河南汉族人群CYP3A4*1G和CYP3AP1*3多态性及连锁不平衡分析  

Distribution characteristics and linkage disequilibrium analysis of CYP3A4*1G and CYP3AP1*3 polymorphisms in He-nan Han population of China

作　　者：任欣伟[1] 杨卫红[1] 李彦鹏[1] 蔡要欣[1] 贾敏[1] 张莉蓉[1] 

机构地区：[1]郑州大学基础医学院药理学教研室,河南郑州450001

出　　处：《中国新药与临床杂志》2010年第8期602-605,共4页Chinese Journal of New Drugs and Clinical Remedies

基　　金：河南省杰出青年基金资助项目(074100510020)

摘　　要：目的探讨中国河南省汉族人群中CYP3A4*1G和CYP3AP1*3多态性分布及连锁不平衡关系。方法采用聚合酶链式反应与限制性内切酶片段长度多态性技术,对324例河南汉族人群CYP3A4*1G和CYP3AP1*3多态性进行分析。结果 CYP3A4*1G(20230G>A)频率为27.8%,GG、GA和AA基因型频率分别为50.3%、43.8%和5.9%;CYP3AP1*3(-44G>A)频率为75.2%,GG、GA和AA基因型分别为54.9%、40.5%和4.6%。CYP3A4*1G和CYP3AP1*3的等位基因频率分布符合Hardy-Weinberg平衡定律(P>0.05)。LDA连锁不平衡分析发现CYP3A4*1G和CYP3AP1*3具有连锁不平衡关系(r2=0.36,D'=0.647 4,P<0.01)。结论 CYP3A4*1G和CYP3AP1*3等位基因在河南汉族人群中具有较高的频率,CYP3A4*1G和CYP3AP1*3之间具有连锁不平衡关系。AIM To investigate the distribution characteristics and linkage disequilibrium of CYP3A4＊IG and CYP3AP1＊3 polymorphisms in Chinese Hart population of He-nan province. METHODS CYP3A4＊1G and CYP3AP1＊3 polymorphisms of 324 subjects were detected by polymerase chain reaction-restriction fragment length polymorphism method. RESULTS The frequency of CYP3A4＊1G （20230G 〉 A） was 27.8%, and the frequencies of GG, GA and AA genotypes were 50.3%, 43.8% and 5.9%, respectively. The frequency of CYP3AP1＊3 （-44G 〉 A） was 75.2%, and the frequencies of GG, GA and AA genotypes were 54.9%, 40.5% and 4.6%, respectively. The allele frequencies of CYP3A4＊1G and CYP3AP1＊3 were in Hardy-Weinberg equilibrium （P 〉 0.05） . Linkage disequilibrium was found between CYP3A4＊1G and CYP3AP1＊3 （r2 = 0.36,D＇ = 0.647 4, P 〈 0.01） . CONCLUSION CYP3A4＊1G and CYP3AP1＊3 have high allele frequencies. There is linkage disequilibrium between CYP3A4＊1G and CYP3AP1＊3 in Chinese Han population of He-nan province.

关 键 词：细胞色素P-450 CYP3A 细胞色素P-450 CYP3A4＊1G 细胞色素P-450 CYP3AP1＊3 多态性 单核苷酸 连锁不平衡 

分 类 号：R968[医药卫生—药理学]