Population Genetics

Genetic Variation

Genetic variation is a measure of the variation that exists in the genetic makeup of individuals within population.

Learning Objectives

Assess the ways in which genetic variance affects the evolution of populations

Key Takeaways

Key Points

  • Genetic variation is an important force in evolution as it allows natural selection to increase or decrease frequency of alleles already in the population.
  • Genetic variation can be caused by mutation (which can create entirely new alleles in a population), random mating, random fertilization, and recombination between homologous chromosomes during meiosis (which reshuffles alleles within an organism's offspring).
  • Genetic variation is advantageous to a population because it enables some individuals to adapt to the environment while maintaining the survival of the population.

Key Terms

  • genetic diversity: the level of biodiversity, refers to the total number of genetic characteristics in the genetic makeup of a species
  • crossing over: the exchange of genetic material between homologous chromosomes that results in recombinant chromosomes
  • phenotypic variation: variation (due to underlying heritable genetic variation); a fundamental prerequisite for evolution by natural selection
  • genetic variation: variation in alleles of genes that occurs both within and among populations

Genetic Variation

Genetic variation is a measure of the genetic differences that exist within a population. The genetic variation of an entire species is often called genetic diversity. Genetic variations are the differences in DNA segments or genes between individuals and each variation of a gene is called an allele.For example, a population with many different alleles at a single chromosome locus has a high amount of genetic variation. Genetic variation is essential for natural selection because natural selection can only increase or decrease frequency of alleles that already exist in the population.

Genetic variation is caused by:

  • mutation
  • random mating between organisms
  • random fertilization
  • crossing over (or recombination) between chromatids of homologous chromosomes during meiosis

The last three of these factors reshuffle alleles within a population, giving offspring combinations which differ from their parents and from others.


Genetic variation in the shells of Donax variabilis: An enormous amount of phenotypic variation exists in the shells of Donax varabilis, otherwise known as the coquina mollusc. This phenotypic variation is due at least partly to genetic variation within the coquina population.

Evolution and Adaptation to the Environment

Variation allows some individuals within a population to adapt to the changing environment. Because natural selection acts directly only on phenotypes, more genetic variation within a population usually enables more phenotypic variation. Some new alleles increase an organism's ability to survive and reproduce, which then ensures the survival of the allele in the population. Other new alleles may be immediately detrimental (such as a malformed oxygen-carrying protein) and organisms carrying these new mutations will die out. Neutral alleles are neither selected for nor against and usually remain in the population. Genetic variation is advantageous because it enables some individuals and, therefore, a population, to survive despite a changing environment.


Low genetic diversity in the wild cheetah population: Populations of wild cheetahs have very low genetic variation. Because wild cheetahs are threatened, their species has a very low genetic diversity. This low genetic diversity means they are often susceptible to disease and often pass on lethal recessive mutations; only about 5% of cheetahs survive to adulthood.

Geographic Variation

Some species display geographic variation as well as variation within a population. Geographic variation, or the distinctions in the genetic makeup of different populations, often occurs when populations are geographically separated by environmental barriers or when they are under selection pressures from a different environment. One example of geographic variation are clines: graded changes in a character down a geographic axis.

Sources of Genetic Variation

Gene duplication, mutation, or other processes can produce new genes and alleles and increase genetic variation. New genetic variation can be created within generations in a population, so a population with rapid reproduction rates will probably have high genetic variation. However, existing genes can be arranged in new ways from chromosomal crossing over and recombination in sexual reproduction. Overall, the main sources of genetic variation are the formation of new alleles, the altering of gene number or position, rapid reproduction, and sexual reproduction.

Genetic Drift

Genetic drift is the change in allele frequencies of a population due to random chance events, such as natural disasters.

