摘 要：摘 要：基因组DNA是生物体各种生理、病理性状的物质基础，人类DNA序列变异约90％表现为单核苷酸多态性(single nucleotide polymorphisms, SNPs)，这是一种常见的遗传变异类型，在人类基因组中广泛存在，被认为是人类疾病易感性和药物反应的决定性因素。本文主要介绍了SNPs的分类及特点、人类基因组SNPs的研究现状、SNPs在实践中的应用，以及SNPs在遗传作图、医药、遗传易感性、个体化医疗等方面的研究前景，并探讨了当前SNPs研究中存在的问题。
关键词：人类基因组；单核苷酸多态性；遗传标记；个体化医疗
Abstract: Abstract: DNA is the substance foundation of pathological and physiological properties of all organisms. More than 90% of the DNA variations in genome are single nucleotide polymorphisms (SNPs), so SNP is the most common source of variation in human genome. SNPs result from single base differences between genome sequences, and are as the crucial factor of susceptibility and drug reaction. In this review, we focused on the features and sorts of SNPs, introduced the progress on SNPs in human genome, and the application of SNPs in medicine, genetic susceptibility, personalized medicines and so on. Questions relating to SNPs were discussed.
Key words: human genome; single nucleotide polymorphism; genetic marker; personalized medicines
