中国大陆汉族人群CYP3 A4基因变异分析  

Genetic Polymorphism of human CYP3A4 gene in population of Han nationality in China

作　　者：黄敏[1] 汪晖[1] 平洁[1] 刘志苏[2] 

机构地区：[1]武汉大学基础医学院药理学系 [2]武汉大学中南医院普外科

出　　处：《中国临床药理学与治疗学》2006年第3期300-304,共5页Chinese Journal of Clinical Pharmacology and Therapeutics

基　　金：武汉大学预研基金资助项目(№301270050);教育部留学人员回国启动基金(2004)

摘　　要：目的:研究中国大陆汉族人群中细胞色素P4503A4(CYP3A4)的基因变异及其分布。方法:140例血样本来自中国大陆25个省份的汉族人口,用聚合式酶链反应-非放射性单链构象多态性(PCR-SS-CP)-直接测序方法检测CYP3A4基因的变异。结果:中国大陆汉族人群存在CYP3A4基因内含子2T4127G变异。140例人群中有31人存在此变异,变异频率为22.1%。中国大陆汉族人群未发现CYP3A4基因13个外显子的变异。结论:中国大陆汉族人群CYP3A4基因存在内含子2的多态性分布,其基因变异不同于其他种族。AIM： To investigate the distribution of cytochrome P450 3A4 （CYP3A4） genetic polymorphism in population of Han nationality of mainland in China. METHODS： Genomic DNA was extracted from 140 mainland Chinese peripheral blood, then polymerase chain reaction-single strand conformation polymorphism （PCRSSCP） combined with silver staining and DNA sequencing were used to detect mutations in CYP3A4 gene. RESULTS： In the population, a novel mutation in intron 2 of CYP3A4 gene was detected in 31 out of 140 persons. The frequency of intronic mutation in CYP3A4 gene was 22.1%. No mutation was found either in 5＇ proximal regulating region or in 13 exons of CYP3A4 gene. CONCLUSION： There is a novel mutant allele in CYP3A4 gene in population of Han nationality of mainland in China. It is different from those in other ethnic groups.

关 键 词：细胞色素P4503A4 基因变异 PCR-SSCP DNA测序 汉族 

分 类 号：R966[医药卫生—药理学]