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两个高度多态性微卫星之间的连锁不平衡。

Linkage disequilibrium between two highly polymorphic microsatellites.

作者信息

Sherrington R, Melmer G, Dixon M, Curtis D, Mankoo B, Kalsi G, Gurling H

机构信息

Academic Department of Psychiatry, University College and Middlesex School of Medicine, London, England.

出版信息

Am J Hum Genet. 1991 Nov;49(5):966-71.

Abstract

The PCR was used to amplify genomic DNA from two microsatellite (dC-dA)n.(dG-dT)n sequences found to be present in the same chromosome 5 genomic clone. Analysis of the haplotype frequencies of these two interspersed repeat sequences in individuals showed strong allelic association or linkage disequilibrium. Six alleles were found for p599 (CA)n with a PIC value of 0.71 and 8 alleles were seen for lambda 599 (CA)n with a PIC value of 0.74. The two microsatellites are separated by approximately 7 kb. Analysis of the length variations for the two microsatellites showed that they were positively correlated, a finding that has no obvious explanation. The strong linkage disequilibrium found demonstrates stability during evolution for these novel markers. Therefore they should be powerful new tools for studying genetic drift and admixture of populations. Furthermore, disequilibrium data from microsatellites can be used in the fine mapping and cloning of disease genes.

摘要

聚合酶链反应(PCR)用于从在同一5号染色体基因组克隆中发现的两个微卫星(dC-dA)n·(dG-dT)n序列扩增基因组DNA。对个体中这两个散布重复序列的单倍型频率分析显示出强烈的等位基因关联或连锁不平衡。p599(CA)n发现了6个等位基因,多态信息含量(PIC)值为0.71;lambda 599(CA)n发现了8个等位基因,PIC值为0.74。这两个微卫星相隔约7 kb。对这两个微卫星的长度变异分析表明它们呈正相关,这一发现尚无明显解释。所发现的强烈连锁不平衡表明这些新型标记在进化过程中具有稳定性。因此,它们应是研究群体遗传漂变和混合的强大新工具。此外,微卫星的不平衡数据可用于疾病基因的精细定位和克隆。

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