KRISTU JAYANTI COLLEGE

BANGALORE-560077

CERTIFICATE
This is to certify the project entitled
A study on gene and genotypic frequencies of alleles controlling
autosomal and sex-linked Mendelian traits among the student population
of Kristu Jayanti College
Has been satisfactorily completed by
MUNNA GAUTAM
11JJS75032
In fulfillment of the 6th semester BSc Genetics course at
KRISTU JAYANTI COLLEGE
As prescribed by Bangalore University.

HEAD OF THE DEPARTMENT

Dr. Elcey .C.D

SIGNATURE OF THE GUIDE

Ms. Tresa Tony
DATE
CENTRE: KRISTU JAYANTI COLLEGE

ACKNOWLEDGEMENT

I thank almighty for giving me the zeal to complete this project with my
limited knowledge and competence. I am grateful to certain individuals who
have put their entire self to help me accomplish what I have gained.
First of all, I would like to express my gratitude to the management of Kristu
Jayanti College, the prestigious institute which has helped me to realize
several responsibilities in my total upbringing. I would like to thank Rev. Fr.
Sebastian T.A., Principal of Kristu Jayanti College who has been a real
inspiration to me for completing this work in time.
I am extremely obliged to Dr. Elcey C.D, Head of Dept. of Bioscience, for
encouraging and motivating me to do this work and make this a reality.
I also express my heartfelt gratitude to Ms. Tresa Tony who has been the right
source of encouragement, under whose supervision and able guidance I have
been rightly shown to put this project as a priority and in my entire effort in
claiming in my potentials.
This acknowledgement would be incomplete if I failed to thank my classmates
and friends for pointing out errors and helping me throughout the project.
I would also like to thank my beloved parents immensely for all the support
and their encouragement which has helped me to get through rough patches.
If not for the participation of all these individuals and a good many people,
this project would have been incomplete in a big way. I thank them
wholeheartedly for their support

INDEX

CONTENTS
Introduction
Objective
Review of Literature
Materials and Methods
Analysis of Results
Discussion and Conclusion
Summary
Bibliography

PAGE NUMBER

INTRODUCTION
Genetics is the study of heredity,the process by which characteristics are
passed from parents to offspring so that all organisms,human beings
included,resemble their ancestors.The central concept of genetics is that the
heredity is controlled by a vast number of factor called genes,which are
discrete physical particles present in all living organisms.
The genetical studies for the inheritance of phenotypic traits in a given
population is known as population genetics. The population genetics is a
quantitative science and to calculate the results of the mode of inheritance of
genes in a given population, various statistical and mathematical models are
employed.
Gregor Johann Mendel was a Austrian monk and was born in July 22 nd 1822
in Heinzendorf in Austrian ,Silesia.. He is therefore called Father of
Genetics. Mendel conducted is experiments on garden pea plant and also
published a paper Experiments on plant hybridization. Mendel used edible
pea (Pisum sativum) a best material for his hybridization experiments. Gregor
also attributed the theories of heredity, based on his work on pea plants.
The inheritance of individual genes is governed by mendelian principles, but
the frequencies of these genes in a population may be influenced by many
factors like
the size of population and frequency of a particular gene and also includes
several other factors.
A population of a particular species includes many inbreeding groups. The
inbreeding may form a community within defined geographical boundaries
and are Mendelian population. A mendelian population, thus is a group of
sexually reproducing organisms with a relatively close degree of genetic
relationship (such as species, subspecies, breed, variety, strain, etc) residing
within defined geographical boundaries where interbreeding occurs.
To get a F2 3:1 phenotypic ratio of a monohybrid cross, we began with two
homozygous parental strains, such as AA and aa ,according to Gardner-1972,

