Paper No.

: 08 Human Population Genetics

Module : 13 Allelic Frequencies, Genotypic Frequencies and Hardy
Weinberg Law

Development Team
Prof. Anup Kumar Kapoor
Principal Investigator
Department of Anthropology, University of Delhi

Paper Coordinator Prof. Gautam K. Kshatriya

Department of Anthropology, University of Delhi

Content Writer Ms. Shalini SIngh and Prof. GK Kshatriya

Department of Anthropology, University of Delhi

Content Reviewer Prof. A.Paparao

Sri Venkateswara University, Tirupati, Andhra Pradesh

Human Population Genetics

Anthropology
Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 Description of Module

Subject Name Anthropology

Paper Name 08 Human Population Genetics

Module Name/Title Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law

Module Id 13

Human Population Genetics

Anthropology
Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 LEARNING OBJECTIVES:
 It aims to understand how genotypic and allelic frequencies affect the principles and reproduction
in Mendelian population.
 It aims to understand the segregation of alleles in gamete formation and combination of allele
influencing the gene pool
 It aims to understand the mathematical model of Hardy Weinberg equilibrium.
 It aims to understand the factors affecting the allelic frequency.

TABLE OF CONTENTS-
1. Introduction
2. Genotypic and allelic frequency
3. Calculating allelic frequency
4. Hardy Weinberg equilibrium
5. Genotypic frequencies at hardy Weinberg Equilibrium
6. Implications of Hardy Weinberg Law
7. Extension of Hardy Weinberg Equilibrium
8. Validity for Hardy Weinberg Equilibrium
9. Assuming hardy–Weinberg to test alternative models of inheritance
10. Factors affecting the Allele Frequency

Human Population Genetics

Anthropology
Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 Introduction:
Population genetics is the field of biology that studies the changes in the genetic composition of
biological population that result from the operation of various factors, including natural selection and
the various processes shaping its gene pool. A population evolves through changes in its gene pool;
therefore, population genetics is also the study of evolution. There is a quiet evident contribution of
mendelian genetics, chromosomal abnormalities and inheritance pattern to the medical practice where
the disorders are analysed by physicians working with patients and families. Genetic Polymorphisms
are maintained at the species level so that individuals can survive, more inclination is seen towards the
homozygotes as they allow species to survive. Before the medical technicalities, population lacking
sickle cell anaemia trait could not survive in the malarial regions of West Africa. The incidence of
some human diseases like sickle cell anaemia, cystic fibrosis, Tay-Sachs disease, thalasemmia are
affected by environmental factors which cause change in the gene frequency in large population which
in turn causes gives some advantage to the heterozygotes carrying deleterious allele. The goals of
Population geneticists are pursued by formulating mathematical models of gene frequency dynamics,
extracting conclusions to study genetic variation in actual populations, and testing the conclusions
against empirical data. Just for instance asthma suffers were in a minority among 15 ancestors , eight
males and seven females in an island named Tristan Da Cuna in S. Atlantic roughly half way between
Cape town & Buenos Aries but now the current population is 297. Here 23% of people are asthmatic
whereas 50% were partially asthmatic. This illustrated another problem of small populations and
population experienced founder effect and genetic drift were the asthma suffers reproduced more
offspring‘s than average. As a result where populations stayed small, even mildly deleterious genes
lead to ―drift which lead to fixation of genes‖, here the normal, beneficial gene going extinct.
Genotypic and allelic frequencies
An obvious and persuasive feature of life is variability. Variability can seen in a group of students as
no two students in the class are similar in a typical college class, the members of which vary in eye
colour, hair colour, skin pigmentation, height, weight, facial features, blood type and susceptibility to
numerous diseases and disorders. Humans are unique in their extensive variability and much of this
phenotypic variation is hereditary. Recognition by this phenotypic variation and its extent to to
potentially adapt to environmental change led Charles Darwin to deduce the idea of evolution through
natural selection in Galapagos Island. In fact, even more genetic variation exists in population than is
visible in the phenotype. Much variation exists at the molecular level owing, in part, to the redundancy
of the genetic code, which allows different codons to specify the same amino acid. Thus two members
of a population can produce the same protein even if their DNA sequence are different. An important,
but frequently misunderstood, tool used in population genetics is the mathematical model where they
are simplified representation of a process and effects between the factors are understood.

