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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。

相似文献

[1]
Haplotype blocks and linkage disequilibrium in the human genome.

Nat Rev Genet. 2003-8

[2]
Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

Hum Mol Genet. 2004-12-15

[3]
Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC.

Hum Mol Genet. 2003-3-15

[4]
A worldwide survey of haplotype variation and linkage disequilibrium in the human genome.

Nat Genet. 2006-11

[5]
Navigating the HapMap.

Brief Bioinform. 2006-9

[6]
High-resolution haplotype structure in the human genome.

Nat Genet. 2001-10

[7]
Patterns of linkage disequilibrium in the human genome.

Nat Rev Genet. 2002-4

[8]
The effect of haplotype-block definitions on inference of haplotype-block structure and htSNPs selection.

Mol Biol Evol. 2005-1

[9]
Increased gene coverage and Alu frequency in large linkage disequilibrium blocks of the human genome.

Genet Mol Res. 2007-12-11

[10]
Variation of gene-based SNPs and linkage disequilibrium patterns in the human genome.

Hum Mol Genet. 2004-8-1

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