雌激素受体β基因Rsa I和A／uI多态性与原因不明月经过少的关系

目的探讨西南地区雌激素受体β（estrogen receptor β，ERβ）基因多态性与原因不明月经过少的关系。方法用聚合酶链反应-限制性片段长度多态性方法，对西南地区100例原因不明月经过少患者和100名月经正常者ERβ基因RsaI和AluI多态性进行分析。结果R等位基因频率患者组为37．5％，正常对照组为48．5％（比值比值：0．64，95％CI：0．42～0．97，P=0．026）。患者组A等位基因频率为18．0％，正常对照组为11．5％（比值比值：1．69，95％CI：0．93～3．09，P=0．07）；RsaI和A／uI限制性片段长度多态性在两组中均呈多态性分布。结论ERβ基因多态性与原因不明月经过少有关，R等位基因可能是其保护因素，A等位基因可能是其危险因素。

The study on the relationship between Rsa I, Alu I polymorphism of the estrogen receptor beta gene and un-known aetiology hypomenorrhea

OBJECTIVE: To study the relationship between estrogen receptor beta gene (ER beta) polymorphism and unknown aetiology hypomenorrhea in Southwestern China . METHODS: One hundred eumenorrhea women were chosen as control group and another 100 hypomenorrhea patients as case group from Southwestern China. Restriction fragment length polymorphism (RFLP) of the Rsa I and Alu I in ER beta gene was analysed. The ER beta gene polymorphism genotype distribution in case group and control group was compared. RESULTS: R allele frequency in case and control groups was 37.5% and 48.5% respectively, the OR was 0.64 (95%CI: 0.42-0.97), P= 0.026. A allele frequency in case and control groups was 18.0% and 11.5% respectively, the OR was 1.69 (95%CI: 0.93-3.09), P= 0.07. RFLP of Rsa I and Alu I in both groups were distributed with polymorphism. CONCLUSION: ERbeta gene polymorphism has a relation with unknown aetiological hypomenorrhea. R allele may be the guard factor, and A allele may be its risk factor.