文章摘要
姚 瑶 1 范 俊 2 夏宝国 2 毕淑娜 2 孙宝治 2△.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[J].,2014,14(6):1113-1116
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
Research on the Polymorphism of Exon 17 of Insulin Receptor in the Womenwith Polycystic Ovary Syndrome
  
DOI:
中文关键词: 多卵巢综合症  胰岛素受体基因  外显子 17  胰岛素抵抗  基因多态性
英文关键词: Polycystic Ovary Syndrome(PCOS)  Insulin Receptor Gene  Exon 17  Insulin Resistance  Genetic Polymorphism
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作者单位
姚 瑶 1 范 俊 2 夏宝国 2 毕淑娜 2 孙宝治 2△ 1 青岛大学医学院 山东 青岛 266071 2 青岛市市立医院妇科 山东 青岛 266071 
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中文摘要:
      摘要 目的: 探索胰岛素受体基因 外显子 17 的基因多态性与多囊巢综合症 (PCOS ) 的关系, 为多囊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 1058C、 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。
英文摘要:
      ABSTRACT 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 polymorphism 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 of INSR 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 frequency of occurrence of the exon 17 of INSR ,we divided the patients into two groups:1 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 the2 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 hyperandrogenemia group with the gene polymorphism in exon 17 of INSR.Conclusion: The gene polymorphism in exon 17 of INSR have association with polycystic ovary syndrome in Qingdao of CHINA, 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.
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