雄激素受体基因微卫星CAG多态性与PCOS高雄激素血症关系的临床观察

目的探讨雄激素受体基因微卫星CAG多态性与多囊卵巢综合征(PCOS)患者高雄激素血症的关系。方法应用聚合酶链反应及变性聚丙烯酰胺凝胶分离技术检测128例PCOS患者及115例正常对照妇女雄激素受体(AR)基因微卫星CAG多态性及其分布,比较AR基因CAG等位基因与PCOS高雄激素之间的关系。结果PCOS组和对照组的AR基因CAG等位基因范围分别为8~35和11~32,双等位基因均值分别为22.17±3.20,21.67±3.35,差异无统计学意义(P>0.05)。短组AR基因CAG(n≤22)在PCOS组和对照组分布分别为34.4%(44/128),46.1%(53/115),长组AR基因CAG(n>22)在PCOS组和对照组分别为65.6%(84/128),53.9%(62/115),差异无统计学意义(P>0.05)。短组AR基因CAG在PCOS高雄激素血症组(T≥3.0nmol/L)的分布高于非高雄激素血症组(T<3.0nmol/L),但差别无统计学意义(P>0.05)。结论中国汉族雄激素受体基因微卫星CAG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。

Clinical Observation on Relationship between Androgen Receptor Gene CAG Microsatellite Polymorphism and Pathogenesis of Hyperandrogenism of Polycystic Ovary Syndrome

Objective: To explore the relationship between CAG microsatellite polymorphism of androgen receptor gene and hyperandrogenism of polycystic ovary syndrome (PCOS). Methods: 128 cases of PCOS and 115 normal women as controls were studied. Polymerase chain reaction and separation technique of polyacrylamidegel electrophoresis were adopted to detect the CAG microsatellite polymorphism of androgen receptor(AR) gene and its frequency distribution. At the same time, the relationship of AR-CAG alleles with serum testosterone levels in PCOS were compared. Results: AR-CAG alleles ranged from 8~35 in PCOS and 11~32 in controls, the biallelic mean of two groups were 22.17±3.20 and 21.67±3.35, respectively, and the difference between them were not significantly(P>0.05). The frequencies of short CAG(n≤22) were 34.4%(44/128) in PCOS and 46.1%(53/115) in control, while that of long CAG (n>22) were 65.6%(84/128) and 53.9%(62/115) (P>0.05), respectively. The frequency of short CAG(n≤22) in PCOS with hyperandrogenism (T≥3.0nmol/l) was higher than that of without hyperandrogenism(T<3.0nmol/l) but the difference was not significant(P>0.05) . Conclusion: Androgen receptor gene CAG microsatellite polymorphism exists in Chinese women does not significantly relate with pathogenesis of hyperandrogenism and is not the main cause of PCOS.