奠基者效应与美洲印第安部落中观察到的私有多态性数量
Founder effect and number of private polymorphisms observed in Amerindian tribes.
作者信息
Neel J V, Thompson E A
出版信息
Proc Natl Acad Sci U S A. 1978 Apr;75(4):1904-8. doi: 10.1073/pnas.75.4.1904.
In studies extending over the past dozen years, we have observed eight examples of "private" genetic polymorphisms in 12 Amerindian tribes surveyed for electrophoretic variants of an average of 25 proteins. Each of these is presumed to trace to a single mutation. In a preceding communication [Thompson, E.A. & Neel, J.V. (1978) Proc. Natl. Acad. Sci. USA 75, 1442-1445] the statistical theory was developed for estimating the likelihood of such a founder effect in a tribal population of this type. In this paper that theory is applied to the distribution defined by these eight variants. It is demonstrated that on the assumption that the phenotypes in question are selectively neutral, such findings are most compatible with a mutation rate of 7 X 10(-6)/locus per generation. This figure applies only to variants that can be detected by the electrophoretic technique.
在过去十二年进行的研究中，我们在对平均25种蛋白质的电泳变体进行调查的12个美洲印第安部落中观察到了8个“私有”基因多态性实例。这些实例中的每一个都被推测源自单个突变。在之前的一篇通讯文章[汤普森，E.A. & 尼尔，J.V.（1978年）《美国国家科学院院刊》75卷，第1442 - 1445页]中，我们提出了统计理论，用于估计在这类部落群体中出现这种奠基者效应的可能性。在本文中，该理论被应用于由这8个变体所定义的分布情况。结果表明，在假设所讨论的表型是选择性中性的前提下，这些发现与每代每基因座7×10⁻⁶的突变率最为相符。这个数字仅适用于可通过电泳技术检测到的变体。
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