a highly supercoiled form.
Therefore loss (deletions) or gain (insertion/duplication) of a segment
of D N A , result in alteration in chromosomes. Since genes are known to
be located on c h r o m o s o m e s , a l t e r a tio n i n c h r o m o s o m e s r e s u l t s
i n a b n o r m a l i t i e s or a b e r r a t i o n s . C h r o m o s o m a l
aberrations are commonly observed in cancer cells.
In addition to the above, mutation also arise due
to change in a single base pair of DNA. T h is is known
a s POINT MUTATION. A classical example of s u c h a
mutation is sickle cell anemia. Deletions and insertions
of base pairs of DNA , causes frame-shift mutations
(see Chapter 6).
The mec hanism of mutation is beyond the scope
of this disc u ss ion, at this level. However, there are
m a n y chemical a n d physical factors that induce
mutations. These are referred to a s mutagens. U V
radiations can cause mutations in organisms – it is a
mutagen.

8. GENETIC DISORDERS
1. Ped ig ree A n a l y s i s
T h e idea that disorde rs are inherited h a s been
prevailing in the h u m a n society since long. T h i s was
based on the heritability of certain characteristic
features in families. After the rediscovery of Mendel’s
work the practice of analysing inheritance pattern of
traits in h u m a n beings began. Since it is evident that
control crosses that can be performed in pea plant
F i g u r e 5 . 1 3 Symbols us e d in the h u m a n or some other organisms, are not possible in cas e
pedigree a n a l y s is of h u m a n beings, study of the family history about
i n h e r i t a n c e of a p a r t i c u l a r t r a i t p r o v i d e s a n

alternative. S u c h a n analysis of traits in a several of generations of a family i s

called the pedigree ana ly sis . In the pedigree analysis the inheritance of a
88
particular trait is represented in the family tree over generations.
I n h u m a n genetics, pedigree study provides a strong tool, which is utilised
to trace the inheritance of a specific trait, abnormality or disease. Some of the
important standard symbols used in the pedigree analysis have been shown in
Figure 5.13.
A s you have studied in this chapter, each a nd every feature in a ny
organism is controlled by one or the other gene located on the D N A present

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PRINCIPLES OF INHERITANCE AND VARIATION

in the chromosome. D NA is the carrier of genetic information. It is hence transmitted from one
generation to the other without any change or alteration. However, changes or alteration do take
place occasionally. Such a n alteration or change in the genetic material is referred to a s mutation. A
number of disorders in hu m a n beings have been found to be associated with the inheritance of
changed or altered genes or chromosomes .

5.8.2 Mendelian Disorders

Broadly, genetic disorders may be grouped into two categories – Mendelian disorders a nd
Chrom os oma l disorders. Mendelian disorders are mainly determined by alteration or mutation in
the single gene. These disorders are transmitted to the offspring on the same lines as we have
studied in the principle of inheritance. The pattern of inheritance of s uch Mendelian disorders can
be traced in a family by the pedigree analysis. Most common and prevalent Mendelian disorders are
Haemophilia, Cystic fibrosis, Sickle- cell anaemia, Colour blindness, Phenylketonuria, Thalassemia,
etc. It is important to mention here t hat s u c h Mendelian disorders may be Dominant or
recessive. B y pedigree analysis one can easily understand whether the trait in question is
dominant or recessive. Similarly, the trait may also be linked to the sex chromosome a s in case of
haemophilia. It is evident that this X-linked recessive trait shows transmission from carrier female
to male progeny. A representative pedigree is shown in Figure 5.14 for dominant and recessive
traits. D is cus s with your teacher and design pedigrees for characters linked to both autosomes
and sex chromosome.

(a) (b)

F i g u r e 5 . 1 4 R e pre s e ntative pedigree a n a l y s i s of (a) A u t o s om al d o m i n a n t trait (for e xample :

Myotonic dystrophy) (b) Autosomal recessive trait (for example: Sickle-cell anaemia)

C o lour B l indn es s : It is a sex-linked recessive disorder due to defect in either red or green
cone of eye resulting in failure to discriminate between red a n d green colour. T h i s defect is due 89
to mutation in certain genes present in the X chromosome. It occurs in about 8 per cent of
males a n d only about 0.4 per cent of females.
T h i s is because the genes that lead to red-green colour blindness are on the X chromosome.
Males have only one X chromosome and females have two. The son of a woman who carries

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 BIOLOGY

the gene h a s a 5 0 per cent chance of being colour blind . The mother is not herself colour blind because the gene is
recessive. That means that its effect is suppressed by her matching dominant normal gene. A daughter will not
normally be colour blind, unless her mother is a carrier a n d her father is colour blind.

