核酸单链构象多态性技术研究进展

Progress of Single Strand Conformation Polymorphism Analysis

单链构象多态性(SSCP)技术能分析核酸的单碱基突变,是出现最早、应用较广、备受关注的等位基因分型方法,在待检测基因的PCR制备和电泳分离条件优化方面的应用受到了重视,而与毛细管电泳相结合,使该技术具有高通量并行化处理的特点。综述了单核苷酸构象多态性分析技术及其研究进展,介绍了SSCP技术的原理、PCR产物的制备和DNA样品变性处理,重点介绍了电泳的各种操作条件和检测系统。

Analysis of genetic mutants and variants at molecular level is becoming an increasingly crucial method for diagnosis of genetic diseases and development of pharmaceuticals. Single strand conformation polymorphism (SSCP) for genotyping, based on detection of single base ~mutation in allele gene, was promising of wider application. In this review, the principle of SSCP and its recent advances in analyte genes amplified by polymerase chain reaction (PCR) and in ~optimal operation parameters of electrophoresis were introduced and discussed. Combined with following capillary electrophoresis, SSCP is characterized with highthroughput and parallel manipulation.