The distribution of human genetic diversity: A comparison of mitochondrial, autosomal, and Y-chromosome data
The distribution of human genetic diversity: A comparison of mitochondrial, autosomal, and Y-chromosome data
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DOI：
10.1086/302825
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发表时间：
2000-03-01
影响因子：
9.8
通讯作者：
Batzer, MA
中科院分区：
文献类型：
--
作者：
Jorde, LB;Watkins, WS;Batzer, MA
我们报告了一个比较全球的遗传变异之间的255个人使用常染色体，线粒体和Y染色体多态性。通过使用30个常染色体限制性位点多态性（RSP）、60个常染色体短串联重复多态性（STRP）、13个插入多态性和一个LINE-1：元件、611 bp的线粒体控制区序列和10个Y染色体多态性来评估变异。对这些数据的分析揭示了这种多样的遗传系统之间的实质一致性。除了常染色体RSPs，其中存在一个确定的偏见，所有系统显示更大的基因多样性在非洲人比欧洲人或亚洲人。在大多数系统中，非洲人也拥有最多的等位基因总数，以及最多的独特等位基因。常染色体系统的G（ST）值为11%-18%，mtDNA序列和Y染色体RSPs的G（ST）值高出2 - 3倍。这种差异是预期的，因为mtDNA和Y染色体的有效群体大小较低。Y染色体STR的值较低，反映出由于快速突变和遗传漂变，相对缺乏大陆人口结构。除了Y染色体STR和Alus外，非洲所有系统的G（ST）值都高于欧洲或亚洲。除了Y染色体STR外，所有系统在大陆内的种群之间的变异都小于大陆之间的变异。这些结果的一致性令人放心，并为现代人类起源于非洲提供了广泛的支持。
We report a comparison of worldwide genetic variation among 255 individuals by using autosomal, mitochondrial, and Y-chromosome polymorphisms. Variation is assessed by use of 30 autosomal restriction-site polymorphisms (RSPs), 60 autosomal short-tandem-repeat polymorphisms (STRPs), 13 Alu-insertion polymorphisms and one LINE-1: element, 611 bp of mitochondrial control-region sequence, and 10 Y-chromosome polymorphisms. Analysis of these data reveals substantial congruity among this diverse array of genetic systems. With the exception of the autosomal RSPs, in which an ascertainment bias exists, all systems show greater gene diversity in Africans than in either Europeans or Asians. Africans also have the largest total number of alleles, as well as the largest number of unique alleles, for most systems. G(ST) values are 11%-18% for the autosomal systems and are two to three times higher for the mtDNA sequence and Y-chromosome RSPs. This difference is expected because of the lower effective population size of mtDNA and Y chromosomes. A lower value is seen for Y-chromosome STRs, reflecting a relative lack of continental population structure, as a result of rapid mutation and genetic drift. Africa has higher G(ST) values than does either Europe or Asia for all systems except the Y-chromosome STRs and Alus. All systems except the Y-chromosome STRs show less variation between populations within continents than between continents. These results are reassuring in their consistency and offer broad support for an African origin of modern human populations.