Genetic structure of human populations

Genetic structure of human populations
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DOI:
10.1126/science.1078311
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发表时间:
2002-12-20
期刊:
影响因子:
56.9
通讯作者:
Feldman, MW
Feldman, MW
中科院分区:
综合性期刊1区
文献类型:
--
作者:
Rosenberg, NA;Pritchard, JK;Feldman, MW

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我们使用来自52个群体的1056个个体的377个常染色体微卫星位点的基因型研究了人类群体结构。个体间的种群内差异占遗传变异的93%至95%;主要群体之间的差异仅占3%至5%。尽管如此,在没有使用有关个体起源的先验信息的情况下,我们确定了六个主要的遗传聚类,其中五个对应于主要的地理区域,而子聚类通常对应于个体种群。遗传和预定义的人群的一般协议表明,自我报告的祖先可以促进流行病学风险的评估,但不排除需要使用遗传信息的遗传关联研究。
We studied human population structure using genotypes at 377 autosomal microsatellite loci in 1056 individuals from 52 populations. Within-population differences among individuals account for 93 to 95% of genetic variation; differences among major groups constitute only 3 to 5%. Nevertheless, without using prior information about the origins of individuals, we identified six main genetic clusters, five of which correspond to major geographic regions, and subclusters that often correspond to individual populations. General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.