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目的研究CYP2C19基因在苏州地区692例汉族人群中基因分布情况。方法应用焦磷酸测序技术对692例因心脑血管疾病而就诊的患者进行CYP2C19*1、*2和*3基因检测。结果本研究中CYP2C19*1、*2和*3基因频率分别是61.99%、33.45%和4.56%。野生纯合型(CYP2C19*1/*1)频率为38.58%,突变型CYP2C19*1/*2、CYP2C19*1/*3、CYP2C19*2/*2、CYP2C19*2/*3和CYP2C19*3/*3频率分别为41.04%、5.78%、11.56%、2.75%和0.29%。广泛代谢型、中间代谢型和弱代谢型频率分别是38.58%、46.82%和14.60%。结论该692例苏州汉族人群的CYP2C19*2、*3基因突变频率较高,且该基因的分布存在种族差异。
Objective To study the gene distribution of CYP2C19 gene in 692 Chinese Han population in Suzhou area. Methods Pyrosequencing was used to detect CYP2C19 * 1, * 2 and * 3 genes in 692 patients with cardiovascular and cerebrovascular diseases. Results The frequencies of CYP2C19 * 1, * 2 and * 3 genes in this study were 61.99%, 33.45% and 4.56%, respectively. The frequency of wild-type homozygotes (CYP2C19 * 1 / * 1) was 38.58% with the mutated CYP2C19 * 1 / * 2, CYP2C19 * 1 / * 3, CYP2C19 * 2 / * 2, CYP2C19 * 2 / * 3 and CYP2C19 * 3 / * 3 frequencies were 41.04%, 5.78%, 11.56%, 2.75% and 0.29%, respectively. Broad metabolic, intermediate metabolic and weak metabolic frequency were 38.58%, 46.82% and 14.60%. Conclusion The frequency of CYP2C19 * 2 and * 3 mutations in the 692 Han Chinese population is high, and the distribution of this gene is racially different.