雄激素受体 (AR)基因第一外显子中含有遗传多态性的 (CAG)n微卫星序列 ,此序列编码AR转录激活区中的多聚谷氨酰胺片段。近年来研究相继证实 ,AR中的多聚谷氨酰胺重复数与其转录活性负相关 ,并进而发现该微卫星多态性与前列腺癌、延髓脊髓性肌萎缩、雄激素不敏感综合征、乳腺癌、子宫内膜癌及卵巢癌等多种疾病的发生、发展密切相关。 The first exon of the androgen receptor (AR) gene contains a genetic polymorphism (CAG) n microsatellite sequence encoding the polyglutamine fragment in the AR transcriptional activation region. In recent years, studies have confirmed that the number of polyglutamine repeats in AR is negatively correlated with its transcriptional activity, and further found that this microsatellite polymorphism is associated with prostate cancer, medullary spinal muscular atrophy, androgen insensitivity syndrome, breast cancer , Endometrial cancer and ovarian cancer and other diseases, the development is closely related.