A A Lin, J M Hebert, J L Mountain, L L Cavalli-Sforza
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引用次数: 0
摘要
在8个人群中发现了来自57个位点(28个基因和29个匿名DNA片段)的79个DNA多态性。在这里,我们展示了三个人群(日本人、新几内亚人和澳大利亚人)的等位基因频率,以及一个中国样本的修正频率:另外五个人群(比阿卡和姆布提俾格米人、美拉尼西亚人、中国人和欧洲人)的等位基因频率在之前已经描述过[Bowcock et al . 1991a]。对这些多态性的Hardy-Weinberg平衡的评估表明,新几内亚样本可能来自一个高度亚结构的种群。在8个种群中,79个标记(多态性)的平均FST值为0.147 +/- 0.011;随着3个种群的增加,一些标记的FST值发生了巨大变化,特别是澳大利亚人和新几内亚人。8个群体的平均杂合度为0.307±0.014。遗传距离表明,澳大利亚样本可能有一些欧洲血统。从这些距离推断出的平均联系树表明,现代人的第一次分裂发生在非洲人和非非洲人之间,而第二次主要分裂发生在澳大利亚人/新几内亚人和所有其他非非洲人之间。邻居连接树也将非洲人与其他人种区分开来。欧洲多态性确定偏差和欧洲混合似乎对群体杂合度估计和树推断都有影响。
Comparison of 79 DNA polymorphisms tested in Australians, Japanese and Papua New Guineans with those of five other human populations.
Seventy-nine DNA polymorphisms from 57 loci (28 genes and 29 anonymous DNA segments) have been typed in eight human populations. Here we present allele frequencies for three populations (Japanese, New Guineans, and Australians) as well as revised frequencies for a Chinese sample: allele frequencies for five additional populations (Biaka and Mbuti Pygmies, Melanesians, Chinese, and Europeans) were described previously [Bowcock et al 1991a]. Evaluation of Hardy-Weinberg equilibrium for these polymorphisms suggested that the New Guinean sample may be from a highly substructured population. Average FST value for the 79 markers (polymorphisms) was 0.147 +/- 0.011 across the eight populations: Fst values for some markers changed dramatically with the addition of three populations--in particular, Australians and New Guineans. Average heterozygosity for eight populations was 0.307 +/- 0.014. Genetic distances indicated that the Australian sample may have some European ancestry. An average linkage tree inferred from these distances suggested that the first split of modern humans was between Africans and non-Africans, while the second major split was between Australians/New Guineans and all other non-Africans. The neighbor-joining tree also separated the African populations from all others. European polymorphism ascertainment bias and European admixture appear to have influenced both estimation of population heterozygosity and tree inference.