细胞色素P450 2C19单碱基突变位点CYP2C19m1的分析

Analysis of single base mutation of cytochrome P450 2C19 allele CYP2C19m1

目的:CYP2C19ml是引起CYP2C19酶活性缺陷的主要等位基因,有83％左右的慢代谢者含有CYP2C19ml等位基因,本文试图建立一步PCR测定CYP2C19ml等位基因的方法。方法:根据等位基因特异扩增(ASA)原理设计两对分别特异扩增野生型等位基因和突变型等位基因的引物,建立了一步PCR测定CYP2C19ml等位基因的方法。结果:对39位随机受试者进行了基因分型研究,发现3位CYP2C19ml纯合子、18位CYP2C19ml杂合子,其余18位为野生型纯合子。结论:说明效法能够用于测定CYP2C19ml等住基因,并且证明该法具有简便、快速和污染少的优点。

OBJECTIVE: Cytochrome P450 2C19 enzyme deficiency was mainly caused by CYP2C19ml allele.It was said more than 83 % of poor metabolizers were due to the existence of this allele. This study was aimed to set up an efficient PCR procedure to analyse this allele.METHODS:The principle of allele- specific amplification was used to build up the PCR method of detecting the single base mutation of CYP2C19ml. RESULTS:This method was employed to genotype 39 random Chinese volunteers.3 CYP2C19ml homozygotes and 18 CYP2C19ml heterozygotes were found.CONCLUSION: This method was proved to be more fast, easier and less contanimation.