A Project Report On "POPULATION GENETICS"
Submitted By:
Name: NEHA DASH
Class: +3 3rd Year Science
(2022-25)
Roll No.: 2202010820220027
Subject: Zoology Honours
Paper: DSE-IV
Under the Guidance of Smt. Katyaini Mohanty Head of
the Department of Zoology
S.S.D. MAHAVIDYALAYA, GURUDIJHATIA, CUTTACK
CONTENT
Acknowledgement
Certificate
Declaration
Introduction
Historical Background work
Origin of population genetics
Experiments and research work
Types of selections: -
- Natural selection
- Directional selection
- Stabilizing selection
- Disruptive selection
Genetic drift
The founder effect
The Bottleneck effect
Gene flow
Genetic variation
Linkage disequilibrium
Conclusion
Reference
ACKNOWLEDGEMENT
I pay my sincere and heart full thanks to everybody who
participated with me in the completion procedure of
this project. I am very much thankful and would give my
sincere gratitude Render in zoology-cu to Smt. Katyaini
Mohanty, head of the department of zoology and Sri
Bijaya Kumar Sahoo, demonstrater of Zoology for their
precious and ardent inspiration, constant supervision,
scholarly behavalent guidance, constructive
suggestions, and timely advice in the preparation of the
topic.
I also convey my thanks to all of my friends for their
inspiration and encouragement blessings and affection
from my parents is the inspiration to complete this
report on time.
CERTIFICATE
This is to certify that project topic entitled
"POPULATION GENETICS " was presented by Neha Dash
A Students of +3 3rd year Science of Zoology (Honours)
with Roll No. 2202010820220027 Under my supervision
and guidance.
DECLARATION
I NEHA DASH student of +3 3rd year, hereby declare
that, I am submitting a project Titled "POPULATION
GENETICS " under the supervision of [Link]
Mohanty, Reader-cum-HoD of zoology.
This above said project is to be a part towards the
fulfillment of the requirement of the course study. This
project is an original one and has not been submitted to
any organization for the fulfillment of any course.
INTRODUCTION
Population genetics is the study of genetic variation within populations
and how these variations change over time. It plays a pivotal role in
understanding evolutionary mechanisms, speciation, and genetic
disorders. The field combines classical genetics with mathematical models
to explain allele frequency changes and their impact on species evolution.
With advancements in genetic sequencing and computational biology,
scientists now have greater insight into the genetic structure of
populations. This research aids in areas like evolutionary biology, disease
mapping, conservation biology, and agriculture. By studying genetic
variations, population genetics contributes to the development of gene-
based therapies and improved strategies for conserving
endangered species.
HISTORICAL BACKGROUND
The history of population genetics dates back to the early theories of
heredity. Ancient philosophers like Aristotle speculated about
inheritance, but scientific understanding only began with Gregor
Mendel's experiments on pea plants. Mendel’s discovery of dominant and
recessive traits laid the groundwork for modern genetics.
Charles Darwin’s theory of natural selection, published in On the Origin of
Species (1859), provided the evolutionary perspective, while Mendel’s
work on inheritance (rediscovered in the early 20th century) explained
the mechanism. Scientists like Ronald Fisher, J.B.S. Haldane, and Sewall
Wright integrated Mendelian genetics with evolutionary biology, forming
the Modern Synthesis. One of the foundational concepts developed
during this period was the Hardy-Weinberg Principle, introduced in 1908,
which mathematically describes allele frequency stability in a population
under ideal conditions.
Origin of Population Genetics
The synthesis of Darwinism and Mendelism, which marked the birth of
modern population genetics.
Darwin's Origin of Species, propounded two main theses: firstly, that
modern species were descended from common ancestors, and secondly
that the process of natural selection was the major mechanism of
evolutionary change.
Mendles Experiment
Mendel's theory of inheritance are straightforward. In his experimental
work on pea plants, Mendel observed an unusual phenomenon. He began
with two 'pure breeding' lines, one producing plants with round seeds,
the other wrinkled seeds.
He then crossed these to produce the first daughter generation (the F1
generation). The F1 plants all had round seeds-the wrinkled trait had
disappeared from the population.
Hardy-Weinberg Equilibrium
The Hardy-Weinberg principle states that frequencies of alleles and
genotypes in a population remain constant from generation to
generation.