Learning Objectives

Distinguish between selection and genetic drift

Key Takeaways

Key Points

  • Genetic drift is the change in the frequency of an allele in a population due to random sampling and the random events that influence the survival and reproduction of those individuals.
  • The bottleneck effect occurs when a natural disaster or similar event randomly kills a large portion (i.e. random sample) of the population, leaving survivors that have allele frequencies that were very different from the previous population.
  • The founder effect occurs when a portion of the population (i.e. "founders") separates from the old population to start a new population with different allele frequencies.
  • Small populations are more susceptible genetic drift than large populations, whose larger numbers can buffer the population against chance events.

Key Terms

  • genetic drift: an overall shift of allele distribution in an isolated population, due to random sampling
  • founder effect: a decrease in genetic variation that occurs when an entire population descends from a small number of founders
  • random sampling: a subset of individuals (a sample) chosen from a larger set (a population) by chance

Genetic Drift vs. Natural Selection

Genetic drift is the converse of natural selection. The theory of natural selection maintains that some individuals in a population have traits that enable to survive and produce more offspring, while other individuals have traits that are detrimental and may cause them to die before reproducing. Over successive generation, these selection pressures can change the gene pool and the traits within the population. For example, a big, powerful male gorilla will mate with more females than a small, weak male and therefore more of his genes will be passed on to the next generation. His offspring may continue to dominate the troop and pass on their genes as well. Over time, the selection pressure will cause the allele frequencies in the gorilla population to shift toward large, strong males.

Unlike natural selection, genetic drift describes the effect of chance on populations in the absence of positive or negative selection pressure. Through random sampling, or the survival or and reproduction of a random sample of individuals within a population, allele frequencies within a population may change. Rather than a male gorilla producing more offspring because he is stronger, he may be the only male available when a female is ready to mate. His genes are passed on to future generation because of chance, not because he was the biggest or the strongest. Genetic drift is the shift of alleles within a population due to chance events that cause random samples of the population to reproduce or not.


Effect of genetic drift: Genetic drift in a population can lead to the elimination of an allele from that population by chance. In this example, the brown coat color allele (B) is dominant over the white coat color allele (b). In the first generation, the two alleles occur with equal frequency in the population, resulting in p and q values of.5. Only half of the individuals reproduce, resulting in a second generation with p and q values of.7 and.3, respectively. Only two individuals in the second generation reproduce and, by chance, these individuals are homozygous dominant for brown coat color. As a result, in the third generation the recessive b allele is lost.

Small populations are more susceptible to the forces of genetic drift. Large populations, on the other hand, are buffered against the effects of chance. If one individual of a population of 10 individuals happens to die at a young age before leaving any offspring to the next generation, all of its genes (1/10 of the population's gene pool) will be suddenly lost. In a population of 100, that individual represents only 1 percent of the overall gene pool; therefore, genetic drift has much less impact on the larger population's genetic structure.

The Bottleneck Effect

Genetic drift can also be magnified by natural events, such as a natural disaster that kills a large portion of the population at random. The bottleneck effect occurs when only a few individuals survive and reduces variation in the gene pool of a population. The genetic structure of the survivors becomes the genetic structure of the entire population, which may be very different from the pre-disaster population.


Effect of a bottleneck on a population: A chance event or catastrophe can reduce the genetic variability within a population.

The Founder Effect

Another scenario in which populations might experience a strong influence of genetic drift is if some portion of the population leaves to start a new population in a new location or if a population gets divided by a physical barrier of some kind. In this situation, it is improbable that those individuals are representative of the entire population, which results in the founder effect. The founder effect occurs when the genetic structure changes to match that of the new population's founding fathers and mothers.


The Founder Effect: The founder effect occurs when a portion of the population (i.e. "founders") separates from the old population to start a new population with different allele frequencies.

The founder effect is believed to have been a key factor in the genetic history of the Afrikaner population of Dutch settlers in South Africa, as evidenced by mutations that are common in Afrikaners, but rare in most other populations. This was probably due to the fact that a higher-than-normal proportion of the founding colonists carried these mutations. As a result, the population expresses unusually high incidences of Huntington's disease (HD) and Fanconi anemia (FA), a genetic disorder known to cause blood marrow and congenital abnormalities, even cancer.