H a e m o p h i l i a : T h i s sex li nked recessive disease , wh ich sh o ws its transmission from unaffected carrier female
to some of the male progeny ha s been widely studied. I n this disease, a single protein that is a part of the cascade of
proteins involved in the clotting of blood is affected. D u e to this, in a n affected individual a simple cut will result in
non-stop bleeding. The heterozygous female (carrier) for haemophilia MAY TRANSMIT the disease to sons.

The possibility of a female becoming a haemophilic is extremely RARE because mother of s u c h a female h a s to be
at least carrier a nd the father should be haemophilic (unviable in the later stage of life). The family pedigree of
Queen Victoria shows a number of haemophilic descendents a s she was a carrier of the disease.

S i ck le - c el l anaemia : T h i s is a n 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 H b 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 m ut ant gene to the progeny, t h u s exhibiting sickle-
cell trait (Figure 5.15). The defect is caused by the substitution of Glutamic acid

90

F i g u r e 5 . 1 5 Microgr aph of the red blood cells and the amino ac id composition of the relevant
portion of  -chain of haemoglobin: (a) Fro m a normal individual; (b) Fr om a n individual
with s ic kle-c ell anae m ia

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PRINCIPLES OF INHERITANCE AND VARIATION

(Glu) by Valine (Val) at the s ixth position of the beta globin chain of the
haemoglobin molecule. The s ubs titution of amino acid in the globin protein
results due to the s ingle bas e s ubs titution at the sixth codon of the beta globin
gene from G A G to G U G . The mutant haemoglobin molecule undergoes
polymerisation under low oxygen tension causing the change in the shape of the
R B C from biconcave disc to elongated sickle like structure (Figure 5.15).
P h e n y l k e to nu r ia : T h i s inborn error of metabolism i s also inherited a s the
autosomal recessive trait. The affected individual la cks an enzyme that converts
the amino acid phenylalanine into tyrosine. A s a result of this phenylalanine is
accumulated and converted into phenylpyruvic acid a n d other derivatives.
Accumulation of these in b r ain results in mental retardation. These are also
excreted through urine because of its poor absorption by kidney.
T h a l a s s e m ia : T h i s is also a n 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 syn th esis of one of the globin
c ha in s (α and β chains ) that make u p haemoglobin. T h i s c a u s e s 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. I n α Thalassemia , production of α globin
chain is affected while in β Th alas s emia, production of β globin chain is affected. α
Thalassemia is controlled by two closely linked genes H B A 1 an d H B A 2 on
chromosome 1 6 of each parent a n d 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 β Thalas s emia is controlled by a single gene H B B on
chromosome 1 1 of each parent a nd 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 g lo bin m o l ec ul e s while the latter is a
qualitative problem of synthesising a n incorrectly functioning globin.
5 . 8 . 3 C h r o m o s o m a l D iso rd ers
The chromosomal disorders on the other h a n d are caused due to absence or excess
or ab n or mal arrangement of one or more chromosomes.
Failure of segregation of ch r o matids 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 los s of a n X chromosome in h uma n females. Failure of
cytokinesis after telophase stage of cell division results in a n increase in a whole set
of chromosomes in a n organism and, this phenomenon is known a s polyploidy. This
condition is often seen in plants.
The total number of chromosomes in a normal h u m a n cell is 4 6
(23 pairs). O u t of these 2 2 p a i r s are a uto so me s a n d one p a ir of chromosomes
are sex chromosome. Sometimes, though rarely, either a n additional copy of a 91
chromosome m a y be included in a n individual or a n