In a given population where gametes contribute to the next generation
randomly, allele frequencies will not change.
p² + 2pq + q2 = 1
The Hardy-Weinberg principle describes a population that is not evolving
If a population does not meet the criteria of the Hardy-Weinberg
principle, it can be concluded that the population is evolving.
Hardy-Weinberg equilibrium describes the constant frequency of alleles
in such a gene pool.
Consider, for example, the same population of 500 wildflowers and 1,000
alleles where:
p = freq CR = 0.8 q = freq CW = 0.2
The frequency of genotypes can be calculated
If p and q represent the relative frequencies of the only two possible
alleles in a population at a particular locus, then:
p² + 2pq + q2 = 1
where p² and q² represent the frequencies of the homozygous genotypes
and 2pq represents the frequency of the heterozygous genotype.
Conditions for Hardy-Weinberg Equilibrium: -
The Hardy-Weinberg theorem describes a hypothetical population that is
not evolving.
In real populations, allele and genotype frequencies do change over time.
It predicts both allele and genotype frequencies in populations (non-
evolving ones).
The first condition that must be met for Hardy-Weinberg equilibrium is
the lack of mutations in a population.
The second condition that must be met for Hardy-Weinberg equilibrium
is no gene flow in a population.
The third condition that must be met is the population size must be
sufficient so that there is no genetic drift.
The fourth condition that must be met is random mating within the
population.
Finally, the fifth condition necessitates that natural selection must not
occur.
Applying the Hardy-Weinberg Principle: -
We can assume the locus that causes phenylketonuria (PKU) is in Hardy-
Weinberg equilibrium given that:
The PKU gene mutation rate is low
Mate selection is random with respect to whether or not an individual is
a carrier for the PKU allele.
Natural selection can only act on rare homozygous individuals who do not
follow dietary restrictions.
The population is large.
Migration has no effect as many other populations have similar allele
frequencies.
The occurrence of PKU is 1 per 10,000 births
- q ^ 2 = 0.0001
- q = 0.01
The frequency of normal alleles is
p = 1 - q = 1 - 0.01 = 0.99
The frequency of carriers is
2pq = 2 * 0.99 * 0.01 = 0.0198
or approximately 2% of the population.
Natural Selection
Natural selection is the process through which populations of living
organisms adapt and change. Individuals in a population are naturally
variable, meaning that they are all different in some ways.
Differential success in reproduction results in certain alleles being passed
to the next generation in greater proportions.
For example, an allele that confers resistance to DDT increased in
frequency after DDT was used widely in agriculture.
Directional Selection
Directional Selection-one extreme trait is favoured over the others,
causing the organism to be more fit and have more offspring that survive.
An example of this is running speed in rabbits. The faster rabbits can
outrun predators easier, so they are less likely to get eaten, and more
likely to survive and produce offspring. Directional selection Favors the
trait of fast running.
Stabilizing Selection
Stabilizing Selection- the traits that are the most average are selected for,
and the extremes are selected against.
One example of a trait that has experienced stabilizing selection is birth
weight. Babies that are very small are often not healthy enough to survive,
while babies that are too large may get stuck in the birth canal, causing
death of the baby and frequently death of the mother as well.
Disruptive Selection
the extreme traits are selected for, and average traits are selected against.
One example of this is beak sizes in birds. If the only seeds available in an
environment are small seeds and large seeds, natural selection will Favor
birds with either small or large beaks. The birds with medium sized beaks
will not be very effective at feeding, so medium beaks will be selected
against.
GENETIC DRIFT
Genetic drift (allelic drift or the Sewall Wright effect) is the change in the
frequency of an existing gene variant (allele) in a population due to
random sampling of organisms.
The alleles in the offspring are a sample of those in the parents, and
chance has a role in determining whether a given individual survives and
reproduces.
Genetic drift may cause gene variants to disappear completely and
thereby reduce genetic variation.
It can also cause initially rare alleles to become much more frequent and
even fixed.
When few copies of an allele exist, the effect of genetic drift is larger, and
when many copies exist, the effect is smaller.
In 1968, population geneticist Motoo Kimura rekindled the debate with his
neutral theory of molecular evolution, which claims that most instances where
a genetic change spreads across a population are caused by genetic drift acting
on neutral mutations.
The Founder Effect
The founder effect occurs when a few individuals become isolated from a
larger population.
Allele frequencies in the small founder population can be different from
those in the larger parent population.
