ABCB4基因外显子6突变与妊娠期肝内胆汁淤积症的相关研究  

Mutation of ABCB4 gene exon 6 and intrahepatic cholestasis of pregnancy

作　　者：李玉红[1] 徐蕾[2] 李铁臣[1] 

机构地区：[1]皖南医学院分子生物学研究室,安徽芜湖241002 [2]皖南医学院生化与分子生物学教研室,安徽芜湖241002

出　　处：《皖南医学院学报》2012年第5期360-362,共3页Journal of Wannan Medical College

基　　金：安徽高校省级自然科学研究重点项目(KJ2010A321)

摘　　要：目的:探讨ABCB4基因外显子6突变与妊娠期肝内胆汁淤积症(ICP)发病的关系。方法:抽提12例ICP病例标本外周血DNA,进行PCR扩增。对PCR产物进行DNA序列测定,以明确其具体的突变性质。结果:12例妊娠期肝内胆汁淤积症患者的血样品均扩增出ABCB4基因外显子6的靶基因片段,对12例样品的PCR产物全部测定DNA序列,发现7例标本ABCB4基因第504位碱基发生了变化,其中3例为c.504C>T杂合突变,4例为c.504C>T纯合突变。结论:本研究提示ABCB4基因外显子6突变与妊娠期肝内胆汁淤积症(ICP)的发病具有一定的相关性。Objective：To investigate the relationship between the mutation of ABCB4 gene exon 6 and incidence of intrahepatic cholestasis of pregnancy（ICP）.Methods： Genomic DNA was extracted from peripheral blood of 12 ICP patients,and the ABCB4 gene exon 6 was amplified with polymerase chain reaction（PCR）.The PCR products were then sequenced for detecting the mutation.Results： The target bands of ABCB4 gene exon 6 were found in all 12 cases with ICP.DNA sequencing of the total PCR products in 12 cases revealed that 7 had mutations of ABCB4 gene exon 6 identified,including c.504CT heterozygous in 3 and c.504 CT homozygous in 4.Conclusion： The findings suggest that mutation of ABCB4 gene exon 6 has certain association with the incidence of ICP.

关 键 词：妊娠期肝内胆汁淤积症 ABCB4基因 基因突变 DNA序列分析 

分 类 号：R714.14[医药卫生—妇产科学]