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Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 Calculating genotypic frequencies:
A frequency is defined as a proportion or a percentage, usually expressed as a decimal fraction. For
example, if 20% of the alleles at a particular locus in a population are A, we would say that the
frequency of the A allele in the population is 0.20. In a large population, a sample of frequencies can
be calculated for this sample. The genotypic and allelic frequency of the sample are then used to
represent the gene pool of the population. The genotypic frequencies are calculated by simply adding
up the number of individuals possessing the genotype and dividing it by the total number of individuals
in the sample (N). Thus, for the locus with three genotypes AA, Aa, aa, the frequency (f) of each
genotype is

F(AA)=number of AA individuals
N
F(Aa)=number of Aa individuals
N
F(aa)=number of aa individuals
N

The sum of all the genotypic frequencies is always equals 1.

The gene pool of a population can also be described in terms of the allele frequencies. There are
always fewer alleles than genotypes; so the gene pool of a population can be described in fewer terms
when the allele frequencies are used. In sexually reproducing population, the genotypes are only
temporary assemblages of the allele as genotypes break down in each generation when individual
alleles are passed to the next generation through gametes and make up the gene pool.
Allelic frequencies thus can be calculated from (1) the numbers or (2) the frequencies of the genotypes.
To calculate the allelic frequency from the number of genotypes, we count the number of copies of a
particular allele present in a sample and divide by the total number of all alleles in the sample.

Frequency of an allele= number of copies of the allele

Number of copies of all alleles at one locus

For a locus with only two alleles ( A and a), the frequencies of the alleles are usually represented by
the symbols p and , and can be calculated as follows:
P=f(A)=2nAA+nAa
2N
P=f(a)=2naa+nAa
2N

Human Population Genetics

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Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 Where nAA, nAa and naa represent the numbers of Aa, Aa . aa individuals , and N represents the total
number of individuals in the sample. We divide by 2N because each diploid individual has two alleles
at a locus. The sum of the allelic frequency from the genotypic frequencies, we add the frequency of
the homozygote for each allele to half the frequency of the heterozygote‘s alleles are of each type

p= f(A)= f(AA)+1/2f(Aa)

p= f(a)= f(aa)+1/2f(Aa)
we obtain the same values of p and q whether we calculate the allelic frequencies from the numbers of
genotypes or from the genotypic frequency.

Hardy Weinberg Equilibrium

The Hardy-Weinberg principle was discovered independently by both G.H. Hardy and W. Weinberg in
1908. It is one of the simplest and most important principles in population genetics. The law is a
mathematical model that evaluates the effects of reproduction and Mendelian population principles on
allelic and genotypic frequencies. This relationship is of basic importance to population genetics
because it enables us to describe the genetic content in diploid populations in terms of allele not and
not in terms of genotype frequencies. With recent documentation of loci with many alleles or genes or
genetic regions with haplotype, this principle has become very important.
The rule has three aspects.
I. The allelic frequencies at autosomal loci in equilibrium in a population will not change from
one generation to the next.
II. The genotypic frequencies of the population are predicted by the allelic frequency.
III. The equilibrium is neutral and will be re-established within one generation of random mating at
the new allelic frequencies.

The Hardy Weinberg Equilibrium makes several simplifying assumptions about the population and
provides key predictions if these assumptions are met.
Assumptions: If the population is large, random mating, and not affected by mutation, natural
selection, then:
Predictions: The genotypic frequencies stabilize after one generation in the proportions p2 (the
frequency of AA) , 2pq ( the frequency of Aa), q2 ( the frequency of aa), where p equals the frequency
of allele A and q equals the frequency of allele a.
A large population of sexually reproducing organisms is considered where the organisms are assumed
to be diploids (two copies of each chromosome, one received from each parent). The gametes produced

