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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.

While some alleles of a given gene might be observed commonly, other variants may be encountered at a much lower frequency. Gene pools are not static. The frequency and occurrence of alleles in a gene pool may change over time. For instance, allele frequencies change due to random mutations, natural selection, migration, and chance.

Population genetics examines genetic variation within and between populations, and changes in allele frequencies across generations. Population geneticists use mathematical models to investigate and predict allele frequencies in populations.

Comparative Population Genetics and Its Implications

The gene pools of natural populations may vary significantly. One goal of population genetics is to determine genetic variation among different populations of the same species. Studying such variations has implications for species health, domestication, management and conservation. For instance, increased urbanization gradually fragments natural landscapes and leads to habitat loss, division, and isolation of natural populations. Comparing the genetic makeup of different populations can provide insights about gene flow, and is important for maintaining wildlife populations. Understanding the gene pool of endangered species is crucial for conserving biodiversity in the global ecosystem.

Human Health and Population Genetics

Population genetics can also be used to investigate the genetic variation within and among human populations. Differences in allele frequencies underlie the variation in the occurrence of certain hereditary diseases, such as Tay-Sachs disease in the Ashkenazi Jewish population or beta-thalassemia in Mediterranean populations.

Population genetics is also used to understand the genetic basis of other human characteristics. For instance, population genetics has been used to study how natural selection has shaped innate immunity, body height, and longevity.