Microsatellite diversity and the demographic history of modern humans

Microsatellite diversity and the demographic history of modern humans
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DOI:
10.1073/pnas.94.7.3100
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发表时间:
1997-04-01
影响因子:
11.1
通讯作者:
Harpending, HC
Harpending, HC
中科院分区:
综合性期刊1区
文献类型:
--
作者:
Jorde, LB;Rogers, AR;Harpending, HC

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我们研究了来自三个主要大陆群体的人群样本中68个微卫星基因座的多样性差异,以评估非洲在这类快速进化的基因座中具有更大多样性的假设。应用假设所有基因座的突变率相等的统计检验未能证明微卫星多样性的差异。而一项没有做出这一假设的随机试验发现,非洲人的微卫星多样性(P < 10(-8))明显高于亚洲人和欧洲人。更大的非洲多样性在等位基因大小总体变异较小的位点上最为明显,这表明在突变率较高的重复位点上,种群历史记录已经被抹去。功率分析表明,只需要35-40颗微型卫星就可以统计地确定这种差异,这表明这些系统中包含了相当多的演化信息。平均而言,非洲人口的微卫星多样性比亚洲和欧洲人口高约20%。一项对大陆微卫星和mtDNA序列多样性差异的比较表明,非洲人祖先的人口扩张更早。
Wt have examined differences in diversity at 68 microsatellite loci among human population samples from three major continental groups to evaluate the hypothesis of greater African diversity in this rapidly evolving class of loci, Application of a statistical test that assumes equal mutation rates at all loci fails to demonstrate differences in microsatellite diversity, while a randomization test that does not make this assumption finds that Africans have significantly greater microsatellite diversity (P < 10(-8)) than do Asians and Europeans. Greater African diversity is most apparent at loci with smaller overall variance in allele size, suggesting that the record of population history has been erased at repeat loci with higher mutation rates. A power analysis shows that only 35-40 microsatellites are needed to establish this difference statistically, demonstrating the considerable evolutionary information contained in these systems. On average, African populations have approximate to 20% greater microsatellite diversity than do Asian and European populations. A comparison of continental diversity differences in microsatellites and mtDNA sequences suggests earlier demographic expansion of the ancestors of Africans.