单核苷酸多态性研究及其对人类医学的影响

随着人类基因组序列测定的完成，基因组序列变异研究，特别是单核苷酸多态性(single nucleotide polymorphism，SNP)研究，成为新一轮基因组科学的研究重点，不断发展的高通量基因分型技术更使得人类对复杂性状疾病的理解和研究成为可能。由于SNP具有数量多、分布广、密度大、突变率低等特点，因此在人群多样性、疾病基因定位和药物基因组学的研究中都发挥了重要的作用。在此，本文尝试对目前国际上SNP计划的发展情况、以及在复杂疾病基因定位克隆研究和药物基因组学研究等方面的应用进行简要综述。

SNP and its impact on human medicine

With the completion of the whole human genome sequencing, the research of genome sequences mutation, especially of the single nucleotide polymorphism (SNP), has been addressed as the new genome science projects. The developing high-throughput genotyping technologies allows us to unravel the complex genetic traits. Because of its characteristics of large quantity, high density, wide distribution and low mutations, SNP plays a key role in the projects of population variation, disease candidate genes identification and pharmacogenomics. Here, we present a review of international current trend of SNP studies and its application in the researches of complicated diseases related genes identification and pharmacogenomics.