安徽省汉族人群CYP2C19基因多态性的调查研究

目的探讨CYP2C19基因型检测方法及其在安徽省汉族人群中基因多态性的分布。方法在110名汉族健康人的外周血中,应用聚合酶链反应(PCR)-限制性片段长度多态性分析(RFLP)技术,进行CYP2C19等位基因分型研究。结果应用PCR-RFLP技术可准确区分CYP2C19基因型。在110名检测标本中,CYP2C19纯合子强代谢型、杂合子强代谢型和弱代谢型的发生率分别40%、49%和11%。结论PCR-RFLP方法检测CYP2C19基因型特异性高,成熟,稳定;中国安徽汉族人群存在CYP2C19的基因多态性,其弱代谢型的发生率与中国总体发生率基本一致。

Study on the CYP2C19 genetic polymorphism of Han Chinese in Anhui province

Aim To investigate the determination of CYP450 2C19 genotype status(CYP2C19m1 and CYP2C19m2) and the its distribution of Han healthy subjects in Anhui Province.Methods The CYP2C19 genotype of 110 Han healthy subjects were determined by the polymerase chain reaction-restriction fragment length polymorphism method(PCR-RFLP).Results The PCR-RFLP can detect the CYP2C19 genotype accurately.The frequence of CYP2C19 homozygous extensive metabolism,heterozygous extensive metabolism and poor metabolism in 110 Chinese subjects was 40%,49% and 11%,respectively.Conclusion The PCR-RFLP is a stable and high specificity method.The frequence of CYP2C19 poor metabolism coincides with its frequence of Chinese population.