An apportionment of human DNA diversity
An apportionment of human DNA diversity
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DOI：
10.1073/pnas.94.9.4516
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发表时间：
1997-04-29
影响因子：
11.1
通讯作者：
CavalliSforza, LL
中科院分区：
文献类型：
--
作者：
Barbujani, G;Magagni, A;CavalliSforza, LL
人们常常想当然地认为，人类被划分为相当同质的群体或种族，而这些群体或种族之间的生物学差异很大。对等位基因频率的研究并不支持这种观点，但它们也不足以排除这种可能性。我们分析了世界16个人群的109个DNA标记，即30个微卫星位点和79个多态限制性内切位点（限制性片段长度多态性位点）的分子多样性。通过在群体细分的三个层次水平上划分遗传差异，我们发现同一群体成员之间的遗传差异占总数的81.4%，这与基于经典、蛋白质多态性等位基因频率的估计非常一致。即使在小群体群体中，遗传变异仍然很高，平均而言，微卫星和限制性片段长度多态性位点产生相同的估计。各大洲之间的差异约占人类分子多样性的1/10，这并不表明我们物种的种族细分反映了我们基因组的主要不连续性。
It is often taken for granted that the human species is divided in rather homogeneous groups or races, among which biological differences are large. Studies of allele frequencies do not support this view, but they have not been sufficient to rule it out either. We analyzed human molecular diversity at 109 DNA markers, namely 30 microsatellite loci and 79 polymorphic restriction sites (restriction fragment length polymorphism loci) in 16 populations of the world. By partitioning genetic variances at three hierarchical levels of population subdivision, we found that differences between members of the same population account for 81.4% of the total, which is in excellent agreement with estimates based on allele frequencies of classic, protein polymorphisms, Genetic variation remains high even within small population groups, On the average, microsatellite and restriction fragment length polymorphism loci yield identical estimates. Differences among continents represent roughly 1/10 of human molecular diversity, which does not suggest that the racial subdivision of our species reflects ang major discontinuity in our genome.