中国汉族和维吾尔族药物代谢酶CYP3A4、CYP2C9、CYP2C19、CYP2D6基因多态性分析

目的对中国汉族、维吾尔族健康人群CYP3A4、CYP2C9、CYP2C19、CYP2D6进行基因多态性分析,并对汉族和维吾尔族人群等位基因频率和基因型频率进行比较。方法聚合酶链反应一限制性片段长度多态性(PCR-RFLP)法对CYP3A4、CYP2C9、CYP2C19、CYP2D6进行分型。结果汉族、维吾尔族健康人群CYP3A4*5等位基因频率为0,CYP3A4*18等位基因频率分别为0.183 8、0.140 2;CYP2C9*2等位基因频率分别为0.011 0、0.095 8,CYP2C9*13等位基因频率分别为0、0.002 3;CYP2C19*2等位基因频率分别为0.386 0、0.324 8,CYP2C19*3等位基因频率分别为0.051 5、0.021 0;CYP2D6*10等位基因频率分别为0.573 5、0.224 3。结论本研究在汉族、维吾尔族健康人群中未发现CYP3A4*5等位基因。汉族、维吾尔族健康人群CYP3A4*18、CYP2C9*13、CYP2C19*2、CYP2C19*3等位基因频率差异均无统计学意义。维吾尔族健康人群CYP2C9*2等位基因频率远高于汉族(P<0.01);CYP2D6*10等位基因频率远低于汉族(P<0.01),存在民族差异。

Genetic polymorphism analysis of cytochrome CYP3A4, CYP2C9, CYP2C19, CYP2D6 in Chinese Han and Uighur population

AIM To study the genotype distribution of cytochrome CYP3A4, CYP2Cg, CYP2C19, CYP2D6 in Chinese Han and Uighur population and to compare the allele and genotype frequencies between the Han and Uighur pop- ulatian. METHODS The CYP3A4, CYP2Cg, CYP2C19, CYP2D6 of Chinese Han and Uighur population were geno- typed by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）. RESULTS The allele fre- quencies of CYP3A4 s 5 in Hart and Uighur healthy population were 0, the allele frequencies of CYP3A4 s 18 in Hart and Uighur healthy population were 0. 183 8 and 0. 140 2; the allele frequencies of CYP2C9 s 2 in Han and Uighur healthy population were 0.011 0 and 0.095 8,the allele frequencies of CYP2C9 ＊ 13 were 0 and 0.002 3; the allele fre- quencies of CYP2C19 ＊ 2 in Hart and Uighur healthy population were 0. 386 0 and 0. 324 8, the allele frequencies of CYP2C19 ＊ 3 were 0.051 5 and 0.021 0; the allele frequencies of CYP2D6 ＊ 10 in Han and Uighur healthy population were 0.573 5 and 0.224 3, respectively. CONCLUSION The CYP3A4 ＊ 5 genotype is not found in this study. The study shows that there are no significant ethnic differences in the distribution of CYP3A4 ＊ 18, CYP2C9 s 13, CYP2C19 ＊ 2, CYP2 C19 ＊ 3 genotypes between Han and Uighur healthy population. For CYP2C9 ＊ 2, the frequency of Uighur healthy population is significantly higher than the Han, but for CYP2D6 ＊ 10, the frequency of Uighur healthy population is significantly lower than that of Han healthy population. The results of our study show that significant ethnic differences existed in the distribution of CYP2C9 ＊ 2 and CYP2D6 ＊ 10 genotypes among the different population.