原因不明子宫内膜薄雌激素受体α基因多态性及其表达

Polymorphism and Expression of Estrogen Receptor Alpha Gene in Unknown Aetiology Endometrium Thinness

旨在探讨原因不明子宫内膜薄雌激素受体α(estrogen receptor alpha,ERα)基因多态性及其与表达的关系。选择120名原因不明子宫内膜薄患者为试验组,120名子宫内膜正常人群作为对照组。应用分子生物学的方法分析ERα基因PvuⅡ,XbaⅠ限制性片段长度多态性。通过逆转录-多聚酶链反应(RT-PCR)和Western印迹法分析ERα表达。结果显示,P基因型频率试验组为47.1%,对照组为30.0%,OR值:2.076。试验组X基因型频率为20.8%,对照组为30.4%,OR值:0.602。Pvu II和Xba I限制性片段长度多态性在两组中均呈多态性分布。试验组ERα的mRNA和蛋白质表达均比对照组降低(P<0.05)。由此得出,ERα基因多态性与原因不明子宫内膜薄有关,P等位基因可能是其危险因素,X等位基因可能是其保护因素。ERα在子宫内膜中原因不明子宫内膜薄中的表达低于子宫内膜厚度正常子宫内膜。

It was to study the relationship between estrogen receptor a gene polymorphism and its expression in unknown aetiological endometrium thinness. We chose 120 unknown aetiological endometrium thinness patients as case group and 120 normal endometrium women as control group. Molecular biology was used to analyze restriction fragment length polymorphism （RFLP） of the first intron incision enzyme Pvu Ⅱ , Xba Ⅰ in ERα gene. The RT-PCR and Western blot were used to investigate the expression of the ERα at mRNA and protein level. Results showed that P genotypic frequency was 47.1% in case group and 30.0% in control group, and the OR is 2. 076. X genotypic frequency in case group was 20.8% , and 30. 4% in control group, and OR was 0. 602. RFLP of Pvu Ⅱ and Xba Ⅰ in both case group and control group were distributed with polymorphisms. The mRNA and protein expressions of ERα decreased in case group compared with control group （P 〈 0. 05）. ERα gene polymorphism has a relation with unknown aetiological unknown aetiological endometrium thinness. P allele may be the risk factor, while X allele might be its guard factor. The expression of ERα decreases in unknown aetiological endometrium thinness compared with normal endometrium, which means that EREndometrium Estrogen receptor Gene polymorphism Expression could relate to the unknown aetiological endomctrium thinness.