等位基因特异性扩增法在SNP分型中的研究进展

Recent Development of Allele-specific Amplification in SNP Genotyping

单核苷酸多态性(Single nucleotide polymorphism,SNP)因其分布广、数量大而在疾病研究特别是多基因疾病研究领域显示出巨大的优势,因此临床研究和诊断需要一种快速、简易、准确、经济的SNP检测方法。近年来,等位基因特异性扩增法(Allele-specific polymerase chain reaction,AS-PCR)因其操作简单、成本低廉和结果准确而在SNP检测领域显示了巨大应用潜力,并受到越来越多相关科研和医务工作者的关注。系统的对AS-PCR技术在SNP分型中的研究进展和应用作了全面综述,对其发展方向和应用前景进行了展望。认为通过与其他检测平台联合,AS-PCR可促进SNP检测技术由实验室向临床应用转化的进程,为诸多疑难疾病的防治提供新的思路和参考。

Single nucleotide polymorphism（SNP）shows huge advantages in disease research, especially in the multi-gene diseases because of its wide distributions and large quantities. Clinical diagnosis and research need a fast, simple, accurate and economical method to detect SNP. In recent years, Allele-specific polymerase chain reaction（AS-PCR）have been concerned by more and more researchers and medical workers due to its simplicity, low cost, accuracy and a great potential. Based on the reasearch results, this paper reviewed the latest development and applications of As-PCR in genotyping as well as its prospects. AS-PCR combined with other detection platforms, could promote the conversion process of SNP detection to clinical applications and provide new ideas and references for prophylaxis and treatment in various difficult diseases.