中国汉族 CYP11a微卫星多态性与多囊卵巢综合征高雄性激素血症关系的研究

目的探讨胆固醇侧链裂解酶CYP11α基因微卫星多态性与多囊卵巢综合征(polycystic ovary syndrome，PCOS)患者高雄激素血症形成的关系。方法应用聚合酶链反应及聚丙烯酰胺凝胶电泳分离技术检测86例PCOS患者及50名对照妇女CYP11α基因微卫星多态性及其分布，比较CYP11α(tttta)n各等位基因与PCOS高雄激素之间的关系。结果CYP11α基因有4种等位基因(4、6、8、9)；PCOS及对照组基因频率分布为0．17，0．31，0．39，0．13和0．22，0．35，0．33，0．10，差异无统计学意义；CYP11α(tttta)n各等位基因与PCOS高雄激素无明显关系。结论中国汉族CYP11α微卫星多态性对PCOS高雄激素血症的形成无明显关系，不是PCOS的主要致病因素。

Relationship between the microsatellite polymorphism of CYP11α gene and the pathogenesis of hyperandrogenism of polycystic ovary syndrome in Chinese

OBJECTIVE: To explore the association between the microsatellite polymorphism in the promoter region of CYP11 alpha gene and hyperandrogenism of polycystic ovary syndrome (PCOS).METHODS: Eighty-six cases of PCOS and 50 normal women as controls were studied. Polymerase chain reaction and electrophoresis on polyacrylamide gel were employed to detect the polymorphism of CYP11 alpha gene and its frequency distribution. At the same time, the relationships of CYP11 alpha alleles to serum testosterone levels in PCOS were compared. RESULTS: Four different CYP11 alpha (tttta)n alleles were identified, corresponding to 4, 6, 8 and 9 repeat-units alleles. The frequency distribution profiles were 0.17, 0.31, 0.39, 0.13 and 0.22, 0.35, 0.33, 0.10 in PCOS group and control group respectively, showing no statistically significant difference between the two groups. There were no correlations between the polymorphism of CYP11 alpha gene and the serum testosterone levels of PCOS patients. CONCLUSION: Micro-satellite polymorphism (tttta)n of gene CYP11 alpha exists in Chinese women and the polymorphism does not relate to the pathogenesis of hyperandrogenism in women with PCOS.