雌激素受体α基因多态性与妊娠期肝内胆汁瘀积症的相关性研究

目的探讨雌激素受体a（ERa）基因Pvu II和XbaI位点的单核苷酸多态性与妊娠期肝内胆汁瘀积症（ICP）发病风险的关系。方法采用聚合酶链反应一限制性片段长度多态性（PCR-RFLP）技术对93例妊娠期肝内胆汁瘀积症患者及96例年龄与孕周皆相匹配的正常妊娠对照者进行等位基因和基因型检测。结果ER仪基因Pvu II位点PP、Pp、pp基因型频率分布在ICP组分别为0．14、0．56、0．30，在对照组频率分布分别为0．17、0．48、0．35，两组间比较，差异无显著性（P〉0．05）。ERa基因XbaI位点XX、Xx、XX基因型频率分布在ICP组分别为0．03、0．31、0．66，在对照组频率分布分别为0．07、0．38、0．55，两组间比较，差异无统计学意义（P〉0．05）。ERd基因Pvu II和XbaI位点等位基因频率分布在两组间差异亦元统计学意义（P〉0．05）。结论ERq基因Pvu II和XbaI位点的单核苷酸多态性与妊娠期肝内胆汁瘀积症的遗传易感性无关，突变基因并未增加妊娠期肝内胆汁瘀积症的发病风险。

Objective To study the correlation between polymorphisms of PvulI and XbaI in estrogen receptor alpha （ ER a ） gene intron 1 and risk of intrahepatic cholestasis of pregnancy （ ICP ） . Method 93 patients with ICP and 96 normal controls matched for age and week of gestation were recruited. Genotyping was performed by using PCR-based restriction fragment length polymorphism （ RFLP ） method. Results Significant differences were not observed between the ICP group and the control group in the frequencies of alleles and genotypes of PvuII and XbaI restriction sites. Conclusions Polymorphisms of PvuII and XbaI in estrogen receptor alpha （ ER a ） gene are not correlated with the susceptibility to ICE The mutation genotype does not increase the risk of ICE