Drift and fixation

The Hardy–Weinberg principle states that within sufficiently large populations, the allele frequencies remain constant from one generation to the next unless the equilibrium is disturbed by migration, genetic mutation, or selection.

Because the random sampling can remove, but not replace, an allele, and because random declines or increases in allele frequency influence expected allele distributions for the next generation, genetic drift drives a population towards genetic uniformity over time. When an allele reaches a frequency of 1 (100%) it is said to be "fixed" in the population and when an allele reaches a frequency of 0 (0%) it is lost. Once an allele becomes fixed, genetic drift for that allele comes to a halt, and the allele frequency cannot change unless a new allele is introduced in the population via mutation or gene flow. Thus even while genetic drift is a random, directionless process, it acts to eliminate genetic variation over time.


Genetic drift over time: Ten simulations of random genetic drift of a single given allele with an initial frequency distribution 0.5 measured over the course of 50 generations, repeated in three reproductively synchronous populations of different sizes. In these simulations, alleles drift to loss or fixation (frequency of 0.0 or 1.0) only in the smallest population.Effect of population size on genetic drift: Ten simulations each of random change in the frequency distribution of a single hypothetical allele over 50 generations for different sized populations; first population size n=20, second population n=200, and third population n=2000.

Gene Flow and Mutation

A population's genetic variation changes as individuals migrate into or out of a population and when mutations introduce new alleles.

Learning Objectives

Explain how gene flow and mutations can influence the allele frequencies of a population

Key Takeaways

Key Points

  • Plant populations experience gene flow by spreading their pollen long distances.
  • Animals experience gene flow when individuals leave a family group or herd to join other populations.
  • The flow of individuals in and out of a population introduces new alleles and increases genetic variation within that population.
  • Mutations are changes to an organism's DNA that create diversity within a population by introducing new alleles.
  • Some mutations are harmful and are quickly eliminated from the population by natural selection; harmful mutations prevent organisms from reaching sexual maturity and reproducing.
  • Other mutations are beneficial and can increase in a population if they help organisms reach sexual maturity and reproduce.

Key Terms

  • gene flow: the transfer of alleles or genes from one population to another
  • mutation: any heritable change of the base-pair sequence of genetic material

Gene Flow

An important evolutionary force is gene flow: the flow of alleles in and out of a population due to the migration of individuals or gametes. While some populations are fairly stable, others experience more movement and fluctuation. Many plants, for example, send their pollen by wind, insects, or birds to pollinate other populations of the same species some distance away. Even a population that may initially appear to be stable, such as a pride of lions, can receive new genetic variation as developing males leave their mothers to form new prides with genetically-unrelated females. This variable flow of individuals in and out of the group not only changes the gene structure of the population, but can also introduce new genetic variation to populations in different geological locations and habitats.


Gene flow: Gene flow can occur when an individual travels from one geographic location to another.

Maintained gene flow between two populations can also lead to a combination of the two gene pools, reducing the genetic variation between the two groups. Gene flow strongly acts against speciation, by recombining the gene pools of the groups, and thus, repairing the developing differences in genetic variation that would have led to full speciation and creation of daughter species.

For example, if a species of grass grows on both sides of a highway, pollen is likely to be transported from one side to the other and vice versa. If this pollen is able to fertilize the plant where it ends up and produce viable offspring, then the alleles in the pollen have effectively linked the population on one side of the highway with the other.


Mutations are changes to an organism's DNA and are an important driver of diversity in populations. Species evolve because of the accumulation of mutations that occur over time. The appearance of new mutations is the most common way to introduce novel genotypic and phenotypic variance. Some mutations are unfavorable or harmful and are quickly eliminated from the population by natural selection. Others are beneficial and will spread through the population. Whether or not a mutation is beneficial or harmful is determined by whether it helps an organism survive to sexual maturity and reproduce. Some mutations have no effect on an organism and can linger, unaffected by natural selection, in the genome while others can have a dramatic effect on a gene and the resulting phenotype.