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Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 by them are haploid (only one of each chromosome pair). Two haploid gametes fuse to form a diploid
zygote during sexual fusion and then it grows and develops into an adult organism. For an autosomal
locus with two alleles there are two possible alleles, A1 and A2.Organisms with
the A1A1 and A2A2 genotypes are called homozygote; those with the A1A2 genotype are heterozygote.
The relative frequencies, of the three genotypes in the overall population may be denoted
as f(A1A1), f(A1A2) and f(A2A2) respectively, where f(A1A1) + f(A1A2) + f(A2A2) = 1 and are same for
both males and females. The relative frequencies of the A and B alleles in the population may be
denoted p and q, where p + q = 1. For a locus with five alleles, there is threshold between five allele
frequencies and 15 genotypic frequencies. This simplification is particularly useful for a locus with two
alleles because it allows us to follow changes in the frequency of one allele instead of the frequency of
two genotypes.
An important graphical tool to depict genotype and allele frequencies simultaneously for a single locus
with two alleles is the De Finetti. These diagrams are helpful when we examine how population
genetic processes dictate allele and genotype frequencies. In both the graph it is apparent that
heterozygotes are most frequent when frequency of the two alleles is equal to 0.5.It can be easily
deduced from the diagram that when an allele is rare, the corresponding homozygote genotype is even
rarer since the genotype frequency is the square of the allele frequency.

Figure: Hardy-weinberg expected genotype frequencies for AA,Aa, aa genotypes( y

axis) for any given value of the allele frequency ( x axis). Note that the value of the
allele frequency not graphed can be determined by q= 1-p.

Human Population Genetics

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Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 Source:http://www.nature.com/scitable/content/ne0000/ne0000/ne0000/ne0000/1333861
5/andrews_figure4_ksm.jpg
Random mating means the absence of a genotypic correlation between mating partners, i.e. the
probability that a given organism mates with an A1A1 partner, for example, does not depend on the
organism's own genotype, and similarly for the probability of mating with a partner of one of the other
two types.
The Hardy Weinberg law indicates that, when the assumptions are met, reproduction alone does not
alter allelic or genotypic frequencies and the allele frequencies determine the frequencies of genotypes.
Genotypic frequencies at hardy Weinberg equilibrium
That random mating will lead the genotypes to be in the above proportions (so-called Hardy-
Weinberg proportions) is a consequence of Mendel's law of segregation. To see this, note that random
mating is in effect equivalent to offspring being formed by randomly picking pairs of gametes from a
large ‗gamete pool‘ and fusing them into a zygote. The gamete pool contains all the successful gametes
of the parent organisms. Since we are assuming the absence of selection, all parents contribute equal
numbers of gametes to the pool. By the law of segregation, an A1A2heterozygote produces gametes
bearing the A1 and A2 alleles in equal proportion. Therefore, the relative frequencies of
the A and B alleles in the gamete pool will be the same as in the parental population,
namely p and q respectively.
The gamete pool is very large, when we pick pairs of gametes from the pool at random, we will get the
ordered genotypic pairs {A1A1}, {A1A2}, {A2A1}, {A2A2} in the proportions p2:pq:qp:q2. But order does
not matter, so we can regard the {A1A2} and {A2A1} pairs as equivalent, giving the Hardy-Weinberg
proportions for the unordered offspring genotypes. Importantly, whatever the initial genotypic
proportions, random mating will automatically produce offspring in Hardy-Weinberg proportions (for
one-locus genotypes). So if generations are non-overlapping, i.e. parents die as soon as they have
reproduced, just one round of random mating is needed to bring about Hardy-Weinberg proportions in
the whole population; if generations overlap, more than one round of random mating is needed. Once
Hardy-Weinberg proportions have been achieved, they will be maintained in subsequent generations so
long as the population continues to mate at random and is unaffected by evolutionary forces such as
selection, mutation etc. The population is then said to be in Hardy-Weinberg equilibrium—meaning
that the genotypic proportions are constant from generation to generation
The relationship well know for Hardy Weinberg equation is p2+2pq+q2=1, where p and q are allele
frequencies for a genetic locus with two alleles. In most organisms, random union of gametes is quite
unlikely because it is the parental genotypes that pair and then produce gametes that unite. Therefore,
let us consider the situation in which reproductive individuals randomly pair. If we consider a diploid
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 organism , there are three possible genotypes in the population- A1A1, A1A2, A2A2-that are present
present in frequencies in the P,H and Q respectively(P+H+Q=1). Because all of the alleles in the two
homozygotes A1A1 and A2A2 are A1 and A2 respectively, and half the alleles in the heterozygote are A1
and half are A2, the allele frequencies in terms of the genotype frequencies are then:
p= P+1/2H
q= Q+1/2H.
Let us assume that there is random mating in the population, which yields nine possible combinations
of mating between the male and female genotype as given in table below.
TABLE1-The frequency of different mating types for two alleles at an autosomal locus when there is
random mating.
Male genotypes Female genotypes( frequencies )
frequencies
A1A1(P) A1A2 (H) A2A2(Q)