The Bottleneck Effect
The bottleneck effect is a sudden reduction in population size due to a
change in the environment.
The resulting gene pool may no longer be reflective of the original
population's gene pool.
If the population remains small, it may be further affected by genetic drift.
Gene Flow
Gene flow consists of the movement of alleles among populations.
Alleles can be transferred through the movement of ferti individuals or
gametes (for example, pollen).
Gene flow tends to reduce variation among populations over time.
Gene flow can decrease the fitness of a population.
Consider, for example, the great tit (Parus major) on the Dutch island of
Vlieland.
Mating causes gene flow between the central and eastern populations.
Immigration from the mainland introduces alleles that decrease fitness.
Natural selection selects for alleles that increase fitness.
Birds in the central region with high immigration have a lower fitness;
birds in the east with low immigration have a higher fitness.
Gene flow is an important agent of evolutionary change in
human populations.
Genetic Variation
Describe the variation in the DNA sequence in each of our genomes.
Genetic variation is what makes us all unique, whether in terms of hair
colour, skin colour or even the shape of our faces.
Individuals of a species have similar characteristics but they are rarely
identical, the difference between them is called variation.
Single nucleotide polymorphisms (SNPs, pronounced 'snips') are the most
common type of genetic variation amongst people.
Each single nucleotide polymorphism represents a difference in a single
DNA base, A, C, G or T, in a person's DNA. On average they occur once in
every 300 bases and are often found in the DNA between genes.
Genetic variation results in different forms, or alleles, of genes.
For example, if we look at eye colour, people with blue eyes have one
allele of the gene for eye colour, whereas people with brown eyes will
have a different allele of the gene.
Genetic variation can also explain some differences in disease
susceptibility and how people react to drugs.
Genetic variation is important in evolution.
Evolution relies on genetic variation that is passed down from one
generation to the next. Favourable characteristics are 'selected' for,
survive and are passed on. This is known as natural selection.
How Genetic Variation Is Maintained?
Many factors are involved:
1. MUTATION
One of these is mutation, which is in fact the ultimate source of all
variation. However, mutations do not occur very frequently.
This rate is too slow to account for most of the polymorphisms seen in
natural populations.
However, mutation probably does explain some of the very rare
phenotypes seen occasionally, such as albinism in humans and
other mammals.
2. SELECTIVE NEUTRALITY
A second factor contributing to genetic variation in natural populations is
selective neutrality.
Selective neutrality describes situations in which alternate alleles for a
gene differ little in fitness. Because small fitness differences result in only
weak natural selection, selection may be overpowered by the random
force of genetic drift.
Alleles whose frequencies are governed by genetic drift rather than by
natural selection are said to be selectively neutral.
3. NATURAL SELECTION
Finally, several forms of natural selection act to maintain genetic variation
rather than to eliminate it.
These include balancing selection, frequency-dependent selection, and
changing patterns of natural selection over time and space.
.
3.1 Balancing selection occurs when there is heterozygote advantage at a
locus, a situation in which the heterozygous genotype has greater
fitness than either of the two homozygous genotypes.
Under heterozygote advantage, both alleles involved will be
maintained in a population.
A classic example of heterozygote advantage concerns the allele for
sickle-cell anemia. Individuals who are homozygous for the sickle-cell
allele have sickle-cell anemia, which causes the red blood cells to
become sickle-shaped when they release oxygen.
These sickle-shaped cells become caught in narrow blood vessels,
blocking blood flow.
Prior to the development of modern treatments, the disease was
associated with very low fitness, since individuals usually died before
reproductive age.
Heterozygotes, however, have normal, donut-shaped blood cells and
do not suffer from sickle-cell anemia.
In addition, they enjoy a benefit of the sickle-cell allele, which offers
protection from malaria.
Consequently, heterozygous individuals have greater fitness than
individuals who have two copies of the normal allele.
Heterozygote advantage in this system is believed to have played a
critical role in allowing a disease as harmful as sickle-cell anemia to
persist in human populations.
Evidence for this comes from an examination of the distribution of the
sickle-cell allele, which is only found in places where
malaria is a danger.
3.1 Another form of natural selection that maintains genetic variation in
populations is frequency-dependent selection.
Under frequency-dependent selection, the fitness of a genotype depends
on its relative frequency within the population, with less-common
genotypes being more fit than genotypes that occur at high frequency.