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Autosomal dominant: it will cause disease in dominant condition, i.e AA/Aa =diseased
Aa = normal
So, Autosomal dominant means either diseased or normal , never carrier.
AUTOSOMAL RECESSIVE: It will be diseased only in aa state.
AA = normal Aa = normal but carrier .
X-LINKED DOMINANT IN MALES: male has only one X-chromosome, so if that X is normal so
NORMAL, but if X is mutated X’Y = so one is enough to cause disease.
IN FEMALES: females have XX condition, and as it is dominant case, so X’X/X’X’ = diseased,
XX = NORMAL.
X-LINKED RECESSIVE in MALES: same as x-linked dominant as they have only one X.
IN FEMALES: X’X’ = DISEASED, X’X = CARRIER , XX = Normal.
Y-LINKED : As Y is only in males, SO XY = Normal , XY’ Diseased
 BIOLOGY

Fl at b ac k of head B ro ad flat face

Man y “loops” on
finger tips
B i g an d wrinkled
P al m crease tongue

Congenital heart
disease

Figure 5. 16 A representative figure s h owing a n individual inflicted with D o w n ’s

s y n d rome a n d the corresponding chromosomes of the individual

i n d i v i d u a l of chromosomes m a y l a c k on e of a n y
on e p a i r . These situations are known a s trisomy or
monosomy of a chromosome, respectively. S u c h a
situation leads to very serious consequences in the
individual . Down’s syndrome, Turner’s syndrome,
Klinefelter’s sy n d ro m e are c o m mo n exa mp les of
chromosomal disorders.
Down’s S yn d rom e : The cause of this genetic disorder
i s th e p r e s e n c e of a n a d d i t i o n a l c o p y of t h e
chromosome number 2 1 (trisomy of 21). T hi s disorder
was first described by Lan gdon Down (1866). The
affected individual is short statured with small round
head, furrowed tongue a n d partially open m o u th
(b) (Figure 5.16). Palm is broad with characteristic palm
(a) crease. Ph y s i ca l , p s y chomo tor an d m en ta l
Tal l stature Shor t stature and development is retarded.
with feminised underdeveloped
Klinefelter’s S yn dr om e : T hi s genetic disorder is also caused
char acter feminine character
due to the presence of an additional copy of X - chromosome
resulting into a karyotype of 47 , X X Y . S u c h a n individual has
F i g u r e 5 . 1 7 D i ag r am m a t ic r epr es e -
overall masculine development, however, the feminine
ntation of genetic disorders due to se x
chromosome composition in h u m a n s : development (development of breast, i.e., G ynae comas t ia )
(a) Klinefelter Syndr om e; (b) T urne r’s i s also expre ss ed (Figure 5.1 7 a). S u c h in dividuals are
Syndrome sterile.
T u r n e r’ s S y n d r o m e : S u c h a disorder is caused due
92 to the absence of one of the X chromosomes, i.e., 4 5 with X 0 , S u c h females are
sterile as ovaries are rudimentary besides other features including la ck of
other s econdary sexual characters (Figure 5.17 b).

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PRINCIPLES OF INHERITANCE AND VARIATION

