国际生殖健康/计划生育杂志

国际生殖健康/计划生育 ›› 2013, Vol. 32 ›› Issue (1): 26-29.

• 热点问题 • 上一篇    下一篇

雄激素受体基因多态性与雄激素代谢紊乱疾病的相关性

袁 纯, 刘嘉茵,崔毓桂   

  1. 210029 南京医科大学第一附属医院生殖医学科
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2013-01-15 发布日期:2013-01-15
  • 通讯作者: 刘嘉茵

Correlation Between AR Gene Polymorphism and Disorders of Androgen Metabolism

YUAN Chun，LIU Jia-yin，CUI Yu-gui   

  1. Clinical Center of Reproductive Medicine，First Affiliated Hospital of Nanjing Medical University，Nanjing 210029，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2013-01-15 Online:2013-01-15
  • Contact: LIU Jia-yin

PDF (PC)

7433

摘要： 雄激素受体（AR）基因上的2个三核苷酸多态性重复位点（CAG）n及（GGN）n的片段长度多态性的争议一直很多，多数研究显示，这2个位点的多态性与某些雄激素代谢紊乱相关的病理状态有关，但不同种族人群的研究结果差异也较大。介绍AR结构及功能、AR基因组学、AR基因多态性与某些疾病的相关性，如前列腺癌、男性不育、多囊卵巢综合征，这些疾病中的AR基因多态性与雄激素代谢紊乱相关。

关键词: 受体, 雄激素, 基因, 串联重复序列, 多态现象, 遗传

Abstract: Androgen receptor （AR） gene has two trinucleotide repeats （CAG and GGN） length polymorphisms，as well as many point mutations，which are associated with a number of diseases resulted from disorders of androgen metabolism，although there are many contradictory findings at the same time. Further，studies on different populations could have different results. In this review，the structure and function of AR，and its genomics，was summarized. Then the relationship between the polymorphic variations in AR gene and some diseases resulted from disorders of androgen metabolism was discussed，including prostate cancer，male infertility，polycystic ovary syndrome and so on.

Key words: Receptors, androgen, Genes, Tandem repeat sequences, Polymorphism, genetic