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前向-后向突变模型下重复多态性的动态:微卫星位点的群体内和群体间变异性

Dynamics of repeat polymorphisms under a forward-backward mutation model: within- and between-population variability at microsatellite loci.

作者信息

Kimmel M, Chakraborty R, Stivers D N, Deka R

机构信息

Department of Statistics, Rice University, Houston, Texas 77251, USA.

出版信息

Genetics. 1996 May;143(1):549-55. doi: 10.1093/genetics/143.1.549.

Abstract

Suggested molecular mechanisms for the generation of new tandem repeats of simple sequences indicate that the microsatellite loci evolve via some of forward-backward mutation. We provide a mathematical basis for suggesting a measure of genetic distance between populations based on microsatellite variation. Our results indicate that such a genetic distance measure can remain proportional to the divergence time of populations even when the forward-backward mutations produce variable and/or directionally biased alleles size changes. If the population size and the rate of mutation remain constant, then the measure will be proportional to the time of divergence of populations. This genetic distance is expressed in terms of a ratio of components of variance of allele sizes, based on expressions developed for studying population dynamics of quantitative traits. Application of this measure to data on 18 microsatellite loci in the nine human populations leads to evolutionary trees consistent with the known ethnohistory of the populations.

摘要

简单序列新串联重复产生的分子机制表明,微卫星位点通过一些正向-反向突变进化。我们为基于微卫星变异提出一种群体间遗传距离的度量方法提供了数学基础。我们的结果表明,即使正向-反向突变产生可变和/或方向偏倚的等位基因大小变化,这种遗传距离度量仍可与群体的分化时间成比例。如果群体大小和突变率保持恒定,那么该度量将与群体的分化时间成比例。这种遗传距离是根据为研究数量性状的群体动态而开发的表达式,以等位基因大小方差成分的比率来表示的。将该度量应用于九个人类群体中18个微卫星位点的数据,得到的进化树与这些群体已知的民族历史一致。

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A new genetic distance with application to constrained variation at microsatellite loci.
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Mutation of human short tandem repeats.人类短串联重复序列的突变
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