Hardy Weinberg equilibrium

In the absence of migration, mutation, natural selection, and assortative mating, genotype frequencies at any locus are a simple function of allele frequencies. This phenomenon, now termed Hardy-Weinberg equilibrium, was first described in the early part of the twentieth century (Hardy 1908; Weinberg 1908). These expectations appear to hold for most human populations, and deviations from Hardy-Weinberg equilibrium may suggest problems with genotyping or population structure or, in samples of affected individuals, an association between the marker and disease susceptibility.

References

  • Hardy HG (1908) Mendelian proportions in a mixed population. Science 28:49–50
  • Weinberg W (1908) On the demonstration of heredity in man. In: Boyer SH (1963) Papers on human genetics. Prentice Hall, Englewood Cliffs, NJ