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连锁不平衡——了解进化历程与描绘医学未来

Linkage disequilibrium--understanding the evolutionary past and mapping the medical future.

作者信息

Slatkin Montgomery

机构信息

Department of Integrative Biology, University of California, Berkeley, California 94720-3140, USA.

出版信息

Nat Rev Genet. 2008 Jun;9(6):477-85. doi: 10.1038/nrg2361.

Abstract

Linkage disequilibrium--the nonrandom association of alleles at different loci--is a sensitive indicator of the population genetic forces that structure a genome. Because of the explosive growth of methods for assessing genetic variation at a fine scale, evolutionary biologists and human geneticists are increasingly exploiting linkage disequilibrium in order to understand past evolutionary and demographic events, to map genes that are associated with quantitative characters and inherited diseases, and to understand the joint evolution of linked sets of genes. This article introduces linkage disequilibrium, reviews the population genetic processes that affect it and describes some of its uses. At present, linkage disequilibrium is used much more extensively in the study of humans than in non-humans, but that is changing as technological advances make extensive genomic studies feasible in other species.

摘要

连锁不平衡——不同基因座上等位基因的非随机关联——是构建基因组的群体遗传力量的敏感指标。由于在精细尺度上评估遗传变异的方法呈爆发式增长,进化生物学家和人类遗传学家越来越多地利用连锁不平衡来理解过去的进化和人口统计学事件,定位与数量性状和遗传性疾病相关的基因,并了解连锁基因集的联合进化。本文介绍连锁不平衡,回顾影响它的群体遗传过程,并描述其一些用途。目前,连锁不平衡在人类研究中的应用比在非人类研究中广泛得多,但随着技术进步使其他物种的广泛基因组研究成为可能,这种情况正在发生变化。

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