Frequency-dependent selection is believed to be fairly common in natural
populations.
For example, in situations where there is competition for resources,
individuals with rare preferences may enjoy greater fitness than those who
have more common preferences.
Frequency-dependent selection may also play a role in predation: if
predators form a search image for more common prey types, focusing on
capturing those, less common phenotypes may enjoy better survival.
Mutation Selection
Mutation-selection balance is an equilibrium in the number of deleterious
alleles in a population that occurs when the rate at which deleterious
alleles are created by mutation equals the rate at which deleterious alleles
are eliminated by selection.
The majority of genetic mutations are neutral or deleterious; beneficial
mutations are relatively rare.
The resulting influx of deleterious mutations into a population over time
is counteracted by negative selection which acts to purge deleterious
mutations.
Mutation-selection balance was originally proposed to explain how
genetic variation is maintained in populations.
Although several other ways for deleterious mutations to persist are now
recognized, notably balancing selection.
Neutral Theory of Molecular Evolution
The theory was introduced by the Japanese biologist Motoo Kimura in
1968, and independently by two American biologists Jack Lester King and
Thomas Hughes Jukes in 1969.
It holds that most evolutionary changes occur at the molecular level, and
most of the variation within and between species, are due to random
genetic drift of mutant alleles that are selectively neutral.
Mutations are either harmful or beneficial to the population.
A neutral mutation is one that does not affect an organism's ability to
survive and reproduce. The neutral theory assumes that most mutations
that are not deleterious are neutral rather than benefitcial.
The neutral theory instead proposed that the majority of molecular
changes, such as in DNA sequence, are caused by random processes
acting on selectively neutral mutants, meaning they inferred no
advantage or disadvantage.
By using complex calculations, Kimura showed that the rate of evolution
cannot be explained by positive or negative selection because it is too high
and that many mutations must instead be neutral.
Neutral mutations become widespread by a process called random
genetic drift, in which a mutation spreads throughout the population due
to chance alone.
Linkage Disequilibrium
Linkage disequilibrium different loci the non-random association of alleles
at is a sensitive indicator of the population genetic forces that structure a
genome.
non-random association of alleles at different loci in a given population.
Linkage disequilibrium is influenced by many factors, including selection,
the rate of genetic recombination, mutation rate, genetic drift the system
of mating, population structure, and genetic linkage.
Mechanisms that restrict recombination, such as asexual reproduction,
promote the continuance of linkage disequilibrium, leading to the
domination of a limited number of alleles.
Linkage disequilibrium is also maintained through chromosomal
translocations and inversions that reduce recombination.
When natural selection Favors linkage disequilibrium, chromosomal
rearrangements will also increase the linkage.
The so-called supergenes are closely linked genes that affect one or
several related traits that have arisen through linkage disequilibrium.
When the frequency of genotypes at more than two loci can be expressed
as the cumulative product of the respective allele frequencies of each locus,
those genes are said to be at the state of “linkage equilibrium”.
Suppose that two different loci, A and B, each have two alleles, A1 and A2,
and B1 and B2, respectively. Let us denote frequencies of alleles A1 and A
2 at locus A in a population as x1 and x2.
Similarly, let us denote the allele frequencies at locus B as y1 and y2.
The genotypic frequency, X1, of A1 B1 (allele A1 at locus A and allele B1
at locus B) can be expressed as X1 = x1y1 when those genes are at linkage
equilibrium. When this relationship does not hold for some reason, those
genes are said to be in a state of “linkage disequilibrium”.
Therefore, the linkage disequilibrium, D, can be measured by D (X1-x1y1).
When D = 0, linkage equilibrium exists.
CONCLUSION
Population genetics remains a dynamic and evolving field, offering
insights into genetic diversity, evolution, and adaptation. By integrating
modern technologies, researchers can unlock new possibilities in
conservation, medicine, and biotechnology. Understanding genetic
variation not only helps in preserving species but also in treating genetic
disorders and improving agricultural productivity. The continuous
exploration of genetic mechanisms will shape the future of biodiversity
and human health.
Reference
1. Hartl, D. L., & Clark, A. G. (2007). Principles of population genetics.
Sinauer Associates.
2. Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (1994). The history and
geography of human genes. Princeton University Press.
3. Weir, B. S. (1996). Genetic data analysis II. Sinauer Associates.
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