Population Genetics
Population- A population is a group of individuals of same species inhabiting a specified geographical area.
A large population usually is composed of smaller groups called as local populations or demes.
Gene pool- The complete set of genetic information contained within the members of a population is
called as gene pool. The gene pool includes all of the alleles of every gene in a population that is available
for transmission to next generation.
Population Genetics- The study of the frequencies of alleles and genotypes within a population and
change over time is known as population genetics. It is concerned how and why the frequencies of alleles
in a gene pool change over time. In population genetics we generally deal with Mendelian population i.e. a
natural, interbreeding unit of sexually reproducing organisms sharing a common gene pool.
Microevolution- A change in allele frequency within a single population over time is called as
microevolution. Evolutionary changes at this scale can be observed over short periods of time. Mutation,
Migration, genetic drift and natural selection are a few basic microevolutionary processes that can directly
affect allele frequencies in a population.
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Evolutionary forces that brings genetic variations-
1. Mutation (causes changes in alleles at nucleotide level)
2. Natural Selection
3. Gene Flow
4. Genetic drift
5. Inbreeding
6. Recombination (already aware)
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2. Natural Selection-
According to Charles Darwin natural selection is the most important mechanism by which evolution
occurs. Natural selection is the process through which populations of living organisms adapt and change.
This variation means that some individuals have traits better suited to the environment than others.
Natural selection is entirely dependent on environment. Individuals with adaptive traits (traits that give
them some advantage) are more likely to survive and reproduce. These individuals then pass the adaptive
traits on to their offspring. Over time, these advantageous traits become more common in the population.
Through this process of natural selection, favourable traits are transmitted through generations.
3. Gene Flow-
Gene flow is the transfer of alleles from one population to another population through migration.
Migration can cause some changes in the relative allele frequencies of the population either through
immigration (when new organisms join a population, bring new alleles or changing frequencies) or by
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emigration (when members of a population leave it, taking with them their genes). As a result of migration,
mixture is introduced. If we moved to another population and have a child, our genes have moved as well.
Therefore, migration is one of the factors to bring about changes in allele frequencies in a population.
4. Genetic Drift-
Genetic drift is random changes in allele frequencies in a population due to chance events. To be more
exact, genetic drift is change due to “sampling error” in selecting the alleles for the next generation from
the gene pool of the current generation. Its effect is more observed when population is small. Examples of
genetic drift Bottleneck effect and Founder effect.
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Bottleneck Effect Founder Effect
A new population is found by a
Reduction in population size small subset of the ancestral
population
Subpopulation caused when a Founder establishes a
natural disaster reduces the size of subpopulation as a new colony
an original larger population. drawn from a larger population.
Result of habit fragmentation and/or
Result of migration
over exploitation of the species
Genetic drift that occurs after a
Genetic drift that occurs after the
bottleneck event with a little genetic
start of new population.
variation
Can trace it back to one of the
Cannot define
original communities
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Bottleneck effect Founder effect
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5. Inbreeding-
The mating patterns of organisms in a population do not frequently exhibit random mating.
In case of consanguineous mating or inbreeding, mating between similar individuals occurs
more frequently. As a result, frequency of homozygotes increases compared to random mating.
Negative or unassociated mating occurs when individuals with unlike genotype or phenotype
mate. Both of these types of non-random mating, affect genotype frequencies.
Inbreeding tends to increase homozygosity and causes detrimental effects in inbreeding
population.
6. Recombination-
Recombination refers to the exchange of genetic information between homologous chromosomes
during meiosis.
The process of recombination generates new combinations of alleles and in a way increases
genetic diversity. Conversely, recombination can also disrupt the beneficial allele combinations,
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resulting in a drop in fitness known as “outbreeding depression”.
Alleles at closely placed loci generally do not segregate randomly during meiosis as
recombination between them occurs infrequently. By virtue of this, evolutionary force operating on
one locus affects the genetic diversity at the other locus.
An allele that rises to high frequency through positive selection at a linked locus is said to
be “Hitchhiking” while the reduction in the genetic diversity at loci linked to a recently fixed
allele is called “Selective Sweep”.
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Hardy-Weinberg Principle
G.H. Hardy (a British Mathematician) and W. Weinberg (a German physician) independently proposed
Hardy Weinberg Law which states that “the relative frequencies of various kinds of genes and alleles
in a large and randomly mating (panmictic) population tend to remain constant (or in equilibrium)
from one generation to another generation in the absence of evolutionary forces such as
mutation, selection and gene flow, etc.”. The principle can be represented in the form of equation and
this is represented by:
p2 + 2pq + q2 = 1
Where, p and q are the allele frequencies for a genetic locus with two alleles. This equation can be
used to measure whether the observed genotype frequencies in a population differ from the frequencies
predicted by the equation.
Assumptions of Hardy-Weinberg Principle-
The Hardy-Weinberg principle is based on several key assumptions that must hold true for the principle to
be applicable. Following are its major assumptions-
1. Random mating
2. No natural selection
3. No mutation
4. No migration
5. Large population size
If these assumptions are more or less met, then a population is expected to be in Hardy-Weinberg
equilibrium.
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Calculation of allelic frequencies-
Example: An autosomal gene has two alleles A and a in a small population of sexually reproducing
diploid organisms. In this small population, the genotypic distribution of “A” and “a” alleles are:
AA genotype = 114
Aa genotype = 76
Aa genotype = 10
As homozygous have two given allele and heterozygous have only one and since the total number of
alleles is twice the number of individuals (each individual carries two alleles), we can calculate allelic
frequencies in the following manner.
Frequency of A allele = Number of A alleles
Total number of alleles
= (2 x number of AA homozygote) + (number of Aa heterozygote)
(2 x total number of individuals)
The expression ‘frequency of’ can be shortened to f(), so frequency of A allele will be written as f(A).
Then, f(A)= p = 2(114) + 76 = 304 = 0.76 and f(a)= q = 2(10) + 76 = 96 = 0.24
2(200) 400 2(200) 400
Alternatively, because frequencies of two alleles A and a must add up to unity i.e. p + q =1,
q = 1-p and p = 1-q,
Then from above calculation the value of p=0.76,
so value of q = 1-0.76 = 0.24
As per equation, p + q = 1
0.76 + 0.24 = 1
Hence verified
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