POPULATION GENETICS
Population genetics: is the genetics of a population dealing
principally with gene and genotype frequencies through
time and space.
Population is a collection of individuals or data.
It may be static or dynamic.
A static population is one that existed at a particular time only.
A dynamic population is one that existed over time and is
maintained from generation to generation through procreation of
new individuals, i.e. progeny.
GENETIC PROPERTIES OF POPULATION
i) Gene frequency
• A character in an individual that passes on from
generation to generation due to breeding of the
parents is controlled by genes.
• The distribution of genes in different individual of
the population is one of the properties of a
population and is expressed as ‘Gene frequency’.
ESTIMATION OF ALLELE FREQUENCIES
•
HARDY - WEINBERG LAW
• The gene and genotype frequencies remain
constant from generation to generation in the
absence of mutation, migration and selection.
• The population then is said to be in Hardy-
Weinberg equilibrium.
HWE: The relationship between allelic and
genotypic frequencies in an idealized
population after a single generation of
random mating.
DERIVATIVES OF LAW
A large population that is not in equilibrium attains
equilibrium after one generation of random mating,
provided mutation, migration and selection are absent.
The genotype frequency of the progeny is fully
determined by the gene frequency of the parents in
an equilibrium population and the gene frequency is
obtained by taking square-root of the homozygote
frequency.
The frequency of the heterozygotes in an equilibrium
population is never more than 50 per cent.
FORCES CHANGING GENE FREQUENCY IN POPULATION
The magnitudes of change in the gene and genotype
frequency are as follows.
• Non-random mating:
1)Inbreeding
2)Mutation
3)Migration
4)Selection
5)Small populations
6)Genetic drift
INBREEDING
• Mating among close relatives will lead to a surplus of
homozygotes.
• Assortative mating – If individuals prefer to mate with other
individuals with similar genotypes this may lead to a surplus of
homozygotes.
• Disassortative mating - If individuals prefer to
mate with other individuals with different genotypes,
then this may lead to a surplus of heterozygotes.
• Wahlund effect – This denotes a surplus of
homozygotes due to the presence of individuals
that represent different populations and do not inter
breed.
MUTATION
It is a rare event in nature.
It can occur in both the directions, i.e. forward and
backward.
If it is recurrent, it can change the gene and
genotype frequency of the population.
If mutation occurs continuously in a gene it is called
recurrent mutation.
Some mutations increase fitness or lead to the
evolution of new species by creating new or
improved phenotypes.
Some mutations lower fitness.
Many mutant alleles produce phenotypes that are
so abnormal that they either cause death or reduce
viability severely.
Other cause only small reductions in viability.
MIGRATION
• The change in gene frequency due to migration depends on
the preparation of individuals that enter into the population
and their gene frequency.
• The change in gene frequency due to migration
q = m (qm-q)
q- initial gene frequency of the population
qm-gene frequency in the immigrants and
‘m’ is the proportion of immigrants entering into the
population
SELECTION
• It is defined as the non-random differential
propagation of the genotypes. In other words.
• Selection acts on the phenotype of the next
generation and is considered to select in favor by
nature.
• One who contributes the highest number of progeny
is called as the fittest individual.
• Has highest fitness (F=1).
• The change in gene frequency due to selection
depends on the coefficient of selection or the degree
of disadvantage of the phenotype and its frequency in
the population.
SMALL POPULATIONS
In a large population the gene frequencies are inherently
stable in the absence of mutation, migration and selection.
The gametes that transmit genes to the next generation
carry a sample of genes in the parent generation and, if
the sample is not large, the frequencies are liable to
change can be predicted, the direction of change cannot
be predicted.
This results in dispersion of gene frequencies and is
called the dispersive process (random genetic drift).
GENETIC DRIFT
• It is a phenomenon that leads to a random changes in the
gene frequency in a founder population, which may not carry
some alleles due to sampling error.
• Genetic drift leads to loss or fixation of alleles within
populations.
• Genetic drift can irreversibly alter gene frequencies and
eliminates alleles, which can decrease a populations ability
to survive or to adapt to an altered environment, and it can
preclude future selection.
CONSEQUENCES OF RANDOM GENETIC DRIFT
• The random change in gene frequency found in small
populations from generation to generation is called as
‘random genetic drift’.
