CYP19和CYP1B1基因多态性与妊娠期肝内胆汁淤积症易感性的研究  

Study on the relationship between polymorphisnms of genes (CYP19 and CYP1B1) and susceptivity to intrahepatic cholestasis of pregnancy

作　　者：王晓莉[1] 欧容清[1] 王璟[1] 张力[2] 邓永红[1] 陈强[3] 

机构地区：[1]四川省成都市第二人民医院妇产科,610017 [2]四川大学华西第二医院妇产科 [3]四川省脐带血造血干细胞库

出　　处：《中国妇幼保健》2008年第36期5188-5190,共3页Maternal and Child Health Care of China

基　　金：成都市卫生局科研基金资助课题(05005)

摘　　要：目的:探讨P450酶系的CYP19和CYP1B1基因多态性与妊娠期肝内胆汁淤积症(ICP)发病的关系。方法:应用聚合酶链反应-限制性片段多态性技术(PCR-RFLP)和等位基因特异性PCR技术(AS-PCR)对100例ICP患者和100例正常对照孕妇CYP19基因第3外显子Rsal酶切多态和CYP1B1基因外显子3密码子432(C-G)多态性进行分析。结果:①对照组CYP19的基因型AA、AG、GG频率分别为30.0%、50.0%、20.0%,ICP组分别为38.0%、45.0%、17.0%,两组比较差异无统计学意义(P>0.05);对照组等位基因A、G频率分别为55.0%、45.0%,ICP组分别为60.5%、39.5%,两组比较差异也无统计学意义(P>0.05)。②对照组CYP1B1的基因型CC、CG频率分别为80.0%、20.0%,ICP组分别为70.0%、30.0%,两组均无突变纯合子(GG),两组比较差异无统计学意义(P>0.05);对照组等位基因C、G频率分别为90%、10%,ICP组分别为85%、15%,两组比较差异也无统计学意义(P>0.0S)。结论:CYP19外显子3基因多态性和CYP1B1外显子3密码子432基因多态性与ICP发病无关。Objective： To investigate the relationship between polymorphisms of genes （CYP 19 and CYP1B1 ） involved in estrogen metabolism and susceptibility to intrahepatic cholestasis of pregnancy （ICP） . Methods： The Rsal polymorphism in exon 3 of CYP19 gene and the -432 C/G polymorphism in exon 3 of CYP1B1 gene were detected with the methods of PCR - RFLP and ASA - PCR in a case - control study, including 100 cases of ICP and 100 cases as controls. Results： The frequencies of AA, AG and GG genotypes of CYP 19 were 30%, 50% and 20% respectively in control group, and were 38%, 45% and 17% respectively in ICP group. There was no significant difference in the distribution of Rsal genotypes between the two groups （P 〉 0. 05）. The frequencies of the two alleles of A and G were 55% and 45% in control group, and were 60. 5% and 39. 5% in ICP group, respectively. There was also no significant difference in the frequency of Rsal alleles between the two groups （ P 〉 0. 05） . The frequencies of CC and CG genotypes of CYP1 B1 were 80% and 20% respectively in control group, and were 70% and 30% respectively in ICP group. There was no significant difference in the distribution of CYP1B1 genotypes between the two groups （P 〉0. 05）. The frequencies of the two alleles of C and G were 90% and 10% in control group, and were 85% and 15% in ICP group, respectively. There was also no significant difference in allele frequency of CYP1B1 between the two groups （P 〉0. 05） . Conclusion： Both the polymorphism in exon 3 of CYP19 gene and the -432 C/G polymorphism in exon 3 of CYP1B1 gene are not associated With the risk of ICP.

关 键 词：妊娠期肝内胆汁淤积症 CYP19基因 CYP1B1基因 遗传多态性 

分 类 号：R714.25[医药卫生—妇产科学] R394[医药卫生—临床医学]