CYP17和CYP3A4基因多态性与成都地区妊娠期肝内胆汁淤积症关系的研究  

Association Between Polymorphisms of CYP17 and CYP3A4 Genes and Intrahepatic Cholestasis of Pregnancy in Chengdu

作　　者：张力[1] 刘淑芸[1] 陈强[2] 时青云[3] 邹海[2] 吴琳[1] 

机构地区：[1]四川大学华西第二医院妇产科,成都610041 [2]四川省脐带血造血干细胞库 [3]首都医科大学附属北京友谊医院妇产科

出　　处：《四川大学学报（医学版）》2006年第4期551-553,582,共4页Journal of Sichuan University(Medical Sciences)

基　　金：教育部博士点基金(编号20020610030)资助

摘　　要：目的探讨参与雌激素合成和代谢的细胞色素P 450酶系的CYP 17和CYP 3A 4基因多态性与成都地区妊娠期肝内胆汁淤积症(in trahepatic cho lestas is of pregnancy,ICP)的关系。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对成都地区100例ICP患者(ICP组)和100例正常孕妇(对照组)的CYP 17基因启动子区-1931T/C多态和CYP 3A 4基因转录启动子区-290A/G多态进行分析。结果ICP组和对照组均存在CYP 17基因T/C多态,但两组CYP 17基因型TT、TC、CC频率和等位基因T、C频率的比较差异均无统计学意义(P>0.05)。两组孕妇均未检测到CYP 3A 4-V(即CYP 3A 4*1B)等位基因,所有孕妇的CYP 3A 4基因型均为w t/w t型。结论CYP 17基因启动子区T/C多态与成都地区ICP发病风险无相关性;成都地区妊娠妇女不存在CYP 3A 4基因-290A/G多态。Objective To investigate whether polymorphisms in estrogen- metabolizing genes, CYP17 and CYP3A4, are associated with intrahepatic cholestasis of pregnancy （ICP） in Chengdu China. Methods The -1931T/C polymorphism in the 5＇-untranslated region of CYP17 gene and the -290A/G polymorphism in the 5＇-regulatory region of CYP3A4 gene were detected by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method in 100 pregnant women with ICP （ICP group） and 100 normal pregnant women （control group） in Chengdu. Results The T/C polymorphism of the CYP17 gene was shown clearly in ICP and control groups, but the genotype distributions （TT, TC and CC） and allele frequencies （T and C） of CYP17 polymorphism were of no significant difference between the two groups （P 〉 0.05）. No CYP3A4-V （CTP3A4 ＊ 1B） allele was found in the 200 individuals studied. The genotype of CYP3A4 was wt/wt in all the pregnant women. Conclusion The T/C polymorphism of CYP17 gene is not associated with the risk of ICP in Chengdu. There are not -290A/G polymorphism of CYP3A4 gene among pregnunt women in Chengdu.

关 键 词：妊娠期肝内胆汁淤积症 CYP17 CYP3A4基因 遗传多态性 

分 类 号：R714.25[医药卫生—妇产科学]