摘要目前已报道的与雄激素不敏感综合征(AIS)有关的雄激素受体(4R)基因突变超过500个,95％的完全型AIS(CAIS)携带有AR突变基因.部分型AIS(PAIS)检测显示AR突变基因的比例占28％,同一基因型患者性别的养成和雄性化程度存在很大差异,辅助活化因子及第1外显子CAG重复数量差异被认为是造成表型差异的原因.轻型AIS(MAIS)相关的AR基因突变有44个,大部分患者出生时具有正常男性表型,仅仅表现为不育.第1外显子是MAIS突变热区,CAG重复数目超过正常可引起轻微的雄激素抵抗及生育力下降.本文就3种类型AIS相关的AR基因突变研究进展进行综述.

abstractsIt was reported that more than 500 androgen receptor (AR) gene mutations were related to androgen insensitivity syndrome (AIS).AR gene mutation is detected about 95％ of the conplete AIS (CAIS) patient,and 28％ of the partial AIS (PAIS).The masculinization varies a lot even with the same genotype,which may due to the auxillary activating factor and CAG repeats of the first exon.Forty-four muations are detected in the MAIS patient,most of them show normal phenotype with infertility.The first exon has been the hotspot region.The abnormal increased CAG repeats may lead to androgen resistence and decresaed fertility in those patients.Study progress on 3 types ofAR gene mutation related to AIS was summarized in the article.