A century of Hardy-Weinberg equilibrium

A century of Hardy-Weinberg equilibrium
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DOI:
10.1375/twin.11.3.249
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发表时间:
2008-06-01
影响因子:
0.9
通讯作者:
Mayo, Oliver
Mayo, Oliver
中科院分区:
医学4区
文献类型:
--
作者:
Mayo, Oliver

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Hardy-Weinberg平衡(Hardy-Weinberg equilibrium,HWE)是指在一个无限大的群体中,一个常染色体基因座上的两个等位基因在随机交配的一个离散世代后的基因型频率状态:如果等位基因是A和a,频率为p和q(=1-p),那么平衡基因频率就是p和q,AA、Aa和as的平衡基因型频率是p(2)、2 pq和q(2)。1908年由G. H.哈代和W.温伯格在W. E.卡塞尔和K皮尔森温伯格,众所周知的开创性研究的双胞胎,作出了许多重要贡献,遗传学,特别是人类遗传学。这种平衡的存在提供了一个参照点,据此可以检测和估计选择、连锁、突变、近亲繁殖和偶然性的影响。它的发现标志着群体遗传学的开始。
Hardy-Weinberg equilibrium (HWE) is the state of the genotypic frequency of two alleles of one autosomal gene locus after one discrete generation of random mating in an indefinitely large population: if the alleles are A and a with frequencies p and q(=1-p), then the equilibrium gene frequencies are simply p and q and the equilibrium genotypic frequencies for AA, Aa and as are p(2), 2pq and q(2). It was independently identified in 1908 by G. H. Hardy and W. Weinberg after earlier attempts by W. E. Castle and K. Pearson. Weinberg, well known for pioneering studies of twins, made many important contributions to genetics, especially human genetics. Existence of this equilibrium provides a reference point against which the effects of selection, linkage, mutation, inbreeding and chance can be detected and estimated. Its discovery marked the initiation of population genetics.