国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2009, Vol. 28 ›› Issue (6): 371-373.

• 综述 • 上一篇    下一篇

雄激素受体基因多态性与多囊卵巢综合征

徐丽爽;韩玉崑;宿爱琴   

  1. 300052 天津医科大学总医院妇产科（徐丽爽，韩玉崑）天津市第一中心医院生殖助孕科（宿爱琴）
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2009-11-15 发布日期:2009-11-15

The Androgen Receptor Polymorphism and Polycystic Ovary Syndrome

XU Li-shuang;HAN Yu-kun;SU Ai-qin   

  1. Department of Obstetrics and Gynecology， Tianjin Medical University General Hospital， Tianjin 300052， China（XU Li-shuang， HAN Yu-kun）
  • Received:1900-01-01 Revised:1900-01-01 Published:2009-11-15 Online:2009-11-15

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摘要： 多囊卵巢综合征（PCOS）是生育年龄阶段妇女一种较常见的内分泌失调性疾病，目前认为高雄激素血症是其发病的中心环节。雄激素的生物学作用不仅和血清雄激素水平相关，同时也受到雄激素受体（AR）活性的调节。编码AR的基因位于X染色体（Xql 1~12），第一外显子区包含一个高度多态性的胞嘧啶、腺嘌呤和鸟嘌呤（CAG）重复序列，其表达受X染色体失活模式的影响。体外实验证实，较短的CAG重复次数具有较高的转录活性。近年越来越多实验结果证明，AR的CAG多态性与PCOS间存在相关性，可能为PCOS发病机制及治疗提供有效依据。

关键词: 多囊卵巢综合征, 雄激素受体, CAG多态性, X染色体失活

Abstract: Polycystic ovary syndrome （（PCOS） is a common endocrine disorder in fertile women ， Hyperandrogenism is currently thought to be central to the pathogenesis of PCOS. Androgen biological actions depend not only on serum androgen levels but also are modulated by androgen receptor （AR） activity. The gene encoding AR located on the X-chromosome （Xq11-12） contains a highly polymorphic CAG microsatellite polymorphism in exon1，which is impacted by X-chromosome inactivation pattern .In vitro studies showed that the shorter CAG repeats have a higher transcription activity. Recently， many studies have proved that the AR-CAG polymorphism is associated with PCOS， which may provides an effective evidence for the pathogenesis and therapy.

Key words: Polycystic ovary syndrome, Androgen receptor, CAG polymorphism, X-chromosome inactivation