Mutation in a garden rose: A mutation has caused this garden moss rose to produce flowers of different colors. This mutation has introduce a new allele into the population that increases genetic variation and may be passed on to the next generation.

Nonrandom Mating and Environmental Variance

Population structure can be altered by nonrandom mating (the preference of certain individuals for mates) as well as the environment.

Learning Objectives

Explain how environmental variance and nonrandom mating can change gene frequencies in a population

Key Takeaways

Key Points

  • Nonrandom mating can occur when individuals prefer mates with particular superior physical characteristics or by the preference of individuals to mate with individuals similar to themselves.
  • Nonrandom mating can also occur when mates are chosen based on physical accessibility; that is, the availability of some mates over others.
  • Phenotypes of individuals can also be influenced by the environment in which they live, such as temperature, terrain, or other factors.
  • A cline occurs when populations of a given species vary gradually across an ecological gradient.

Key Terms

  • cline: a gradation in a character or phenotype within a species or other group
  • sexual selection: a mode of natural selection in which some individuals out-reproduce others of a population because they are better at securing mates
  • assortative mating: between males and females of a species, the mutual attraction or selection, for reproductive purposes, of individuals with similar characteristics

Nonrandom Mating

If individuals nonrandomly mate with other individuals in the population, i.e. they choose their mate, choices can drive evolution within a population. There are many reasons nonrandom mating occurs. One reason is simple mate choice or sexual selection; for example, female peahens may prefer peacocks with bigger, brighter tails. Traits that lead to more matings for an individual lead to more offspring and through natural selection, eventually lead to a higher frequency of that trait in the population. One common form of mate choice, called positive assortative mating, is an individual's preference to mate with partners that are phenotypically similar to themselves.


Assortative mating in the American Robin: The American Robin may practice assortative mating on plumage color, a melanin based trait, and mate with other robins who have the most similar shade of color. However, there may also be some sexual selection for more vibrant plumage which indicates health and reproductive performance.

Another cause of nonrandom mating is physical location. This is especially true in large populations spread over large geographic distances where not all individuals will have equal access to one another. Some might be miles apart through woods or over rough terrain, while others might live immediately nearby.

Environmental Variance

Genes are not the only players involved in determining population variation. Phenotypes are also influenced by other factors, such as the environment. A beachgoer is likely to have darker skin than a city dweller, for example, due to regular exposure to the sun, an environmental factor. Some major characteristics, such as gender, are determined by the environment for some species. For example, some turtles and other reptiles have temperature-dependent sex determination (TSD). TSD means that individuals develop into males if their eggs are incubated within a certain temperature range, or females at a different temperature range.


Temperature-dependent sex determination: The sex of the American alligator (Alligator mississippiensis) is determined by the temperature at which the eggs are incubated. Eggs incubated at 30 degrees C produce females, and eggs incubated at 33 degrees C produce males.

Geographic separation between populations can lead to differences in the phenotypic variation between those populations. Such geographical variation is seen between most populations and can be significant. One type of geographic variation, called a cline, can be seen as populations of a given species vary gradually across an ecological gradient.

Geographic variation in moose: This graph shows geographical variation in moose; body mass increase positively with latitude. Bergmann's Rule is an ecologic principle which states that as latitude increases the body mass of a particular species increases. The data are taken from a Swedish study investigating the size of moose as latitude increases as shows the positive relationship between the two, supporting Bergmann's Rule.

Species of warm-blooded animals, for example, tend to have larger bodies in the cooler climates closer to the earth's poles, allowing them to better conserve heat. This is considered a latitudinal cline. Alternatively, flowering plants tend to bloom at different times depending on where they are along the slope of a mountain, known as an altitudinal cline.

If there is gene flow between the populations, the individuals will likely show gradual differences in phenotype along the cline. Restricted gene flow, on the other hand, can lead to abrupt differences, even speciation.

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