S U M M A RY
Genetics is a br anc h of biology wh ich deals with principles of inheritance
and its practices. Progeny resembling the parents in morphological and
physiological features ha s attracted the attention of m an y biologists.
Mendel w as the first to s tudy this phenomenon s ystematically. While
s t u d y i n g the pa t te r n of i n he r i t an c e i n pea p l an t s of c o n t r a s t i n g
c harac ters, Mendel proposed the principles of inheritance, w hic h are
today referred to as ‘Mendel’s L aw s of Inheritance’. H e proposed that
the ‘factors’ (later name d as genes) regulating the charac ters are found
i n p ai rs k n o w n a s alleles . H e obs erved that the e xpre s s ion of the
c harac ters in the offspring follow a definite pattern in different–first
generations (F 1 ), second (F 2 ) and so on. Some characters are dominant
over others. The dom in ant c harac ters are expressed when factors are
in heterozygous condition (Law of Dominance). T he recessive characters
are only e xpr ess e d in hom oz ygous c onditions . T he c harac te rs never
blend in heterozygous condition . A recessive c harac te r that w as not
expressed in heterozygous conditon may be expre ssed again when it
becomes homozygous. Hence, c harac ter s segregate while formation of
gametes (Law of Segregation).
Not all c har ac ter s s how tr ue dominanc e . Some c harac te rs s how
incomplete, and some s how co-dominance. W he n Mendel studied the
inheritance of two c haracter s together, it w as found that the factors
independently as sort and combine in all permutations a n d
c ombinations (Law of Independent Assortment). Different combinations
of gametes are theoretically represented in a square tabular form know n
as ‘Punnett Square’. T he factors (now know n as gene) on chromos omes
re g ulating the c har ac te r s are c alled the genotype a nd the ph ys i c al
expression of the c hr arac te rs is called phenotype.
After know ing that the genes are located on the c hromosomes, a
good correlation w as draw n between Mendel’s laws : segregation and
ass ortme nt of c hr om os om es dur ing meiosis. T he Mendel’s law s were
extended in the form of ‘Chromos omal Theory of Inheritance’. Later, it
was found that Mendel’s law of independent assortment does not hold
true for the genes that were located on the same chromosomes. These
g ene s were calle d a s ‘linked genes’. Clos e ly located g e nes ass orted
together, and distantly located genes, due to recombination, assorted
independently. L inkag e m aps , therefore, corresponded to arrange ment
of genes on a chromosome.
Man y genes were linke d to s e xe s als o, a n d called a s s e x-linke d
genes. T he two se xe s (male a nd female) were found to have a set of
c h r o m o s o m e s w h i c h wer e c o m m o n , a n d a n o t he r s e t w h i c h w a s
different. T he c hrom osom es w hic h were different in two se xes were
n a m e d a s s e x c h r o m o s o m e s . T h e r e m a i n i n g se t w a s n a m e d a s
autosome s. I n h u m a n s , a norm al female ha s 2 2 pairs of autos omes
and a pair of se x c hromos omes (XX ). A male h a s 22 pairs of autosomes
and a pair of s ex chromosome as X Y . In c hic ken, se x chromosomes in 93
male are Z Z , and in females are ZW.
Mu tation is defined a s c hang e in the genetic m ate rial . A point
mutation is a change of a single base pair in D N A. Sickle-cell anemia is
c ause d due to change of one base in the gene coding for beta-chain of
he mog lobin . Inhe r itable m ut at io ns c a n be s tudie d by g en e ratin g a
pedigree of a family. Som e m utations involve c hang e s in whole set of

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 BIOLOGY

chromosomes (polyploidy) or change in a subset of chromosome number

(aneuploidy). T h i s h e lpe d in unde rs tandi ng the mutational bas is of
genetic disorders. Down’s syndrome is due to trisomy of chromosome 21,
where there is an extra copy of chromosome 21 and consequently the
total num be r of chromosome becomes 47. In Turner’s syndrome, one X
c hr om os ome is m is s i ng a nd the s e x c hromos ome is as X O , a nd i n
Klinefelter’s syndrome, the condition is X X Y . These can be easily studied
by analysis of Karyotypes.

EXERCISES
1. Mention the advantages of selecting pea plant for experiment by Mendel.
2. Differentiate between the following –
(a) D ominanc e and Recessive
(b) H om ozygous and Heterozygous
(c) Monohybrid and D ihybrid.
3. A diploid org anis m is heterozygous for 4 loci, how m a n y types of gametes
c an be produced?
4. E x p l a i n the L a w of D o m i n an c e us ing a monohybrid c ros s .
5. Define and design a test-cross.
6. U s ing a P unnett Square , workout the distribution of phenotypic features
in the first filial generation after a cros s between a homozyg ous female
and a heterozygous male for a single loc us.
7. When a cross in made between tall plant with yellow seeds (TtYy) and
tall plant with green seed (Ttyy), what proportions of phenotype in the
offspring could be expected to be
(a) tall and green.
(b) dwarf an d green.
8. Two heterozygous parents are crossed. If the two loci are linked what
would be the distribution of phenotypic features in F 1 generation for a
dibybrid c ros s ?
9. Briefly mention the contribution of T .H . Morgan in genetics.
10. What is pedigree analys is? Sug g e s t how s u c h a n analys is, c an be useful.
11. H ow is s e x determined in h u m a n beings?
12. A child h as blood group O. If the father h as blood group A and mother
blood group B , work out the genotypes of the parents and the possible
genotypes of the other offsprings.
13. E x p l a in the following terms with example
94
( a ) C o - d o m i n a nc e
(b) Incomplete dominanc e
14. What is point mutation? Give one example.
15. Who had proposed the c h r omosom al theory of the inheritance?
16. Mention any two autos omal genetic disorders with their s ymptoms .

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