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超越种族:迈向关于人类群体与基因变异的全基因组视角

Beyond race: towards a whole-genome perspective on human populations and genetic variation.

作者信息

Foster Morris W, Sharp Richard R

机构信息

Department of Anthropology, 455 W. Lindsey, Room 505C, University of Oklahoma, Norman, Oklahoma 73019, USA.

出版信息

Nat Rev Genet. 2004 Oct;5(10):790-6. doi: 10.1038/nrg1452.

Abstract

The renewed emphasis on population-specific genetic variation, exemplified most prominently by the International HapMap Project, is complicated by a longstanding, uncritical reliance on existing population categories in genetic research. Race and other pre-existing population definitions (ethnicity, religion, language, nationality, culture and so on) tend to be contentious concepts that have polarized discussions about the ethics and science of research into population-specific human genetic variation. By contrast, a broader consideration of the multiple historical sources of genetic variation provides a whole-genome perspective on the ways i n which existing population definitions do, and do not, account for how genetic variation is distributed among individuals. Although genetics will continue to rely on analytical tools that make use of particular population histories, it is important to interpret findings in a broader genomic context.

摘要

对特定人群基因变异的重新重视,最突出的例证是国际人类基因组单体型图计划(International HapMap Project),但由于长期不加批判地依赖基因研究中现有的人群分类,情况变得复杂起来。种族以及其他预先存在的人群定义(如族裔、宗教、语言、国籍、文化等)往往是有争议的概念,这些概念使关于特定人群人类基因变异研究的伦理和科学讨论两极分化。相比之下,对基因变异的多种历史来源进行更广泛的考量,能从全基因组角度看待现有群体定义在解释基因变异如何在个体间分布方面所起的作用以及未能起到的作用。尽管遗传学将继续依赖利用特定人群历史的分析工具,但在更广泛的基因组背景下解读研究结果很重要。

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