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

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。

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

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 CYP1BI 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 CYP1B1 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.