中国汉族人群CYP2C9常见多态性位点的检测及其与国外其他人群的比较研究  

Polymorphism Analysis of CYP2C9 Common Alleles in Han Chinese.

作　　者：徐仁爱[1] 戴大鹏[2] 胡利明[1] 杨莉萍[3] 胡国新[1] 蔡剑平[2] 

机构地区：[1]温州医学院药学院药理教研室,325035 [2]卫生部北京医院/卫生部北京老年医学研究所/卫生部老年医学重点实验室,100730 [3]卫生部北京医院药学部,100730

出　　处：《医学研究杂志》2011年第6期27-30,共4页Journal of Medical Research

基　　金：科技部重大新药创制心脑血管疾病新药临床评价技术平台研究(2008ZX09312-005)

摘　　要：目的检测中国汉族人群细胞色素P450 2C9(CYP2C9)常见多态性位点的等位基因,为药物基因组学研究提供理论依据。方法用聚合酶链反应产物直接测序和基因克隆测序法对2127例中国汉族人群CYP2C9基因常见多态性位点CYP2C9*1、CYP2C9*2和CYP2C9*3等位基因进行检测,明确其在中国汉族人群中的等位基因及基因型频率分布,并与国外不同人群基因多态性进行比较研究。结果中国汉族人群CYP2C9基因常见等位基因CYP2C9*1、CYP2C9*2和CYP2C9*3的等位基因频率分别为96.94%、0.14%、2.92%,常见基因型CYP2C9*1/*1、CYP2C9*1/*2、CYP2C9*1/*3、CYP2C9*3/*3的基因型频率分别为94.12%、0.28%、5.36%、0.24%。结论中国汉族人群CYP2C9基因中以CYP2C9*1等位基因为最常见,CYP2C9*2和CYP2C9*3是中国汉族人群罕见等位基因;中国人群CYP2C9基因的等位基因频率与日本人群相近,与法国、西班牙和意大利等欧洲人群差异有统计学意义,该研究结果将为我国的临床药物基因组学研究提供有价值的理论依据。Objective To investigate the genetic polymorphism of CYP2C9 in Han Chinese population and compare the distribution profile of CYP2C9 polymorphism with that of other races. Methods PCR combined with DNA sequencing method was used to analyze the sequences of CYP2C9 in 2127 healthy people from Han population in China. Results The allele frequencies of CYP2C9 ＊ 1, CYP2C9 ＊ 2and CYP2C9 ＊ 3 were 96.94% , 0. 14% , 2.92% respectively. The genotype frequencies of CYP2C9 ＊ 1/＊ 1, CYP2C9 ＊ 1/＊ 2, CYP2C9 ＊ 1/＊ 3 and CYP2C9 ＊ 3/＊ 3 were 94.12% , 0.28% , 5.36% , and 0.24% respectively. Conclusion Our results showed that the distribution profile of CYP2C9 common alleles in Han population is similar to that of population in Japanese, whereas it is significantly different from that of French, Spain and Italian populations. The present data resulted from our study will be useful for the clinical drug therapy, especially for individual medicine of Han Chinese population.

关 键 词：CYP2C9 基因多态性 基因分型 

分 类 号：R915[医药卫生—微生物与生化药学]