单核苷酸多态性及其在生物医学中的应用进展

单核苷酸多态性 (SNP)是继限制性片段长度多态性(RFLP)和微卫星多态性标记之后的新一代遗传标记系统 ,具有密度高、遗传稳定、分析易自动化等特点。SNP可通过电泳、PCR、酶切、杂交及测序等方法检测 ,已广泛应用于基因作图、群体遗传学、疾病相关性分析及药物研究等领域。本文综述了近几年SNP在生物医学领域的应用进展。

Detection techniques and recent advances in biomedical application of single nucleotide polymorphisms

Single nucleotide polymorphism (SNP) is a new genetic marker system following RFLP and microsatellite polymorphism. It has been shown to have the characteristics of high-density, inheritance stability and facilitation in analysis automation. SNP can be detected by electrophoresis, PCR, restriction analysis, hybridization and sequencing, and can be used extensively in gene mapping, population genetics, diseasecorrelativity analysis and drug research. The concept, characteristics and detection techniques of the SNP are introduced and,in addition, its recent advances and applications in biomedicine are discussed in this review.