胰岛素受体基因微卫星多态性与多囊卵巢综合征的相关性研究

Correlation between microsatellite polymorphism in the insulin receptor gene in Chinese women with polycystic ovary syndrome

目的:研究胰岛素受体基因(INSR)标志物D19S884微卫星多态性与多囊卵巢综合征(PCOS)发病的相关性,及其与PCOS患者BMI及血清生殖激素间的关系。方法:收集PCOS(155例)和非PCOS(77例)人群的血液标本,检测血清生殖激素,提取DNA并以特异引物聚合酶链反应扩增(PCR),产物经6%变性聚丙烯酰胺凝胶电泳分离,银染,检测IN-SR标志物D19S884微卫星多态性。结果:①INSR-D19S884等位基因频率分布在PCOS组和非PCOS组间无显著差异。②PCOS组,携带等位基因238患者卵泡刺激素(FSH)值显著高于其他等位基因FSH值,初潮年龄、BMI和其他血清生殖激素值在各等位基因间均无显著差异。非PCOS组,BMI及生殖激素在各基因型间均无显著差异。结论:INSR-D19S884可能不是中国汉族人群PCOS致病基因,但可能与该病进展程度存在一定相关性。

Objective： To investigate the association between the D19S884 marker at the insulin receptor gene and polycysfic ovary syndrome （PCOS） . Methods： Total DNA was extracted by Cbelex - 100 from blood samples of 155 PCOS women and 77 normal women （controls）. Allele frequencies for the D19S884 marker allele at the insulin receptor gene were established from the total DNA using locus - specific prime PCR, followed by electrophoresis of PCR products in denaturing polyacryamide gels and subsequent detection by silver staining. Results： There were no significant differences in the D19S884 marker allele distribution of INSR between women with PCOS and controls. There were no significant differences in menarche age, BMI and T, LH, LH/FSH, E2, PRL levels in serum between the patients with different D19S884 marker allele of INSR except for the FSH level. The FSH levels of samples with 238 allele of D19S884 marker were obviously higher than that in other patients in PCOS group. Conclusion： D19S884 marker variant at the insulin receptor gene locus don＇t play an important role in pathogenesis of Chinese women with PCOS.