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人类群体的遗传结构。

Genetic structure of human populations.

作者信息

Rosenberg Noah A, Pritchard Jonathan K, Weber James L, Cann Howard M, Kidd Kenneth K, Zhivotovsky Lev A, Feldman Marcus W

机构信息

Molecular and Computational Biology, 1042 West 36th Place DRB 289, University of Southern California, Los Angeles, CA 90089, USA.

出版信息

Science. 2002 Dec 20;298(5602):2381-5. doi: 10.1126/science.1078311.

Abstract

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.

摘要

我们利用来自52个群体的1056名个体的377个常染色体微卫星位点的基因型研究了人类群体结构。个体间的群体内部差异占遗传变异的93%至95%;主要群体间的差异仅占3%至5%。然而,在不使用个体来源的先验信息的情况下,我们识别出了六个主要的遗传簇,其中五个对应于主要地理区域,以及通常对应于个体群体的亚簇。遗传簇与预先定义群体的总体一致性表明,自我报告的血统有助于评估流行病学风险,但并不能消除在基因关联研究中使用遗传信息的必要性。

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