Population Genetics: Overview


Population genetics is concerned with the nature of, and the forces determining, the genetic composition of a population. Since any presently observed population is the outcome of an evolutionary process, the subject is in large part concerned with evolutionary questions. Indeed the evolutionary component of population genetics may be thought of as the rewriting of the Darwinian theory in terms of the Mendelian hereditary mechanism. This involves, for example, determining the rate of incorporation of favourable new alleles into a population, and the evolutionary effects of mutation. These activities are prospective, that is they discuss changes in the structure of a population forwards in time. However population genetics theory is currently largely retrospective, assessing the past history of a population (‘When and where did the most recent common ancestor of all currently living humans live?’) and investigating what forces led to the currently observed genetic composition of a population.

Key Concepts:

  • The additive genetic variance is that component of the variation in any character which is explained by ‘genes within genotypes’.

  • The blending theory asserts that the value of any characteristic of any child is approximately the average of the corresponding characteristics in that child's parents.

  • The correlation between relatives is the correlation in some character between close relatives (e.g. mother–daughter).

  • The Fundamental Theorem of Natural Selection relates aspects of the change in the mean fitness of a population from one generation to the next to the parental generation additive genetic variance in fitness.

  • The Hardy–Weinberg law shows that, in the absence of selection, genetic variation is maintained from one generation to the next.

  • The neutral theory claim that most of presently observed genetic variation in a population, and most of the variation from one population to another, did not arise as a result of selection but arose rather as a result of purely random changes in allelic frequencies.

  • Retrospective population genetics theory focuses on the past history of a population rather than its future evolution.

Keywords: coalescent; evolution; genotypes; fitness; Mendelism; mutation; selection; variation


Donnelly PJ and Tavaré S (1995) Coalescents and the genealogical structure under neutrality. Annual Review of Genetics 29: 542–551.

Etheridge AM and Griffiths RC (2009) A coalescent dual process in a Moran model with genic selection. Theoretical Population Biology 75: 320–330.

Ewens WJ (1989) An interpretation and proof of the fundamental theorem of natural selection. Theoretical Population Biology 36: 167–180.

Fisher RA (1918) The correlation between relatives on the supposition of Mendelian inheritance. Transactions of the Royal Society of Edinburgh 52: 399–433.

Fisher RA (1930) The Genetical Theory of Natural Selection. Cambridge: Cambridge University Press.

Haldane JBS (1932) The Causes of Evolution. London: Longman Green.

Hardy GH (1908) Mendelian proportions in a mixed population. Science 28: 49–50.

Hudson RR (1991) Gene genealogies and the coalescent process. In: Futuyma D and Antonovics J (eds) Oxford Surveys in Evolutionary Theory, pp. 1–44. Oxford: Oxford University Press.

Kimura M (1983) The Neutral Theory of Molecular Evolution. Cambridge: Cambridge University Press.

Kingman JFC (1982) The coalescent. Stochastic Processes and Their Applications 13: 235–248.

Malécot G (1948) The Mathematics of Heredity. Paris: Masson.

Watterson GA (1978) The homozygosity test of neutrality. Genetics 88: 405–417.

Weinberg W (1908) On the detection of heredity in man. Jahrshefte des Vereins für Vaterländische Naturkunde in Württemberg 64: 368–382.

Further Reading

Bürger R (2000) The Mathematical Theory of Recombination, Selection and Mutation. New York: Wiley.

Christiansen FB (2000) Population Genetics of Multiple Loci. New York: Wiley.

Crow JF and Kimura M (1970) An Introduction to Population Genetics Theory. New York: Harper and Row.

Ewens WJ (2004) Mathematical Population Genetics. Berlin: Springer.

Kingman JFC (2000) Origin of the coalescent: 1974–1982. Genetics 156: 1461–1463.

Lessard S (1997) Fisher's fundamental theorem of natural selection revisited. Theoretical Population Biology 52: 119–136.

Lewontin RC (1974) The Genetic Basis of Evolutionary Change. New York: Columbia University Press.

Nagylaki X (1992) Theoretical Population Genetics. Berlin: Springer.

Nei M (1975) Molecular Population Genetics and Evolution. Oxford: North‐Holland.

Tavaré S (2004) Ancestral inference in population genetics. In: Picard J (ed.) Lectures on Probability Theory and Statistics, pp. 3–188. Berlin: Springer.

Weir BS (1996) Genetic Data Analysis. Sunderland, MA: Sinauer.

Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

How to Cite close
Ewens, Warren J(Sep 2010) Population Genetics: Overview. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0001737.pub2]