单核苷酸多态性的研究进展  

The Research Development of Single Nucleotide Polymorphism

作　　者：杜玮南[1] 孙红霞[1] 方福德[1] 

机构地区：[1]中国医学科学院中国协和医科大学基础医学研究所医学分子生物学国家重点实验室,北京100005

出　　处：《中国医学科学院学报》2000年第4期392-394,共3页Acta Academiae Medicinae Sinicae

摘　　要：单核苷酸多态性 (SNP)是指在基因组水平上由单个核苷酸的变异所引起的一种 DNA序列多态性。SNP现象在人类基因组中广泛存在 ,并具有很高的信息含量。目前已发现数万个 SNP标记 ,且有多个生物医学网站开辟了专页对其加以介绍。随着对 SNP检测和分析技术的进一步发展 ,尤其是与 DNA芯片等技术的结合 ,它已成为第三代遗传标记 ,初步满足对疾病相关基因定位研究的需要 ,尤其是对多基因遗传病高精度基因定位的要求 ,并将最终取代目前最常用的微卫星标记技术进入基因应用研究的领域。Single nucleotide polymorphism(SNP)is a novel set of polymorphism based on the single nucleotide variations at the genomic level,which distributes widely across the human genome and has high polymorphism information content (PIC).Now,tens of thousands SNPs have been discovered among the human genome and are introduced by many biological medicine networks.With the development of identification and analysis technique for SNP,especially the combination with DNA chips,they,as the third generation of genetic markers,are gradually fitable for fine scale mapping of diseases,especially the complex diseases susceptibility genes and will eventually substitute for the most commonly used microsatellite markers presently.

关 键 词：单核苷酸多态性 遗传标记 基因研究 DNA芯片 

分 类 号：Q343.1[生物学—遗传学] Q523