• Random drift occurring independently in different sub-
populations possess significantly different gene and
genotype frequencies. Uniformity within sub-populations.
• Increased homozygosity
Introduction
Population
Contents
Gene pool
Gene frequency
Genotype frequency
Hardy-Weinberg‟s law
Examples
Salient features
Destabilizing forces
Significance
Conclusion
References
INTRODU
CTION
The rediscovery of Mendel‟s work in the 1900 began a 30-year effort to
reconcile Mendel‟s concept of genes and alleles with the theory of evolution.
Alfred R. Wallace and Charles Darwin first identified natural selection as the
mechanism of evolution in the mid 19th century but had no accurate model to
depict the mechanism responsible for this process.
Biologists later realized that the phenotypic traits in a population is linked to
the relative abundance of the alleles influencing those traits.
Population genetics then came into the spotlight which started the study of
genetic variation in a population and how it changes over time.
Experiments are done to collect data that represent the allele frequencies in a
normal population and those of in a population acted upon by the
evolutionary forces.
POPULA
TION
A population is a group of sexually interbreeding individuals
present in a given geographical area.
Transmission of genes occur in accordance with Mendelian laws.
A population has somewhat similar genetic constitution and
gene alignment except for some uniqueness.
It has a given gene pool which is shared by all of them.
Free gene flow among the individuals takes place.
Each member has equal chance of
mating with any other member of
opposite sex.
GENE POOL
It is the sum total of genes present in a given population.
These genes are transferred to the next generation.
Study of gene pool of a population tells us about
• Total number of genes
• Kinds and varieties of genes
• Proportion
• Distribution
Maintains its integrity as long as there is no interbreeding.
Tries to maintain its genetic equilibrium.
Size of a gene pool depends on the number of genes and the
number of individuals carrying these genes.
GENE FREQUENCY
It refers to the proportion of an allele in the gene pool of a population as compared with other genes at the same
locus.
It can be calculated by dividing the number of a particular allele in question with the total number of alleles
present on that locus in the population.
For a gene with 2 alleles say A and a has the following proportion of contribution.
In a population
• N = total number of individuals in the population.
• D = number of homozygous dominants
• H= number of heterozygous individuals
• R = number of homozygous recessives
Calculating gene frequency in a given population :
• Total number of individuals = N
• Total number of alleles = 2N
• No. of homozygous dominants = D
• No. of recessive homozygous = R
• No. of hetero zygotes = H
• Total no. of dominant alleles = 2D+H
• Total no. of recessive alleles = 2R+H
• Frequency of dominant gene „A‟ = 2D+H/2N
• Frequency of recessive allele „a‟ = 2R+H/2N
GENOTYPE
FREQUENCY
It is the total number of one kind of individuals from a population all
of which exhibit similar character with respect to the locus under
consideration.
It can be calculated by dividing the number of individuals with that
genotype by the total number of individuals in the population.
Naturally, Three kinds of individuals occur in the population :
Homozygous dominant
Heterozygous and
Homozygous recessive
Calculation of genotype frequency :
• Allele frequency of „A‟ allele = p
• Allele frequency of „a‟ allele = q
• Genotype frequency of AA = p2
• Genotype frequency of aa = q2
• Genotype frequency of Aa = 2pq
HARDY-WEINBERG’S LAW
OF
The EQUILIBRIUM
fundamental idea in calculating and generating the idea of
distribution of a gene in a population was offered by English man,
G.H Hardy and German man, W. Weinberg simultaneously in the year
1908.
It lead to the foundation of population genetics and of modern
evolutionary theory in the form of what we now call as Hardy-
Weinberg‟s law of equilibrium.
According to this law,“The relative frequencies of various kinds of
alleles in a large and randomly mating panmictic population tend to
remain constant from generation in the absence of certain
destabilizing forces.”