A frequency is the ratio of the actual number of a individuals. But in

mendelian population, frequency of alleles may vary considerably .If all the
gametes produced by a mendelian population are considered as a hypothetical
mixture of genetic units from which the next generation will arise, we have
the concept of a gene or gamete pool.
The percentages of gametes in the gene pool for a pair of alleles (A and a)
depend upon the genotypic frequencies of the parental generation whose
gametes form the pool. Thus, if a population is of dominant genotype AA ,
then the frequency of the dominant alleles in the gene pool will be relatively
high and the percentage of gametes bearing recessive alleles (aa) will be
correspondingly low.
In all living organisms phenotypic characteristics are expressed externally but
are determined by the genes residing in chromosome. This was first
recognized by Gregor Mendel . The characters controlled by the genes are
termed as Mendelian Traits. Thus the traits are often determined by a pair of
genes with expression. The genes reside in the somatic chromosomes namely
sex linked traits.

Hardy Weinberg Law

The Hardy Weinberg Law is the fundamental law of population genetics
and provides the basis for studying Mendelian populations. This law was
developed by G. H. Hardy (1908) was a British mathematician in England
and Wilhelm Weinberg (1909) in Germany.
The Hardy Weinberg Law( also known as the Hardy Weinberg equilibrium,
model or theorem) states that the genes and the genotypic frequencies in a
Mendelian population remain constant generation after generation in an
infinitely large interbreeding population in which mating is at random and no
selection, mutation, migration or random drift occur.
In the simplest case of a single locus with two alleles denoted A and a with
frequencies f(A) = p and f(a) = q , respectively, the expected genotype
frequencies are f(AA) = p2 for the homozygotes, f(aa) = q2 for the aa
homozygotes, and f(Aa) = 2pq for the heterozygotes . The genotype
propotions p2 ,2pq and q2 are called Hardy Weinberg propotions.
The principle was named after G.H Hardy and Wilhelm Weinberg , who first
demonstrated mathematically and is called as Hardy Weinberg equation.
The Hardy Weinberg equation is as follows:

P = the frequency of the dominant allele (represented by A)

Q = the frequency of the recessive allele (represented by a)
For a population in genetic equilibrium
p + q =1
(p + q)2 =1
So,
p2 + 2pq +q2 =1
where ,
p2 = frequency of AA (homozygous dominant)
2pq = frequency of Aa (heterozygous dominant)
q2 = frequency of aa (homozygous recessive)
Many human traits follow mendelian inheritance, some of them are as
follows.
Eye color, Tongue rolling , Widows peak, Hitchhikers thumb, Mid digital
hair, Clasping of hands, Hair pattern, Ear lobe, Dimple cheeks
This experiment was conducted at Kristu Jayanti College among 50 students
based on the following traits.
Autosomal Traits:
1. Hair pattern: Curly hair was found to be a dominant trait ,wheras the
straight hair was found to be recessive trait.
2. Dimple cheek: Dimple cheek was found to be Dominant trait whereas
absence was found to be Recessive
3..Widows Peak: A distinctive downward point in the hairline is known as
widows peak This is a dominant trait. If the hairline is straight then recessive
genes are present.
Sex-Linked Trait:
Hypertrichosis : It is aY-linked inheritance in which the transmission of trait
only in males. It is characterized by the formation of Hairy pinna.

Objective:
The survey on Mendelian traits was surveyed on the population of 50
students of Kristu Jayanti College among the age group of 18 25years, who
where from the north eastern parts of India. The population was selected
randomly. The students were observed for the presence of autosomal traits
(widows peak , mid-digital hair, attached ear lobe) and sex-linked trait
(hypertrichosis).

