妊娠期肝内胆汁淤积症患者多药耐药3基因外显子8和12突变的研究

Mutations in Exons 8 and 12 of the MDR3 Gene in Patients with Intrahepatic Cholestasis of Pregnancy

目的:研究多药耐药3(MDR3)基因外显子8和12突变与妊娠期肝内胆汁淤积症(ICP)的关系,探讨ICP的发生机制。方法:从29例ICP患者及32例正常孕妇的外周血中提取DNA,聚合酶链反应(PCR)扩增MDR3基因外显子8和12,对PCR产物进行DNA测序分析。结果:ICP患者和对照组PCR均扩增出目的片段,且存在多态性位点G711A及A1260G,两组的8号外显子基因型频率和12号外显子基因型频率比较,差异均有统计学意义(P<0.05,P<0.01)。结论:云南临沧地区ICP的发生可能与MDR3外显子8和12的突变有关。

Objective：To investigate the relationship between the point mutations in exons 8 and 12 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. Exons 8 and 12 of the MDR3 gene were amplified using polymerase chain reaction （PCR）. The PCR products were then sequenced to detect mutations. Results：The target band of MDR3 gene exon 8 and 12 were found in all blood samples from all cases. Polymorphic locus G711A and A1260G were found. Point mutations were detected on both exons by DNA sequence analysis. The genotype frequencies of exon 8 and 12 in patients with ICP were significantly different from those in controls（ P 〈 0. 05, P 〈 0. 01 ）. Conclusions：The point mutation of MDR3 gene exon 8 and 12 may correlate with ICP pathogenesis in Yunan province Linchang area.