The relationship between gene frequency and genotype frequency can
be expressed as : (p+q)2= 1
where, p is the frequency of allele „A‟
q is the frequency of allele
„a‟
SALIENT FEATURES OF HARDY-
WEINBERG’S LAW
According to Hardy-Weinberg law, the gene and genotype frequencies
of each allele in a population remains at equilibrium generation after
generation, if it exhibits following attributes:
Random mating
Large population size
Bi-parental mode of reproduction
Homogenous age structure
Absence of evolutionary forces
No preferential mating
EXAMP
LES
HARDY-
WEINBERG’S
A natural biological population is dynamic which is at par as per
LAW
the theoretical static Hardy-Weinberg model of genetic
population.
Its gene equilibrium changes from one generation to the next
generation by the disruptive action of evolutionary forces.
Study of the effect of certain destabilizing forces was done by
R.A. Fischer, Sewall Wright and J.B.S. Haldane and thus the
dynamics of changing population was emphasized.
The evolutionary forces are those that change the gene pool of
the population and thus evolution takes place.
DESTABILIZING FORCES
Natural selection
Mutation
Genetic drift
Migration
Meiotic drive
NATURAL SELECTION
Natural selection as the guiding force of evolution was recognised by
Charles Darwin. But his concept was applicable to individuals rather than to
the populations.
It may be defined as the force which maintains consistent differences in the
contributions of various genotypes to the next generation.
According to Dobzhansky, it is the differential contribution of the alleles of a
gene to the gene pool of a population in the next generation.
It is the genotype which actually changes under the influence of
environment, variations caused by changes in the genes and in the
chromosomes which produce heritable variations in the organism and thus in
the population.
TYPES OF NATURAL SELECTION
Based on the different organisms and environment relationship,
following different kinds of natural selection have been
recognised:
• Stabilising
• Directional
• Disruptive
• Cyclic
MUTATION
It can be stated as any change in the normal nucleotide sequences of a gene.
It acts to create new alleles that changes the normal equilibrated gene pool
of a population.
It occurs at random i.e. without any regard for any possible benefit
or disadvantage to the organism.
To see the effect of any mutation that occurred in a population :
• The allele evaluated must produce a distinctive phenotype that can
be distinguished from a normal phenotype.
• The trait must be fully expressed.
• An identical phenotype must never be produced by a non genetic agents
such as drugs or chemical.
GENETIC
In small
DRIFT
populations, significant random fluctuations in
allele frequencies are possible through chance deviation.
The degree of fluctuation increases as the population size decreases.
This fluctuation due to chance is known as the genetic drift.
Genetic drift can arise due to :
• Founder effect : The genetic consequences seen when a population
originates from a small number of individuals.
• Bottleneck effect: It develops when a large population undergoes a
drastic but temporary reduction in numbers.
It occurs when the number of reproducing individuals in a population
is too small to ensure that all the alleles in the gene pool will be
passed on to the next generation in their existing frequencies.
Founder Effect
Bottleneck Effect
NONRANDOM
MATING
It changes the frequencies of genotypes in a given population.
Any one genotype has an equal probability of mating with any
other genotype in the population.
Subsequently, selection for or against certain genotypes has the
potential to affect the overall frequencies of the alleles they
contain.
Non random mating can take one of several forms:
Positive assortative mating : Similar genotypes are more likely
to mate than dissimilar ones.
Negative assortative mating : Dissimilar genotypes are more likely
to mate.
A species become divided into populations that are separated geographically.
MIGRATION
Migration occurs when individuals move between the populations.
For example :
• In a given species a given locus has 2 alleles, A and a.
• There are two populations of this species, one on the mainland and one on
an island.
• The frequency of A on the mainland is represented by pm and the frequency of
a on the island is pi .
• If there occurs migration from the mainland to the island , the frequency of A
in the next generation on the island is given by
pi = (1-m) pi + m pm
where m represents migrants from the mainland to the island.
SIGNIFICANCE OF HARDY
Describes a situation in which there is genetic equilibrium and
WEINBERG’S LAW
no evolution.
Provides a theoretical base for measuring evolutionary change.
Conserves gains made in the past.
Avoids too rapid changes.
Maintains heterozygosity in the population.
Prevents evolutionary progress.
No population is ideal as per the Mendelian laws. It undergoes
CONCLUSION
dynamic changes that alter the gene frequencies which
ultimately brings about a new and different gene pool for a
population.
These destabilizing forces add on or remove genes that changes the
allele frequencies that causes a new species or a new population to
be formed.