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单核苷酸多态性与连锁不平衡研究进展 被引量:16

Advance in the research of single nucleotide polymorphism and linkage disequilibrium
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摘要 单核苷酸多态性 (singlenucleotidepolymorphism ,SNP)是人类基因组中最广泛的多态性现象 ,也是造成个体差异的最主要的遗传原因 ,发现和研究SNP的工作在目前人类基因组研究中倍受关注。连锁不平衡是不同遗传标记间存在着的非随机组合现象 ,SNP作为极具优势的遗传标记为深入研究连锁不平衡、以及利用连锁不平衡进行群体遗传学的参数估计、基因精细定位、关联分析等提供了良好的先决条件。最近 。 Single nucleotide polymorphism (SNP) is the mostly popular polymorphism in human genome and mainly component of genetic difference among individuals. SNP, as perfectly genetic marker, was widely used for population parameters estimation, fine mapping of gene and association analysis. SNP discovery, application and related function research are important topics in genome and genetic research. Linkage disequilibrium(LD) is associated with alleles of closely linked genetic markers. Recently, developments in LD and SNP research will greatly facilitate to genetics research in nearly future.
出处 《基础医学与临床》 CSCD 北大核心 2004年第5期487-490,共4页 Basic and Clinical Medicine
基金 国家"8 6 3"科技攻关计划 (2 0 0 2BA711A10 )
关键词 单核苷酸多态性 连锁不平衡 研究进展 单倍域 关联分析 single nucleotide polymorphism, linkage disequilibrium, association analysis, haplotype block
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