A1A1(P) P PH PQ

A1A2(H) PH H HQ

A2A2(Q) PQ HQ Q

These six mating types, their frequencies and the expected frequencies of their offspring genotypes
assuming that gametes segregate in Mendelian proportions. For example, the mating A1A1× A1A1
produces 1/2A1A1 and 1/2A1A2 and so on.
TABLE 2-Demonstration of the Hardy Weinberg Principle Assuming Random Mating In the Parents
and Mendelian Segregation To Produce The Progeny

Human Population Genetics

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Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
 PROGENY

MATING FREQUENCY A1A1 A1A2 A2A2

TYPE

A1A1× A1A1 P2 P2 - -

A1A1× A1A2 2PH PH PH -

A1A1× A2A2 2PQ - 2PQ -

A1A2× A1A2 H2 1/4H2 1/2H2 1/4H2

A1A1× A2A2 2HQ - HQ HQ

A2A2× A2A2 Q2 - - Q2

TOTAL 1 (P+1/2H)2 2(P+1/2H)(Q+1/2H)=2pq (Q+1/2H)2

The
Hardy Weinberg law holds true for any frequencies of A and a, as long as the frequencies add to 1 and
all the assumptions are evoked. A population in which the allele frequencies remain constant from
generation to generation and in which genotype frequencies can be predicted from the allele
frequencies can be predicted from the allele frequencies is said to be in a state of Hardy Weinberg
equilibrium for that locus. Genotype proportions may deviate from Hardy Weinberg expectations for
several different reasons. The most significant evolutionary factors are selection, inbreeding and gene
flow and thus it is often said that hardy Weinberg proportions are expected only in situations in which
there is no selection, random mating, and gene flow.
Implications of Hardy Weinberg law
When considering the genetic structure of a population, the populations maintaining the Hardy
Weinberg Equilibrium has several implications. A significant implication of the Hardy Weinberg
relationship is that the frequency of the dominant and recessive alleles will remain unchanged from one
generation to the next under given certain conditions.
IMPLICATION 1: a population cannot evolve if it meets the hardy Weinberg assumptions, as
evolution consists of changes in the allelic frequencies of a population. Therefore it can be concluded
that reproduction alone cannot alone bring evolution. Other evolutionary processes like natural
selection, migration, mutation are required for populations to evolve.
IMPLICATION 2: the genotypic frequencies are determined by the allelic frequencies for the
populations in hardy Weinberg equilibrium. Considering a locus with two alleles, the frequency
greatest for the heterozygote is when the allelic frequencies are between 0.33 and 0.66 and is maximum
when the allelic frequencies are 0.5. when the frequency of one allele is low, homozygotes for that
allele will be rare and will be present in heterozygote
IMPLICATION 3: In a single generation of random mating produces equilibrium frequencies of
p2,2pq and q2 and this fact doesn‘t proves that the population is free from natural selection‘

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 Extension of Hardy Weinberg law
The Hardy Weinberg principle is also applied to X- linked genes and to genes with multiple alleles. For
an X-linked gene such as the one that controls colour vision, the allele frequencies are estimated from
the frequencies of the genotype is males, and the frequencies of the genotypes in females are obtained
by hardy Weinberg principle to these estimated allele frequencies. In one generation, the genotypic
frequencies are at equilibrium when random mating is occurring. If the alleles are X linked and sexes
differ in allele frequency, the equilibrium frequencies are approached over several generations as males
receive their X chromosome from their mother only, whereas female receive an X chromosome from
both mother and father. For genes with multiple alleles, the Hardy Weinberg genotype proportions are
obtained by expanding a multinominal expression. To calculate the allelic frequencies from the number
of genotypes, we count up the number of copies of an allele by adding twice the number of
homozygotes to the number of heterozygotes that possess the allele and divide this sum by twice the
number of individuals in the sample.

