稽留流产患者血液和绒毛中雌激素受体a基因多态性的表达

Expression and significance of estrogen receptor alpha gene polymorphisms in blood and villi of missed abortion

目的通过研究绒毛与血清中雌激素受体a（ERa）基因多态性在稽留流产患者和正常妊娠者间分布的差异，分析ERa基因多态性与稽留流产病因之间的关系。方法选择100例稽留流产患者作为实验组，以同时期自愿选择人工流产术终止妊娠的正常早孕妇女102例作为对照组，取受试者空腹外周全血2ml及无菌条件下取得的绒毛组织。采用聚合酶链式反应一限制性片段长度多态性（PCR—RFLP）方法研究ERa基因的PvuⅡ和XbaI酶切多态性。并通过数据分析探讨ERa基因多态性分布与稽留流产之间的关系。结果血液、绒毛ERa基因PvuⅡ酶切等位基因P、P频率实验组与对照组比较差异有统计学意义（血液）（2=5．542，P〈0．05）（绒毛X。=7．559，P〈0．01），血液0R值：1．742；绒毛OR值：1．948。血液、绒毛ERa基因XbaI酶切等位基因X，X频率实验组与对照组比较差异有统计学意义（血液）（2=15．205，P〈0．01）（绒毛x2=13．750，P〈0．01），血液OR值：2．519，绒毛OR值：2．499。Kappa相关分析实验组P基因和X基因在血液和绒毛中表达均呈正相关。结论ERa基因多态性与稽留流产病因之间有关系，P、X等位基因可能是其发病易感基因。同时基因在血液和绒毛中表达的相关分析得出为正相关，基因检测可以用血液代替绒毛组织。

Objective To explore the differences of estrogen receptor a （ERa） gene polymorphism in patients with missed abortion and normal pregnancy and examine the relationship between ERa gene polymorphism and missed abortion. Methods A total of 100 cases of missed abortion patients and 102 cases of normal pregnant women were selected as the experimental and control groups. And 2ml blood samples and chorionic villus specimens were collected. The method of polymerase chain reaction restriction fragment length polymorphism was employed for ERa gene Pvu Ⅱ and Xba Ⅰ polymorphism. And the data was analyzed to explore the relationship between ERa gene polymorphism and missed abortion. Results There was statistic significance in the frequency of ERa gene Pvu Ⅱ enzyme cleavage allele P and p from blood and villi samples between two groups, blood （ X2 = 5. 542, P 〈 0.05 ） OR ： 1. 742 , villi （ X2 = 7. 559, P 〈 0. 01 ） , OR ： 1. 948 . Statistic significances existed in the difference of frequency for ERa gene Xba I enzyme cleavage allele X and x from blood and villi samples between two groups, blood （ x2 = 15. 205, P 〈0.01 ）, OR：2. 519 ; villi （ X2 = 13. 750, P 〈 0. 01 ）, OR：2. 499 . There was a positive correlation of the frequency in ERa gene Pvu Ⅱ and Xba I genotype from blood and villi samples in the experimental group. Conclusion It suggests that ERa gene polymorphism is correlated with the pathogenesis of missed abortion. Alleles P and X may be susceptibility genes.