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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 explore the relationship between mutations in exon 6 and 9 of MDR3 gene and ICP in patients with intrahepatic cholestasis of pregancy (ICP). Methods: DNA was extracted from peripheral blood of 29 ICP patients and 32 normal pregnant women and their relatives from ethnic minority autonomous counties of Yunnan Province. Exon 6 and 9 of MDR3 gene were amplified by polymerase chain reaction (PCR) PCR products were subjected to DNA sequencing analysis. Results: All the patients with ICP and control group were amplified by PCR. There was polymorphism site C158T in exon 6 and G581A in exon 9, but there was no significant difference between the two groups. Conclusion: The occurrence of ICP in Lincang minority areas in Yunnan Province may not be related to the mutation of exons 6 and 9 of MDR3.