Validity for Hardy Weinberg Equilibrium:

It is possible to establish whether a population is in Hardy Weinberg equilibrium for a particular trait.
Consider a system with two alleles A and a, with three resulting genotypes AA, Aa/aA, aa. Amongst
1000 selected at random, the following genotype distributions are observed.
AA 800
Aa/aA 185
Aa 15
From this data,
The frequency of the allele A (p) = [(2×800)+185]/2000=0.8925
The frequency of the allele a (q) = [185+(2×15]/2000=0.1075
Now consider what the expected genotype frequencies would be if the population is in Hardy-
Weinberg equilibrium and compare these with observed values.
Genotype observed Expected
AA 800 796.5(p2×N)
Aa/aA 185 192(2pq×N)
aa 15 11.5(q2×N)

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 With observed and expected genotypic frequencies we can compute statistical analysis with a ᵡ2 test to
confirm and determine probability that the difference between observed and expected value is matter of
chance. The chi-square is computed by the formula
Chi-square (ᵡ2 )= ∑(observed-expected)2
Expected
= (800-796.5) + (185-192)2 + (15-11.5)2
2

796.5 192 15
= (3.5)2 + (7)2 + (3.5)2
796.5 192 15
= 0.0153+ 0.2525+ 1.0652
= 1.3357
Thus p˃0.05,(p=3.84) the deviation of expected from the observed is not statistically significant.
We can always find allele frequency from Hardy Weinberg law, if we assume that the genotypes in the
population are found in Hardy Weinberg equilibrium.

Assuming Hardy–Weinberg to test alternative models of inheritance

Landsteiner observed the presence of four blood phenotypes A, B, AB, and O and it led to the
anticipation of a logical question was, ―What is the genetic basis of these four blood group
phenotypes?‖ We will test two hypothesis (or models) to explain the inheritance of ABO blood groups.
The approach to test the hypothesis uses the frequency of genotypes in a sample population. The two
hypotheses are as follows:
Blood type genotype Expected Genotype frequency Observed

O Aabb O fa2fb2 fO2 148

A A_bb AA `(1- fa2)fb2 fA2 + 2fAfO 212

B aaB_ BB fa2(1 - fb2) fB2 + 2fBfO 103

AB A_B_ AB (1- fa2)(1-fb2) 2fAfB 39

1) The four blood group phenotypes are explained by either two independent loci with two alleles
each with one allele completely dominant at each locus or a single locus with three alleles where
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 two of the alleles show no dominance with each other but both are completely dominant over a
third allele.
2) Hypothesis 2 requires A and B to have no dominance with each other but complete dominance
when paired with the O allele.
The O blood group under hypothesis 1 is the frequency of a homozygous genotype at two loci
(aa bb). The frequency of one homozygote is the square of the allele frequency: fa2 and fb2 if we use fx
to indicate the frequency of allele x. The genotype A_ means AA or Aa: in other words, any genotype
but aa. Since the frequencies of the three genotypes at one locus must sum to one, we can write fA_ as
1 − faa or 1 − fa2. Then the frequency of the A_ bb genotype is (1 − fa2)fb2

Table 3: expected genotype frequencies for the abo blood groups under the hypotheses.

Table 4: CALCULATION FOR THE EXPECTED NO. OF EACH GENOTYPES UNDER BOTH
THE HYPOTHESES.

Blood Observed Expected Observed -expected Observed-expected)2/

expected

O 148 502(0.707)2(0.847)2 -40.02 8.90

=180.02

A 212 502(0.500)(0.847)2 31.93 5.66

=180.07

B 103 502(0.707)2(0.282) 32.24 14.69

=70.76

AB 39 502(0.500)(0.282) -31.78 14.27

=70.78

Hypothesis 1 (fA = 0.293, fa = 0.707, fB = 0.153, fb = 0.847)

O 148 502(0.554)2 =154.07 -6.07 0.24

A 212 502((0.293)2 5.93 0.17

+2(0.293)(0.554))
=206.07

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 B 103 502((0.153)2 6.15 0.39
+2(0.153)(0.554))
=96.85

AB 39 502(2(0.293)(0.153)) -6.01 0.80

=45.01

Hypothesis 2 (fA = 0.293, fB = 0.153, fO = 0.554)

