海南黎族人群细胞色素P450 2C19基因多态性的研究

目的研究细胞色素P450 2C19（CYP2C19）在海南黎族人群中的遗传多态性征。方法应用限制性片段长度多态性分析法（PCR—RFLP）对165名黎族健康志愿者进行了CYP2C19基因多态性分析。结果wt、m1和m2三种等位基因在海南黎族健康人群中的发生频率分别为61％、36％和3％。其中wt／wt基因型的发生率为38％（62／165），m1／wt和m2／wt基因型的发生率分别为42％（70／165）和5％（8／165），m1／m1和m1／m2基因型的发生率分别为14％（23／165）和1％（2／165），未发现m2／m2基因型个体。结论海南黎族人群的CYP2C19的基因多态性与其它民族相比具有一定的差异性。

Genetic polymorphism of cytochrome P450 2C19 in Li population of Hainan Island

Objective To assess the genotype pattern distribution of cytochrome P450 2C19 in Li ethnic population of Hainan Island. Methods One hundred and sixty-five unrelated, healthy Li Nationality subjects, including 79 males and 86 females,aged from18 to 25, were genotyped for CYP2C19 by polymerase chain reaction (PCR) and restricted fragment length polymorphism (RFLP). Results The frequency of wt,,m1 and m2 alleles were 0.61, 0.36 and 0.03, respectively. 62 subjects were homozygous for wild-type (wt/wt), 23 subjects were homozygous of m1 (m1/m1), and 80 subjects were heterozygous of m1 or m2 (wt/m1, wt/m2 or m1/m2), no homozygous genotype for m2 (m2/m2). Conclusion The genotyping of CYP2C19 in Li Nationality population of Hainan island is diverse compared with other nationality population.