METHODOLOGY
1. DATA COLLECTION
For the data collection 50students were selected in Kristu Jayanti College who
comes under 18-23 age limit. They were randomly picked and were
interviewed personally.
First a description about the survey and the traits which are being examined
was given to the each individual and their trust was gained by the interviewer.
2. DATA ANALYSIS
The data was tabulated and the gene and genotypic frequencies were
collected.
3. CALCULATION
According to Hardy Weinberg Equation, the gene and genotypic frequencies
are as follows:
p+q=1
where,
p = Genotypic frequency of dominant allele
q = Genotypic frequency of recessive allele
Hardy Weinberg equation can also be written as
p2 + 2pq + q2 = 1
p2 = Genotypic frequency of homozygous dominant trait.
2pq = Genotypic frequency of heterozygous dominant trait.
q2 = Genotypic frequency of homozygous recessive trait.
q2 =R/N

R = Number of individuals carrying the recessive trait.

N = Total number of individuals
q = R+ N
p = 1-q

As the homozygous dominant and heterozygous dominant individuals cannot

be differentiated , the number of individuals showing the dominant phenotype
is considered irrespective whether they are homozygous or heterozygous in
nature. Once the value of p and q is determined, the genotypic frequencies can
be calculated. Analysis of distribution traits with respect to the population
number was also done.
5. STATISTICAL ANALYSIS
The stimulated valuation of results was done by Chi-square analysis.
Chi- square = x2 = (O-E)2 / E
O - Observed genotypic frequencies
E - Expected genotypic frequencies
Expected frequency of p2 (AA) = N
Expected frequency of 2pq (Aa) = N
Expected frequency of q2 (aa) = N
Expected frequency of dominant phenotype (AA + aa) = { ( N) + (
N)}
Expected frequency of recessive phenotype (aa) = [ N]
Chi-square test involves testing of goodness of fit. For this a Null
hypothesis ( H0)
and an alternate hypothesis (Ha) was proposed. The Chi-square value
obtained and the
Chi-square table for the particular degrees of freedom (n-1) at 5% level of
significance is compared . If the obtained value is higher than the table value
H0 is rejected and the Ha is accepted. But if the observed values is less than
the table value H0 is accepted and the Ha is rejected.

REVIEW OF LITERATURE
DIMPLE CHEEK:
A dimple is a small natural indentation in the flesh on a part of the human
body, most notably in the cheek or on the chin. Dimples may be genetically
inherited and have been called a simple dominant trait; Dimples may be
caused by variations in the structure of the facial muscle known as
zygomaticus major. Specifically, the presence of a double or bifid
zygomaticus major muscle may explain the formation of cheek dimples. This
bifid variation of the muscle originates as a single structure from the As it
travels interiorly, it then divides with a superior bundle that inserts in the
typical position above the corner of the mouth. An inferior bundle inserts
below the corner of the mouth

WIDOWS PEAK;
Some people have a prominent V-shaped point at the front of their hairline, called
a widow's peak, while other people have a hairline that goes straight across.
Widows peak,is controlled by one gene with two alleles, and the allele for
widow's peak is dominant over the allele for straight hairline.
David W. Smith and M. Michael Cohen hypothesized the widow's peak hairline to be
an anomaly that results from a lower-than-usual point of intersection of the bilateral
periorbital fields of hair-growth suppression on the forehead. This can occur because
the periorbital fields of hair-growth suppression are smaller than usual, or because
they are more widely spaced.

Smith and Cohen (1973) looked at photographs of male medical students and
concluded that 32 out of 1039 (3%) had a "slight but noticeable" widow's peak
and one had a "more distinctive and obvious" widow's peak..
Nusbaum and Fuentefria (2009) must have used a very loose definition of
widow's peak if they counted 81% of women as having one. In addition to
ambiguities about who does or does not have a widow's peak, there is the
problem of age. The hairline of many men recedes over time, and it often recedes
more slowly in the middle. It could therefore be difficult to distinguish between a
receding hairline and a true widow's peak in adult men.

