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Chapter
Introductory Chapter: Population
Genetics
Rafael Trindade Maia and Magnólia Campos de Araújo
1. Introduction
Population genetics is a science that studies the genetic composition and
distribution, as well as its effects, through mathematical formulas and indicators
for measuring genetic diversity. It aims to evaluate allele, phenotypic and genotypic
frequencies in populations of living beings; allowing to understand the origin and
dynamics of genetic variation, making it possible to make predictions about the
influences of one or more evolutionary processes on these compositions over gen-
erations. In this context, population genetics seeks to find an evolutionary meaning
to explain genetic variation in living beings and better understand the evolutionary
mechanisms that act on it.
Understanding the genetic diversity of populations has several uses, such as moni-
toring pathogens and vectors, conservation studies and species management, genetic
improvement of plants and animals, genetic counselling, monitoring of hereditary
diseases, etc. The mechanisms associated with changes in allelic and genotypic
frequencies are 1) Mutation; 2) Natural selection; 3) Migration (with gene flow);
4) Genetic drift [1].
2. Mutation
Mutations are the primary sources of genetic variation, responsible for avoiding
genetic homogeneity between populations, as they result in new alleles. By defini-
tion, mutations are changes in the DNA sequence, which may result from spontane-
ous errors in DNA replication during cell division or due to external factors such as
exposure to mutagenic chemicals, radiation and viral infections [2].
3. Natural selection
Natural selection, initially proposed by Darwin, advocated that those with charac-
teristics that increased the chance of survival or reproduction of individuals tended to
settle in populations. In this context, it can be said that natural selection works favour-
ing the advantageous alleles, genotypes and phenotypes and eliminating the unfavour-
able ones. There are two types of natural selection: positive or Darwinian selection,
which acts on an adaptive mutation by increasing its frequency in the population; and
negative or purifying selection, which acts in the opposite direction, reducing the
frequency or even eliminating deleterious mutations from populations [3].
1
Population Genetics
4. Migration (with gene flow)
The migration of individuals between different populations with consequent repro-
ductive success results in gene flow, which is the transfer of alleles between populations.
The outcome of these gene transfers depends on the difference between allelic frequen-
cies in populations and the number and proportion of migrant individuals. It is a crucial
evolutionary mechanism for conservation geneticists since gene flow is essential to
minimise the effects of inbreeding and genetic drift on natural populations [4].
5. Genetic drift
Of all the evolutionary mechanisms, genetic drift is the one that most randomly
alters the gene and allelic frequencies of populations. As it is a completely stochastic
process, it is impossible, at first, to predict the allelic frequencies in the face of a drift
event. This mechanism is associated with the loss of genetic variation in populations,
which may make them more vulnerable in subsequent generations. Genetic drift is a
consequence of a drastic alteration of natural and casual order, such as earthquakes,
tsunamis, tornadoes, floods, fires, avalanches and other processes, affecting a large
population contingent [5].
6. Hardy–Weinberg equilibrium
The Hardy–Weinberg equilibrium is one of the fundamental principles of
population genetics. Assuming that a population is panmictic and mated at random
and that there is no interference from evolutionary mechanisms (Mutation, Natural
Selection, Migration and Drift), allelic and genotypic frequencies remain the same
across generations. The Hardy–Weinberg theorem can be applied mathematically
to a pair of alleles (a gene) through Newton’s binomial, according to the following
expression in Eq. (1):
p2 + 2 pq + q2 =
1 (1)
Where:
p is the frequency of the A allele.
q is the frequency of the a allele.
p2 is a frequency of AA homozygotes.
q2 is a frequency of aa homozygotes.
2pq is the frequency of Aa heterozygotes.
When populations are not in Hardy–Weinberg equilibrium, it means that evolu-
tionary forces are acting and changing their allele and genotypic frequencies [6].
Analysing population genetics, through scientific investigations, is one of the best
ways to understand the evolutionary history of living beings, with diverse applica-
tions in various sectors (health, agriculture, genetic improvement, biotechnology,
etc.). In this sense, population genetics is an integrative and challenging science, with
great discoveries and challenges to be achieved and a great and promising future in
the post-genomic era.
2
Introductory Chapter: Population Genetics
DOI: http://dx.doi.org/10.5772/intechopen.104879
Author details
Rafael Trindade Maia1,2* and Magnólia Campos de Araújo2
1 Federal University of Campina Grande, Center for Sustainable Development of the
Semiarid Region, Sumé, Paraíba State, Brazil
2 Federal University of Campina Grande, Center of Education and Health,
Postgraduate Program in Natural Sciences and Biotechnology, Cuité, Paraíba State,
Brazil
© 2022 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of
the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided
the original work is properly cited.
3
Population Genetics
References
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Population genetics: Past, present, and
future. Human Genetics. 2021;140:231-
240. DOI: 10.1007/s00439-020-02208-5
[2] Hershberg R. Mutation—The engine
of evolution: Studying mutation and its
role in the evolution of bacteria. Cold
Spring Harbor Perspectives in Biology.
2015;7(9):a018077
[3] Gregory TR. Understanding natural
selection: Essential concepts and
common misconceptions. Evolution:
Education and Outreach. 2009;2:156-175
[4] Ellstrand NC, Rieseberg LH.
When gene flow really matters: Gene
flow in applied evolutionary biology.
Evolutionary Applications. 2016;9(7):
833-836
[5] Lynch M, Ackerman M, Gout JF, et al.
Genetic drift, selection and the evolution
of the mutation rate. Nature Review
Genetics. 2016;17:704-714. DOI: 10.1038/
nrg.2016.104
[6] Salanti G, Amountza G, Ntzani E,
et al. Hardy–Weinberg equilibrium in
genetic association studies: An empirical
evaluation of reporting, deviations,
and power. European Journal of Human
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