妊娠期肝内胆汁淤积症患者与新生儿MDR3基因突变分析

MDR3 gene mutations analysis in patients with intrahepatic cholestasis of pregnancy and the neonates

目的评价中国人群中多药耐药蛋白3(MDR3)基因在妊娠期肝内胆汁淤积症(ICP)发病机制中的遗传作用。方法对65对患有ICP的产妇与女性新生儿抽取外周血DNA进行聚合酶链反应扩增MDR3的14、15、16号外显子进行突变分析。结果65对ICP患者母女MDR3基因的14、15、16号外显子未发现新的突变。结论MDR3基因的14、15、6号外显子突变可能不是中国人群ICP发病的主要原因,但有待于寻找MDR3其他位点的突变或扩大检测样本数量的进一步研究。

Objective To evaluate the genetic contribution of MDR3 gene in the development of intrahepatic cholestasis of pregnancy in chinese subjects. Methods We enrolled 65 women at the 3rd trimester of pregnancy and their female babies. Genomic DNA was extracted from peripheral venous blood leucocytes. Polymerase chain reaction was used to amplify exon 14,15 and 16 of MDR3 gene. Results We found no heterozygous mutations in exon 14 ,exon 15 and exon 16 of MDR3 gene in 65 pregnant mothers with intrahepatic cholestasis of pregnancy,neither in the neonates. Conclusion MDR3 mutations in exon 14,15 and 16 are no-responsible for the development of intrahepatic cholestasis of pregnancy in Chinese women. Further genetic studies are warranted to clarify the role of different mutations in intrahepatic cholestasis of pregnancy and to enlargement the sample size.