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利用特定人群DNA标记进行种族归属估计。

Ethnic-affiliation estimation by use of population-specific DNA markers.

作者信息

Shriver M D, Smith M W, Jin L, Marcini A, Akey J M, Deka R, Ferrell R E

机构信息

Department of Human Genetics, University of Pittsburgh, PA 15235, USA.

出版信息

Am J Hum Genet. 1997 Apr;60(4):957-64.

Abstract

During the past 10 years, DNA analysis has revolutionized the determination of identity in a forensic context. Statements about the biological identity of two human DNA samples now can be made with complete confidence. Although DNA markers are very powerful for distinguishing among individuals, most offer little power to distinguish ethnicity or to support any statement about the physical characteristics of an individual. Through a search of the literature and of unpublished data on allele frequencies we have identified a panel of population-specific genetic markers that enable robust ethnic-affiliation estimation for major U.S. resident populations. In this report, we identify these loci and present their levels of allele-frequency differential between ethnically defined samples, and we demonstrate, using log-likelihood analysis, that this panel of markers provides significant statistical power for ethnic-affiliation estimation. In addition to their use in forensic ethnic-affiliation estimation, population-specific genetic markers are very useful in both population- and individual-level admixture estimation and in mapping genes by use of the linkage disequilibrium created when populations hybridize.

摘要

在过去十年中,DNA分析彻底改变了法医鉴定中的身份确定方式。现在可以完全自信地对两个人类DNA样本的生物学身份做出陈述。尽管DNA标记在区分个体方面非常强大,但大多数标记在区分种族或支持有关个体身体特征的任何陈述方面能力有限。通过检索文献和未发表的等位基因频率数据,我们确定了一组特定人群的遗传标记,这些标记能够对主要美国居民群体进行可靠的种族归属估计。在本报告中,我们识别出这些基因座,并呈现它们在按种族定义的样本之间的等位基因频率差异水平,并且我们使用对数似然分析证明,这组标记为种族归属估计提供了显著的统计效力。除了用于法医种族归属估计外,特定人群的遗传标记在群体和个体层面的混合估计以及通过利用群体杂交时产生的连锁不平衡来绘制基因图谱方面也非常有用。

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