中国汉族和回族药物代谢酶细胞色素P450(CYP)3A4、CYP2C9、CYP2C19及CYP2D6基因多态性分析

目的对中国汉族、回族健康人群细胞色素P450(CYP)3A4、CYP2C9、CYP2C19及CYP2D6进行基因多态性分析,比较汉族和回族健康人群基因表型和基因频率分布。方法多聚酶链反应-限制性片段长度多态性(PCR-RFLP)法,对300名志愿者的几种基因进行分型。结果汉族、回族CYP3A4*5等位基因频率均为0,CYP3A4*18等位基因频率分别为0.18,0.19;汉族、回族CYP2C9*2等位基因频率分别为0.01,0.05;CYP2C9*13等位基因频率均为0;汉族、回族CYP2C19*2等位基因频率分别为0.39,0.50;CYP2C19*3等位基因频率分别为0.05,0.05;汉族、回族CYP2D6*10等位基因频率分别为0.57,0.39。结论汉族、回族健康人群的CYP3A4*18、CYP2C9*2、CYP2C19*2、CYP2C19*3均没有显著性差异;在汉族、回族健康人群中未发现CYP3A4*5和CYP2C9*13突变;汉族、回族CYP2D6*10等位基因频率有显著性差异(P<0.01);回族人群CYP2D6中速代谢型(*10/*10)频率为13.4%,明显低于汉族的33.1%(P<0.01)。

Genetic polymorphism analysis of cytochrome P450 (CYP)3A4, CYP2C9,CYP2C19 and CYP2D6 in Chinese Han and Hui population

Objective To study the genotype distribution of cytochrome P450(CYP)3A4,CYP2C9,CYP2C19,CYP2D6 in Han and Hui Chinese population and compared with the both Han and Hui with genotype and genetic frequency.MethodsCYP3A4,CYP2C9,CYP2C19,CYP2D6 of Han and Hui Chinese population were genotyped by PCR-RFLP.ResultsThe allele frequencies of CYP3A4*5 in Han and Hui are 0,the allele frequencies of CYP3A4*18 in Han and Hui are 0.18,0.19.The allele frequencies of CYP2C9*2 in Han and Hui are 0.01,0.05,the allele frequencies of CYP3A4*5 in are 0.The allele frequencies of CYP2C19*2 in Han and Hui are 0.39,0.50,the allele frequencies of CYP2C19*3 are 0.05,0.05.The allele frequencies of CYP2D6*10 in Han and Hui are 0.57,0.39.ConclusionThe study shows that there are no significant ethnic differences in the distribution of CYP3A4*18,CYP2C9*2,CYP2C19*2,CYP2C19*3 genotypes in Han and Hui.The CYP3A4*5 and CYP2C9*13 genotypes are not found in this study.There is significant ethnic differences in the distribution of CYP2D6*10 in Han and Hui(P<0.01).The frequency of intermediate metabolizers in Hui 13.43% is lower than Han(33.10%)(P<0.01).