82 COMPREHENSIVE LABORATORY MANUAL IN

BIOLOGY-
homozygous dominant (AA) and heterozygens (Aa) individuals have
homozygous recessive (aa) individuals have straight hairline (Fig. widow peak, while
15.3)

Tongue
rolling

Fig. 15.2. Tongue rolling. Fig, 15.3. Widow's peak and straight hairline,
10. Haemophilia is a sex linked disorder which is also called bleeder's disease in which &.
patient lack blood clotting factor and continue to bleed even froma minor cut. The diseaso
is caused due to a recessive sex linked gene h carried by Xchromosome. Afemale beconme
haemophilic only when both its Xchromosomes carry the gene (X'X). Afemale havine
only one allele for haemophilia (XX) is a carrier. In males, a single gene for the defect
able to express itself as the Y-chromosome is devoid of any corresponding allele (Xky

EXPERIMENT 15.1
Objective. To study the prepared pedigree charts of genetic traitssuch as
rolling of tongue, blood groups, widow's peak, colour blindness etc.
REQUIREMENTS
Prepared pedigree chart of the genetic traits.

PROCEDURE
Observe the given pedigree chart and write comment on it.
Problem 1(Inability to roll the tongue)
Inability to roll the tongue appears in the progeny 1 2
due to recessive gene. Find out the possible genotype of
the family members in the following pedigree.
Solution/Comments II 4
1 2 3
The trait is present in the father parent due to
presence of two recessive genes ( [ 2 aa). The trait can
appear in the progeny only when it becomes homozygous III
5
recessive. Since,only one of the progeny carries the trait. 1 2 3 4

the mother parent must be heterozygous (test cross Aa

1
aa
2
Aa x aa = 50% heterozygous, 50% recessive), i.e., I-1
Aa, II-1 is aa. II2, II 3and II-4 are heterozygous
(test cross) and, therefore, Aa. The cross between II-1 AA
II Aa Aa Aa 4
and her husband also produces one homozygous 1 3
recessive (III2 = aa). This is possible only if the
outsider is heterozygous (Aa). Naturally III 1 is also a
A A A
III Aa aa
heterozygous (Aa). 1 2 3 4 5
 cORE EXPERIMENTS 83

II-3is heterozygous (Aa). Her husband can be either heterozygous (Aa x Aa AA, 2Aa,
homozygous dominant (Aa x AA 2AA, 2Aa).
na) or tongue the possibility is
Since none of the progeny is with recessive
rolling that the new entrant in the pedigree is homozygous dominant
4, III5 are either AA or Aa.
(AA).III-3, III
Problem 2 (Widow Peak)
Inthe pedigree given below, indicate whether the shaded symbols belong to dominant
recessive trait. Also give
genotype of the whole pedigree.
or I

II
1 2 3 4

III
1 2 4 5

Solution/Comments
Since the shaded symbol appears in all the aa
offspring, father must be homozygous dominant while 1

the mother homozygous recessive (AA x aa = all Aa)

hecause in all other cases this possibility is absent
aa Aa
(Aa x aa = 2Aa + 2aa ; aa X AA = all Aa: aa x Aa = aa Aa
1
Aa Aa
2 3 4
2aA + 2aa). All the members of II generation will,
therefore, be heterozygous (Aa). This is further
confirmed by marriage of II-1 with homozygous III aa Aa aa Aa aa
both
recessive (Aa x aa = aa + Aa) bears children of 1 2 3 4 5
recessive can produce both recessive
the parental types. Marriage of II-3 with the homozygous
and heterozygous.
Problem 3 (Colour blindness)
pedigree chart given
Colour blindness is a sex linked recessive disorder of humans. Thepattern of inheritance
the
below shows the inheritance of colour blindness in one family. Study
and answer the following questions.

4 5 6 7 8
3 O

11 12 13 14 15
10
5 and 6 in the pedigree chart.
() Give all the possible genotypes of the members 4, blindness. The mem
blood test shows that the individual 14 is a carrier of colour
(z) A 15 has recently married the member numbered 14. What is the possibility that
ber number
their first child will be hemophilic male?
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Solution/Comment
BIOLOGY-X
(i) The allele for colour blindness is present on X chromOsome (X°), while
the
some Y does not bear corresponding allele for this character.
" A male has only one X chromosome, which he receives from his mother.
chromo-
" He is colour blindness if his mother is carrier.
" A femnale becomes colourblind, when her mother is a
carrier and father is colourblina
Thus, in the above case
The genotype of number 4 will be XX, that of member 5 will X° Y and that of
will be XY. memhber e

Carrier woman X Normal man.

x°x XY

Gametes

Possible xX x°Y XY
progeny XX
Carrier Colourblind Normal
Nomal
female male male
female
The possibility of Ist child to be colourblind will be 1/4 = 25%.

VIVA VOCE
Q. 1. What is meant by pedigree ?
Ans. A diagrammatic record of inheritance of a particular trait/traits over two or more
generation in a family tree.
Q. 2. What is pedigree analysis ?
Ans. It is analysis of diagrammatic record of inheritance of a particular trait/traits over two
or more generation in a family tree.
Q. 3. What does the synmbol square represent in a pedigree ?
Ans. Square represent the male progeny.
Q. 4. What does the horizontal line represent in a pedigree ?
Ans. The horizontal line represent the parents.
Q. 5. What is the importance of pedigree analysis ?
Ans. It helps in knowing the possibility of presence of a trait in homozygous or heterozygous
state in a particular offspring.