单核苷酸多态性检测技术研究进展

Progress in Technologies for Single Nucleotide Polymorphism Detection

单核苷酸多态性(SNP)是个体中最普遍的遗传变异,主要是指在基因组水平上由单个核苷酸的变异所引起的DNA序列多态性。SNP作为第三代遗传标记,具有遗传稳定性强、数量多、分布广等特点,被广泛应用于群体遗传学、疾病相关基因定位研究中,并在疾病的早期诊断、预防、治疗,研究遗传因素对药物代谢的影响,指导药物临床使用等方面发挥重要的作用。鉴于此,建立适合各级平台应用的准确、高效、稳定的SNP分型技术十分必要。目前SNP检测与分析技术众多,在原理上差别很大,适用范围也不尽相同。本文综述了目前临床应用较广的SNP分型方法,简要介绍了各种技术的检测原理和优缺点,并对SNP分型技术前景进行了展望。

Single nucleotide polymorphism（SNP） caused by the single nucleotide variation is the most commongenetic variation at the genome level. As the third generation of genetic marker, SNP is widely distributed in thehuman genome and stably inherited. SNP is extensively used in the population genetics, disease associated geneslocation, disease early-diagnosis,prevention,treatment and pharmacogenomics. Therefore, it is necessary to establishaccurate, efficient and stable SNP genotyping technologies appropriate for its applications. At present, there aremany SNP detection and analysis technologies based on different detection principles and they are developed fordifferent applications. This paper briefly introduces the principle, advantages and disadvantages of each SNP geno-typing method. Moreover, the perspective of the SNP genotyping in the future is discussed.