妊娠期肝内胆汁淤积症与ABCB4基因外显子8突变的相关性研究  

Mutation of ABCB4 gene exon 8 and intrahepatic cholestasis of pregnancy

作　　者：庞晓楠[1] 李慧[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]皖南医学院机能学实验中心,安徽芜湖241002

出　　处：《皖南医学院学报》2013年第1期8-9,22,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:研究ABCB4基因外显子8突变的情况,以探讨其与妊娠期肝内胆汁淤积症(ICP)发病的关系。方法:对15例中国皖南地区妊娠期肝内胆汁淤积症患者抽外周血提取基因组DNA,采用聚合酶链式反应(PCR)结合DNA序列测定的方法对ABCB4基因外显子8的突变情况进行筛查,并确定其具体的突变性质。结果:15例标本均扩增出AB-CB4基因外显子8的目的片段。对DNA序列测定结果进行分析,发现其中有5例(33.33%)存在c.711A>T杂合性突变。结论:ABCB4基因外显子8的突变可能与中国人群ICP的发病存在一定的相关性。Objective： To investigate the relationship between the mutation of ABCB4 gene exon 8 and the intrahepatic cholestasis of pregnancy （ICP） through detecting the mutation status of ABCB4 gene exon 8. Methods ：The blood samples were initially obtained from 15 ICP patients in south Anhui province for DNA genome extraction. The mutation status of ABCB4 gene exon 8 was detected and characterized using polymerase chain reaction（PCR） and DNA sequencing. Results：The integrated target bands of ABCB4 gene exon 8 were found in the total blood samples from the 15 ICP cases. After DNA sequencing,point mutation of ABCB4 gene exon 8 with C. 711A 〉 T heterozygous was seen in 5 cases （33.33%）. Conclusion ： Incidence of ICP in Chinese female population may be associated with the mutation of ABCB4 exon 8 to a certain extent.

关 键 词：妊娠期肝内胆汁淤积症 ABCB4基因 聚合酶链反应 DNA序列测定 

分 类 号：R714.2[医药卫生—妇产科学]