人类基因组中的单倍型块与连锁不平衡

Haplotype blocks and linkage disequilibrium in the human genome.

作者信息

Wall Jeffrey D, Pritchard Jonathan K

机构信息

Department of Human Genetics, The University of Chicago, 920 East 58th Street, CLSC 507, Chicago, Illinois 60637, USA.

出版信息

Nat Rev Genet. 2003 Aug;4(8):587-97. doi: 10.1038/nrg1123.

DOI:10.1038/nrg1123

PMID:12897771

Abstract

There is great interest in the patterns and extent of linkage disequilibrium (LD) in humans and other species. Characterizing LD is of central importance for gene-mapping studies and can provide insights into the biology of recombination and human demographic history. Here, we review recent developments in this field, including the recently proposed 'haplotype-block' model of LD. We describe some of the recent data in detail and compare the observed patterns to those seen in simulations.

摘要

人们对人类和其他物种中的连锁不平衡（LD）模式及程度有着浓厚兴趣。表征连锁不平衡对于基因定位研究至关重要，并且能够为重组生物学和人类人口统计学历史提供见解。在此，我们回顾该领域的最新进展，包括最近提出的连锁不平衡“单倍型块”模型。我们详细描述了一些最新数据，并将观察到的模式与模拟中看到的模式进行比较。