DIMPLE CHEEK:
A dimple is a small natural indentation in the flesh on a part of the human
body, most notably in the cheek or on the chin. Dimples may be genetically
inherited and have been called a simple dominant trait; Dimples may be
caused by variations in the structure of the facial muscle known as
zygomaticus major. Specifically, the presence of a double or bifid
zygomaticus major muscle may explain the formation of cheek dimples. This
bifid variation of the muscle originates as a single structure from the As it
travels interiorly, it then divides with a superior bundle that inserts in the
typical position above the corner of the mouth. An inferior bundle inserts
below the corner of the mouth.

Hypertrichosis ;
In some individuals ,with age , coarse hairs may appear on the lower portions of
the helix. .
This type of hair is known as hairy pinna. Hypertrichosis is a Y linkage or
holandric inheritance . Since the only humans who have a Y chromosome are
males , Y-linked traits are passed only from father to son..

Dronamraju(1964) explained that this trait consists of long hair growing from
the helix of pinna. Abbie (1965) discovered that hairy pinna was most
common in western and southern aborigines than in those of North and North
East India .
Bharadwaj. D.K.(1977) made a study on the hairy patterns of pinna among the
Central Indians , The study was done on a certain number of males and
females of South India who were normal and did not show any endocrine
disturbance

PLAT
ES

HAIR PATTERN

Presence of curly hair (Dominant-CC)

Straight hair type (Recessive- cc)

DIMPLE CHEEKS

Presence of dimple cheeks (Dominant-DD)

Absence of dimple cheek(Recessive-dd)

WIDOWS PEAK

Presence of widows peak (Dominant-WW)

Absence of widows peak (Recessive-ww)

HYPERTRICHOSIS

Presence of hairy pinna

Absence of hairy pinna

OBSERVATION

POPULATION

No of Individuals
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16

NUMBER CHART FOR MALES

Tally Total

1
1
1
11111

1111 1111 1

POPULATION NUMBER CHART FOR FEMALES

No of Individuals
1
2
3
4
5
6
7
8

Tally Total

1111 1111 1111

1
1
1111 1111 1

ANALYSIS OF RESULTS
DATA ANALYSIS :
Types of trait

Name of trait

Autosomal
traits

Sex
trait

Dimple Cheeks

No.
of
individuals
with
dominant
trait
25

No.
of Total no. of
individuals
individuals
with
recessive
trait
25
50

Widows peak
Hair pattern

2
6

48
44

50
50

linked Hypertrichosis

20

20

Trait: Dimple Cheeks

Genotypic frequencies of homozygous dominant trait: p2
p2 = number of individual with dominant trait
total number of individuals
=25/50
=0.5
Gene frequency for dominant trait : p

p = p2
p = 0.5 =0.7071
According to Hardy Weinberg equation,
p+q=1

q = 1 p

q = 0.292
Genotypic frequency of homozygous recessive trait : q2
q2 = ( 0.292)2

=0.0852

Genotypic frequency of heterozygous dominant trait : 2pq

2pq =2*0.7071*0.292=0.41294
Trait

Dimple Cheeks
Dominant (p)
Recessive (q)
Gene frequency
0.7071
0.292
Genotypic frequency p2
2pq
q2
0.5
0.41294
0.0852
STATISTICAL ANALYSIS
Null hypothesis : The genotypic frequencies obtained follows the Hardy
Weinberg equilibrium.
Alternate hypothesis: The genotypic frequencies obtained does not follow
Hardy Weinberg equilibrium.
Level of significance : 5%
Degree of freedom : 1
Calculation of expected frequency
p2 = N = * 50

=12.5

2pq = N = * 50

=25

q2 = N = * 50

=12.5

Genotype

(O)

Dominant
phenotype
Recessive
phenotype

(E)

25

37.5

D =(Od2
E)
-12.5
156.25

25

12.5

12.5

156.25

d2/E
4.166
12.5

2 = d2 /E =16.666
Table value at 5% level of significance =3.841
RESULT:
Since the 2 value(16.666) is greater than the 2 table value (3.841) at 5%
level of significance so we reject the null hypothesis and accept the alternate
hypothesis

