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目的探讨胰岛素受体基因第17外显子1058位点多态性与多囊卵巢综合征(PCOS)相关性。方法采用聚合酶链反应-单链构象多态性(PCR-SSCP)技术检测89例PCOS患者(试验组)和45例健康妇女(对照组)血胰岛素受体基因第17外显子1058位点多态性,比较两组胰岛素受体基因第17外显子1058T位点频率。分析试验组患者的BMI、有无高雄激素血症及有无胰岛素抵抗的位点频率差异。结果试验组胰岛素受体基因第17外显子1058 T位点频率低于对照组(P<0.05),肥胖组(BMI≥25kg/m~2)低于非肥胖组(BMI<25kg/m~2)(P<0.05),但在有无高雄激素血症或胰岛素抵抗的患者之间无统计学差异(P>0.05)。结论胰岛素受体基因第17外显子1058位点C/T基因为PCOS患者的易感基因;其多态性与PCOS患者肥胖密切相关,但与胰岛素抵抗和高雄激素血症无明显相关性。
Objective To investigate the association of 1058 polymorphism of insulin receptor gene exon 17 with polycystic ovary syndrome (PCOS). Methods Polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) was used to detect the 1058 locus of insulin receptor gene exon 17 in 89 PCOS patients (experimental group) and 45 healthy women (control group) Polymorphisms were compared between the two groups of insulin receptor gene exon 17 exon 1058T site frequency. Analysis of the test group of patients with BMI, with or without hyperandrogenism and with or without insulin resistance site frequency differences. Results The frequency of 1058T site in exon 17 of insulin receptor gene in test group was lower than that in control group (P <0.05), and obesity group (BMI≥25kg / m ~ 2) was lower than non - obese group (BMI <25kg / 2) (P <0.05), but there was no significant difference between those with or without hyperandrogenism or insulin resistance (P> 0.05). Conclusion The C / T gene at position 1058 of exon 17 of insulin receptor gene is a susceptibility gene in PCOS patients. The polymorphism is closely related to obesity in PCOS patients, but not with insulin resistance and hyperandrogenism.