Chi-square analysis can be obtained on the basis of difference between the observed and expected
genotype. For hypothesis 1 chi-square is 43.52, whereas for hypothesis 2 chi- square =1.60. Clearly the
chi-square depicts that the hypothesis of three alleles at one locus is a better hypothesis than two alleles
each on two loci .Thus genotypic frequency sampled from a population was used to distinguish
between two hypotheses for the genetic basis of blood groups.
Factors affecting allele frequencies.
The Hardy Weinberg law indicates that there is no change in the allelic frequency of a population until
and unless evolutionary forces don‘t act on it. For an evolving population genetic variation must exists
within and between population with the help of processes like mutation, migration, natural selection
and genetic drift.
1. Mutation:

Mutation is one of the processes that generate genetic variation as new combination of existing
alleles arises through recombination in meiosis. Mutation can influence the rate at which one genetic
variant increases at the expense of another. Consider a locus with 25 diploid individuals, so the gene
pool of a population consists of 50 allelic copies. Let us assume two different alleles designated G 1
and G2 with frequencies p and q respectively.
G1 G2
45 5
p= 0.90 q=0.10
after mutation a G1 allele changes into a G2 allele
44 6
p= 0.88 q=0.12

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 As we can notice mutation has changed the allele frequency by increasing the frequency of G 2 from
0.10 to 0.12. If the copies of G1 continue to mutate to G2 , a time will come when the frequency of G1
decreases and G2 increases. The change in the G2 as a result of mutation equals the mutation rate times
the allelic frequency:
Δp= Δq
Only the effects of G1 G2 is called forward mutation and reverse mutation G2 G1. The rate of
forward as well as reverse mutation will be equal to u and v respectively. Whenever a reverse mutation
occurs , the frequency of G2 decreases and frequency of G1 increases. The overall change in allelic
frequency is a balance between the opposing forces of forward mutation and reverse mutation.
2. Migration

Migration is the influx of the genes from other populations and is one of the assumptions of Hardy
Weinberg law to take place which demands no gene pool. But for a natural population the overall
effect of migration can be observed as it prevents the genetic divergence between populations and
increases the genetic variance between populations. Let us consider a unidirectional model of
migration between two populations that differed in the frequency of allele a. The frequency of allele in
population 1 is assumed to be q1 and in population II is q11. In each generation a representative sample
migrates from population I to population II and reproduces by adding its gene. After migration,
population II consists of original residents and migrants. If the migrants make up proportion m of
population II, then the residents make up 1-m., because the residents originated in population II, the
frequency of allele a in this group is q11. After migration, the frequency of allele a in the merged
population II (q‘11) is
(q‘11)= q1(m)+q11(1-m)
Where q1(m) is the contribution to q made by the copies of allele a in the migrants and q11(1-m) is the
contribution to q made by copies of allele a in the residents. The change in the allele frequency is equal
to new allele frequency of allele a (q‘11) minus the original frequency of the allele (q11)
Δq11= q‘11-q11
The overall effect of migration, causes the gene pools of population to become more similar. For an
instance when q1-q11=0, there will be no further change in the allelic frequency of population II inspite
of the fact that migration continues.
3. Genetic drift

The Hardy Weinberg law assumes random mating in an infinitely large population, but no real
population is large and when the population size is limited, the gametes that unite in the second
generation carry some traces of alleles of the parental generation. Sampling error occurs when gametes

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 unite to produce progeny. Many organisms produce a large number of gametes to produce individual of
the next generation. Chance influences which alleles are present in this limited sample and further
sampling error might lead to changes in the allele frequencies. The deviations and directions of change
are random and unpredictable. The amount of change resulting from genetic drift is determined by two
parameters of allele frequency p and q and the population size N. In a large number of segregated
populations , each with N individual and allelic frequencies p and q. After one generation of random
mating , the genetic drift expressed in terms of variance on allelic frequencies among population is s P2=
pq/2N.
Sex ratio also influences the gene pool as half the genes come from males and the other half comes
from females. When one sex is present in low number, genetic drift increases because half the genes is
coming from small number of individuals. In population of 100 individuals, there are 10 males and 90
females, but only 10 males will be able to contribute half the genes to the next generation. Other
factors like fluctuations in population size and age structure of the population leads to genetic drift. As
a result of genetic drift, allelic frequencies in different populations diverged and became fixed for one
allele.

