多囊卵巢综合征患者胰岛素受体基因外显子17的多态性研究

目的：探索胰岛素受体基因外显子17 的基因多态性与多囊卵巢综合症（PCOS）的关系，为多囊卵巢综合症的治疗寻找新的途径。方法：利用PCR-SSCP技术检测45 例多囊卵巢综合症患者（实验组）与40 例健康妇女（对照组）全血中胰岛素受体基因外显子17 位点1058 的基因多态性，同时测定PCOS 患者的一般指标及血清学指标。按照体重指数、胰岛素抵抗、有无高雄激素血症比较胰岛素受体基因外显子17位点1058 C、T等位基因出现的频率。结果：实验组患者T 等位基因出现的频率为71.2%，明显高于对照组的25%（P〉0.05）；实验组非肥胖组患者中T 等位基因出现的频率为69.2%，明显高于肥胖组患者的25%（P〈0.01），亦高于对照组，差异具有统计学意义（P〈0.05）。根据胰岛素受体基因外显子17 出现T、C 基因的频率，将其分为1、2 两组，1 组出现T基因的频率的BMI（20.34± 2.47）明显低于2 组出现C 基因的频率的BMI（26.68± 5.52）；PCOS 患者胰岛素抵抗组与非胰岛素抵抗组中INSR 基因外显子17 出现T、C等位基因的频率无明显差别（P〉0.05）；PCOS 患者高雄激素组组与无高雄激素组中胰岛素受体基因外显子17 出现T、C等位基因的频率无明显差别（P〉0.05）。结论：胰岛素受体基因外显子17 中T/C 单核酸多态性表现与PCOS 患者的发病密切相关，T 等位基因的高发频率与非肥胖因型PCOS 患者的发病密切相关；瘦型PCOS 患者与肥胖型患者胰岛素抵抗的发病机制或许不同；T 等位基的高发频率与PCOS 的主要临床表现如：胰岛素抵抗、高雄激素血症并无明显相关关系。

Research on the Polymorphism of Exon 17 of Insulin Receptor in the Women with Polycystic Ovary Syndrome

Objective： To discuss the relationship between polymorphism of exon 17 of insulin receptor（INSR） and polycystic ovary syndrome（PCOS）, and provide reference for the treatment of PCOS. Methods： In this study, PCR-SSCP was used to detect the gene poly- morphism of exon 17 of INSR site 1058 across whose full blood of 45 women with PCOS and 40 normal as controls. At the same time, the biochemical, hormonal and so on were also been detected. Results： The patients with PCOS occurred T allele with high frequency of the exon 17 oflNSR 71.2%, and the frequence in normal women 25% （P〈0.01）, the difference have significance;and the frequence oft allele in the lean group is 69.2% and the obese group 25%（P〈0.05）, the difference have significance. According to the T, C allele fre- quency of occurrence of the exon 17 oflNSR ,we divided the patients into two groups：l group, which means the 1058 site of the exon 17 of INSR is T allele, 2 group, which is C allele. The BMI of 1 group was lower than that in the 2 group, the differences were significant （P （0.05）; there was no significance difference between the insulin resistance group and without insulin resistance group with the gene polymorphism in exon 17 of INSR; there was no significance difference between the hyperandrogenemia group and without hyperan- drogenemia group with the gene polymorphism in exon 17 of INSR. Conclusions： The gene polymorphism in exon 17 of INSR have association with polycystic ovary syndrome in Qingdao of CH1NA, T allele high frequency have association with the lean PCOS; the pathogenesis of the obesity and lean patients maybe is different T allele high frequency is not associated with PCOS dependence trait such as insulin resistance and hyperandrogenemia,so this polymorphism is only a pathogenic gene in some patients.