THE STRUCTURE OF HUMAN MITOCHONDRIAL-DNA VARIATION
THE STRUCTURE OF HUMAN MITOCHONDRIAL-DNA VARIATION
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DOI：
10.1007/bf02102807
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发表时间：
1991-12-01
影响因子：
3.9
通讯作者：
WALLACE, DC
中科院分区：
文献类型：
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作者：
MERRIWETHER, DA;CLARK, AG;WALLACE, DC
对来自62个地理样本的3065名人类线粒体DNA（mtDNA）进行限制性内切酶分析，鉴定出149个单倍型和81个多态位点。这些数据被用来测试人类物种进化史的几个方面。描述所有单倍型的遗传相关性的树状图显示，非洲本土人口具有最大的多样性，并与来自各种来源的证据相一致，表明我们物种的非洲起源。数据还表明，从整个样本中随机抽取的两个个体在mtDNA核苷酸位点上的差异约为0.4%，这略高于先前的估计。人类mtDNA的群体间异质性（G（ST）= 0.351 +/- 0.025）也高于核DNA（G（ST）= 0.12）。此外，对位点之间的中间水平的连锁不平衡的虚拟的情况下是一致的，没有遗传重组和地方的突变率的限制。对mtDNA变异的选择中性的检验，包括Ewens-Watterson检验和Tajima检验，表明了与纯化选择一致的方向上的偏离，但这种偏离更可能是由于人口的快速增长和变异的地理异质性。缺乏一个很好的适合中性的问题，估计时间的聚结从人类mtDNA数据。
Restriction analysis of mitochondrial DNA (mtDNA) of 3065 humans from 62 geographic samples identified 149 haplotypes and 81 polymorphic sites. These data were used to test several aspects of the evolutionary past of the human species. A dendrogram depicting the genetic relatedness of all haplotypes shows that the native African populations have the greatest diversity and, consistent with evidence from a variety of sources, suggests an African origin for our species. The data also indicate that two individuals drawn at random from the entire sample will differ at approximately 0.4% of their mtDNA nucleotide sites, which is somewhat higher than previous estimates. Human mtDNA also exhibits more interpopulation heterogeneity (G(ST) = 0.351 +/- 0.025) than does nuclear DNA (G(ST) = 0.12). Moreover, the virtual absence of intermediate levels of linkage disequilibrium between pairs of sites is consistent with the absence of genetic recombination and places constraints on the rate of mutation. Tests of the selective neutrality of mtDNA variation, including the Ewens-Watterson and Tajima tests, indicate a departure in the direction consistent with purifying selection, but this departure is more likely due to the rapid growth of the human population and the geographic heterogeneity of the variation. The lack of a good fit to neutrality poses problems for the estimation of times of coalescence from human mtDNA data.