4. Natural selection

A final process that brings about changes in allelic frequencies is natural selection, the differential
selection takes place when individuals with adaptive traits produce more offspring, adaptive traits have
a genetic basis as the characters. A trait that provides a reproductive advantage and increases overtime,
enabling the population to become better suited to their environment. The effect of natural selection on
the gene pool of a population depends on the fitness value of the genotype of a population. Natural
selection changes allelic frequencies; the direction and magnitude which changes the selection
intensity. There six forms of natural selection which involves selection against the recessive allele,
selection against the dominant allele, selection against the heterozygote, selection against the
incompletely dominant allele, overdominance and underdominance. The result of selection depends on
the relative fitness of the genotypes. For instance the three genotypes are A1A1 , A1A2 and A2A2.and
their relative fitness of these genotypes is W11 , W12 and W22.the various types with their fitness
relation is illustrated in Table 5.
TABLE 5 Types of natural Selection
Type Fitness Relation Forms of selection Result

1 W11 = W12 ˃ W22 Directional selection against A1 increases, A2

recessive allele A2 decreases

2 W11 = W12 ˂ W22 Directional selection against A2 increases, A1

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 dominant allele A1 decreases

3 W11 ˃ W12 ˃ W22 Directional selection against A1 increases, A2

incompletely dominant allele A2 decreases

4 W11 ˂ W12 W˂22 Directional selection against A2 increases, A1

incompletely dominant allele A1 decreases

5 W11 ˂ W12 ˃ W22 Overdominance Heterozygote

advantage

6 W11 ˃ W12˂ W22 Underdominance Allelic frequency

will not change until
and unless they are at
equilibrium.

Thus the above discussed evolutionary force affects the real population by influencing the genetic
divergence between the populations .Natural selection increases the divergence between the
populations if different alleles are favoured in different direction and by favouring the same allele it
decreases the divergence. Mutation being a rare phenomenon always increases divergence between
populations. Migration and Genetic drift act in opposite directions, migration increases genetic
variation within populations, whereas genetic drift decreases genetic drift within populations. Mutation
increases both variance and divergence within the population. Natural selection tends to decrease the
allelic frequency eventually producing equilibrium.
Summary

 The gene pool of a population can be described in terms of allele frequency and genetic frequency.
In a sexually reproducing population are only temporary assemblages of the allele, the genotypes
break down each generation when the alleles are passed from one generation to another through
gametes in order to maintain continuity from one generation to another.
 The primary goal of population genetics is to understand the various processes that shape gene pool
i.e. collective group of alleles of all individuals in a population and the hardy Weinberg Law
evaluates the effect of reproduction on allelic and genotypic frequencies.
 The Hardy Weinberg law requires a population which is infinitely large, non random mating and is
not affected by natural selection, migration where the chance deviations from expected genotypes do
not hamper the allelic frequencies significantly.
 The Hardy Weinberg law can be used to estimate the allelic frequencies if the population is in hardy
Weinberg equilibrium for that locus. The frequency of the recessive allele will be equal to the
square root of the frequency of the recessive trait.
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Human Population Genetics

Anthropology
Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law
  Inbreeding increases the percentage of homozygous individuals homozygous in a population but
close inbreeding is harmful because it increases homozygosity and boosts the probability of
deleterious gene. The lethal recessive gene will continue to combine and produce harmful
homozygous lethal gene and decreases the. Although inbreeding is generally harmful, but a number
of inbreeding organisms are successful.
 The amount of change in allelic frequency due to mitigation between populations depends on the
difference in the allelic frequency and extent of migration. Migration has two effects in the first
effect it causes the gene pool to look exactly similar and in the second effect it shows how natural
selection and genetic drift leads to genetic difference between the populations.
 The direction and magnitude of change in the allelic frequency is dependent on the selection
intensity and direction of selection related to the dominance of alleles. Directional selection leads to
favouring of one allele over another. Overdominance leads to maintainence of both the alleles and in
under- dominance the heterozygote has lowest fitness compared to homozygotes.
 It is important to keep in mind that the real populations are effected by evolutionary forces and thus
evolution results from a combination of complex forces. The micro-evolutionary forces increasing
the genetic variation within and between populations is mutation and migration and the genetic
variation within and between the population is decreased by genetic drift and natural selection.

18

Human Population Genetics

Anthropology
Allelic Frequencies, Genotypic Frequencies and Hardy Weinberg Law