Trait: Widows Peak

Genotypic frequencies of homozygous dominant trait: p2
p2 = number of individual with dominant trait
total number of individuals
=2/50
=0.04
Gene frequency for dominant trait : p
p = p2
p = 0.2
According to Hardy Weinberg equation,

p+q=1

q = 1 p

q = 0.8
Genotypic frequency of homozygous recessive trait : q2
q2 =(0.8) 2

=0.64

Genotypic frequency of heterozygous dominant trait : 2pq

2pq = 2*0.8*0.64
2pq =1.024

Widows peak
Trait
Gene frequency
Genotypic frequency

Dominant (p)
0.2
p2
2pq
0.04
1.024

Recessive (q)
0.8
q2
0.64

STATISTICAL ANALYSIS
Null hypothesis : The genotypic frequencies obtained follows the Hardy
Weinberg equilibrium.
Alternate hypothesis: The genotypic frequencies obtained does not follow
Hardy Weinberg equilibrium.
Level of significance : 5%
Degree of freedom : 1
Calculation of expected frequency
p2 = N = *50

=12.5

2pq = N = *50

=25

q2 = N = *50

=12.5

Genotype

(O)

Dominant
phenotype
Recessive
phenotype

(E)

37.5

D =(Od2
E)
-35.5
1260.25

48

12.5

35.5

1260.25

d2/E
33.60
100.82

2 = d2 /E =104.42
Table value at 5% level of significance =3.841
RESULT: Since the 2 value(104.42) is greater than the 2 table value (3.841)
at 5% level of significance so we reject the null hypothesis and accept the
alternate hypothesis.

Trait: Hair Pattern

Genotypic frequencies of homozygous dominant trait: p2
p2 = number of individual with dominant trait
total number of individuals
=6/50

=0.12
Gene frequency for dominant trait : p
p = p2
p = 0.346
According to Hardy Weinberg equation,
p+q=1

q = 1 p

q = 0.653
Genotypic frequency of homozygous recessive trait : q2
q2 =(0.653)2

=0.4264

Genotypic frequency of heterozygous dominant trait : 2pq

2pq =

2*0.346*0.4264

Trait

2pq =0.2950
Widows peak

Gene frequency
Genotypic frequency

Dominant (p)
0.346
p2
2pq
0.12
0.2950

Recessive (q)
0.653
q2
0.4264

STATISTICAL ANALYSIS
Dimple Cheeks
Null hypothesis : The genotypic frequencies obtained follows the Hardy
Weinberg equilibrium.

Alternate hypothesis: The genotypic frequencies obtained does not follow

Hardy Weinberg equilibrium.
Level of significance : 5%
Degree of freedom : 1

Calculation of expected frequency

p2 = N = *50

=12.5

2pq = N = * 50

=25

q2 = N = * 50

=12.5

Genotype

(O)

Dominant
phenotype
Recessive
phenotype

(E)

37.5

D =(Od2
E)
-31.5
992.25

44

12.5

31.5

992.25

d2/E
26.46
79.38

2 = d2 /E =105.84
Table value at 5% level of significance =3.841
RESULT:
Since the 2 value(105.84) is greater than the 2 table value (3.841) at 5%
level of significance so we reject the null hypothesis. and accept the alternate
hypothesis.

Trait: Hypertrichosis:
Genotypic frequencies of homozygous dominant trait: p2
p2 = number of individual with dominant trait
total number of individuals
=0/50
=0
Gene frequency for dominant trait : p
p = p2
p= 0
According to Hardy Weinberg equation,
p+q=1

q = 1 p

q=1
Genotypic frequency of homozygous recessive trait : q2
q2 = 1
Genotypic frequency of heterozygous dominant trait : 2pq
2pq = 0
Trait
Gene frequency
Genotypic frequency

