MDR3基因外显子6和9突变与妊娠期肝内胆汁淤积症的关系

The relationship between the point mutation of exons 6 and 9 of MDR3 gene and intrahepatic cholestasis of pregnancy

目的:探索妊娠期肝内胆汁淤积症(intrahepatic cholestasis of pregancy,ICP)患者MDR3基因外显子6和9突变与ICP发病的关系。方法:从云南省临沧地区各少数民族自治县29例ICP患者及32例正常孕妇及患者家属组的外周血中提取DNA,聚合酶链反应(PCR)扩增MDR3基因外显子6和9,PCR产物进行DNA测序分析。结果:所有ICP患者及对照组PCR均扩增出目的片段,且外显子6存在多态性位点C158T,外显子9存在突变位点G581A,但两组的基因频率无明显差异。结论:云南省临沧少数民族地区ICP的发生可能与MDR3外显子6和9的突变无关。

Objective：To investigate the relationship between the point mutation of exons 6 and 9 of MDR3 gene and intrahepatic cholestasis of pregnancy（ICP）.Methods：Genomic DNA was extracted from the peripheral blood of 29 patients with ICP and 32 normal pregnant women who lived in Lincang Minorities Autonomous County.Exons 6 and 9 of the MDR3 gene were amplified using polymerase chain reaction（PCR）.The PCR products were sequenced to detect mutations.Results：The target band of MDR3 gene exons 6 and 9 were found in all blood samples from all cases.Point mutation C158T and G581A were detected,but the genotype frequencies in patients with ICP were not significantly different from those in controls.Conclusion：There may be no relationship between mutations in exons 6 and 9 of MDR3 gene and the pathogenesis of ICP in Lincang Minorities Autonomous County of Yunan province.