Larger genetic differences within africans than between Africans and Eurasians.
Larger genetic differences within africans than between Africans and Eurasians.
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非洲人之间的基因差异比非洲人和欧亚人之间的基因差异更大。
DOI：
10.1093/genetics/161.1.269
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发表时间：
2002
期刊：
影响因子：
3.3
通讯作者：
Li,Wen-Hsiung
中科院分区：
文献类型：
--
作者：
Yu,Ning;Chen,Feng-Chi;Ota,Satoshi;Jorde,LynnB;Pamilo,Pekka;Patthy,Laszlo;Ramsay,Michele;Jenkins,Trefor;Shyue,Song-Kun;Li,Wen-Hsiung
单核苷酸多态性（SNP）变异的世界范围内的模式是人类遗传学家，群体遗传学家和进化学家的极大兴趣，但仍然不完全理解。我们研究了非编码区的模式，因为它们比编码区受自然选择的影响更小。因此，它可以更好地反映人类进化的历史，并可以作为理解人类群体中SNPs维持的基线。我们对10名非洲人、10名欧洲人和10名亚洲人的50个非编码DNA片段进行了测序，每个片段长约1500 bp。对数据的分析表明，抽样方案足以达到我们的目的。50个片段的平均核苷酸多样性（π）在亚洲人中仅为0.061% ± 0.010%，在欧洲人中为0.064% ± 0.011%，但在非洲人中几乎是其两倍（0.115% ± 0.016%）。非洲人的多样性估计甚至高于非洲人和欧亚人之间的多样性估计（0.096% ± 0.012%）。根据常染色体非编码区的现有数据（总长度= 47，038 bp）和X连锁区（47，421 bp），我们估计非洲人、亚洲人、欧洲人以及非洲人和欧亚人之间常染色体区域的π值分别为0.105、0.070、0.069和0.097%，X连锁区域的相应值为0.088，0.042、0.053和0.082%。因此，非洲人之间的差异比欧亚人之间的差异稍大，欧亚人的遗传多样性在很大程度上是非洲人的一个子集，支持人类进化的非洲模型。显然，在研究π或SNP密度时，必须指定采样个体的地理来源。
The worldwide pattern of single nucleotide polymorphism (SNP) variation is of great interest to human geneticists, population geneticists, and evolutionists, but remains incompletely understood. We studied the pattern in noncoding regions, because they are less affected by natural selection than are coding regions. Thus, it can reflect better the history of human evolution and can serve as a baseline for understanding the maintenance of SNPs in human populations. We sequenced 50 noncoding DNA segments each ∼500 bp long in 10 Africans, 10 Europeans, and 10 Asians. An analysis of the data suggests that the sampling scheme is adequate for our purpose. The average nucleotide diversity (π) for the 50 segments is only 0.061% ± 0.010% among Asians and 0.064% ± 0.011% among Europeans but almost twice as high (0.115% ± 0.016%) among Africans. The African diversity estimate is even higher than that between Africans and Eurasians (0.096% ± 0.012%). From available data for noncoding autosomal regions (total length = 47,038 bp) and X-linked regions (47,421 bp), we estimated the π-values for autosomal regions to be 0.105, 0.070, 0.069, and 0.097% for Africans, Asians, Europeans, and between Africans and Eurasians, and the corresponding values for X-linked regions to be 0.088, 0.042, 0.053, and 0.082%. Thus, Africans differ from one another slightly more than from Eurasians, and the genetic diversity in Eurasians is largely a subset of that in Africans, supporting the out of Africa model of human evolution. Clearly, one must specify the geographic origins of the individuals sampled when studying π or SNP density.