Hypertrichosis
Dominant (p)
0
p2
2pq
0
0

Recessive (q)
1
q2
1

STATISTICAL ANALYSIS
Null hypothesis : The genotypic frequencies obtained follows the Hardy
Weinberg equilibrium.
Alternate hypothesis: The genotypic frequencies obtained does not follow
Hardy Weinberg equilibrium.
Level of significance : 5%
Degree of freedom : 1
Calculation of expected frequency
p2 = N = *50

=12.5

2pq = N = *50

=25

q2 = N = *50

=12.5

Genotype

(O)

Dominant
phenotype
Recessive
phenotype

(E)

37.5

D =(Od2
E)
37.5
1406.25

50

12.5

37.5

2 = d2 /E =150
Table value at 5% level of significance =3.841

1406.25

d2/E
37.5
112.5

RESULT: Since the 2 value(150) is greater than the 2 table value (3.841) at
5% level of significance so we reject the null hypothesis and accept the
alternate hypothesis.

DISCUSSION AND CONCLUSION

This project on gene and genotypic frequency of alleles controlling autosomal

and sexlinked. Mendelian traits was surveyed on the population of 50. The population
was selected randomly. The students were observed for the presence of
autosomal traits (curly hair, hitchhikers thumb, widows peak) and sex-linked
trait (hypertrichosis).
In the survey it was noticed that,
2 % of the surveyed population were dominant to the trait Widows peak and
48 % were recessive to the trait.

6 % of the surveyed population were dominant to the trait hair pattern

(curly hair)and 44 % were recessive to the trait.
25 % of the surveyed population were dominant to the trait Dimple cheek
and 25 % were recessive to the trait.
Hypertrichosis is a Y-linked trait and found only in the males. In the survey it
was observed that the trait was absent for the surveyed male population . This
may be due to the age factor i.e. in males at or near 18-25 years of age do not
develop hairy pinna .
None of the traits obey the Hardy-Weinberg Equilibrium. This is become the
traits surveyed do not need the conditions of Hardy-Weinberg Law.
Deviation of the Hardy-Weinberg Equilibrium may be due to the following
reasons

Natural selection

Mutation

Random drift

Migration from other places

Only 50 students were surveyed which is a small population.

REFERENCE

AnandCS, Bhardwaj VK, Chaurasaia BD(2007): Hair pattern of the pinna

among South Indians.IntJ Dermatol46 (1):72-76.

AtiyaKhanum.Irfan A Khan (1994):APPENDIX 4: The uni-square

distribution. 1st Edn, Fundamentals of Bio-statistics. Hyderabad Ukaaz

Publications, Vol 1 pg488.

DeoramRaju KR, Haldane JBS (1962): Inheritance of hairy pinna. Am J

Hum Genet;14:102-103.

Ganres E E (1952): Tongue rolling and tongue folding and other

hereditary movements of the tongueHered 43:221-225

Gerald J Stine (1989):Population Genetics: Genotype and Gene

frequency. The new human genetics. Dabugne WMC Brann Publishers.pg

393-397.

Verma P.S;Agarwal V.K.(1974):Population Genetics and Evolution 14th

Edn Cell Biology, Genetics, Molecular Biology, Evolution and Ecology New
Delhi S Chand Publishers, Vol 1,pg 79-92.

Singh BD (1990): The Laws of Mendel:Mendel and his predecessors

2nd Edn.
Fundamentals of Genetics New Delhi Kalyani Publishers, Vol
1, pg161-179.

Martin NG(1974): No evidence for a genetic basis of tongue rolling as

hand clasping.
J.Hered.66:179-180.

Ricki Lewis (1997): Population Genetic: Allele frequencies stay constant.

5th Edn Human Genetics-Concepts and Applications. New York. McGraw Hill
Companies Pg 263-272.

Kamalan A, Thambraiah AS(1990): Genetics of hairy ears in South

Indians. Chin and xptldermatol 15(3):192-194.

INTRODUCTION

METHODOLOGY