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利用常见单核苷酸多态性构建的连锁不平衡图谱,对于首轮疾病关联筛查很有用。

Linkage disequilibrium maps constructed with common SNPs are useful for first-pass disease association screens.

作者信息

Taillon-Miller P, Saccone S F, Saccone N L, Duan S, Kloss E F, Lovins E G, Donaldson R, Phong A, Ha C, Flagstad L, Miller S, Drendel A, Lind D, Miller R D, Rice J P, Kwok P-Y

机构信息

Department of Dermatology, Washington University School of Medicine, St. Louis, MO 63110, USA.

出版信息

Genomics. 2004 Dec;84(6):899-912. doi: 10.1016/j.ygeno.2004.08.009.

Abstract

To develop an efficient strategy for mapping genetic factors associated with common diseases, we constructed linkage disequilibrium (LD) maps of human chromosomes 5, 7, 17, and X. These maps consist of common single nucleotide polymorphisms at an average intermarker distance of 100 kb. The genotype data from these markers in a panel of American samples of European descent were analyzed to produce blocks of markers in strong pair-wise LD. Power calculations were used to guide block definitions and predicted that high-level LD maps would be useful in initial genome scans for susceptibility alleles in case-control association studies of complex diseases. As anticipated, LD blocks on the X chromosome were larger and covered more of the chromosome than those found on the autosomes.

摘要

为了制定一种有效的策略来绘制与常见疾病相关的遗传因子图谱,我们构建了人类5号、7号、17号染色体以及X染色体的连锁不平衡(LD)图谱。这些图谱由平均标记间距为100 kb的常见单核苷酸多态性组成。对一组欧洲裔美国样本中这些标记的基因型数据进行分析,以生成处于强成对LD状态的标记块。通过功效计算来指导块的定义,并预测高水平的LD图谱将有助于在复杂疾病的病例对照关联研究中对易感性等位基因进行初步全基因组扫描。正如预期的那样,X染色体上的LD块比常染色体上的更大,覆盖的染色体区域更多。

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