Liu Xiaoyi, Fu Jiao, Cai Zhen, Sun Liang, Zhang Xiaoyan, Li Zesong, Diao Ruiying, Wang Zihui, Yu Guangyin, Cai Zhiming, Gui Yaoting
The Guangdong and Shenzhen Key Laboratory of Male Reproductive Medicine and Genetics, Peking University Shenzhen Hospital, 1120 Lianhua Rd, Shenzhen 518036, China.
J Androl. 2012 May-Jun;33(3):357-60. doi: 10.2164/jandrol.111.013581. Epub 2011 Jul 14.
We identified an unusual novel nonsense mutation in exon 3 of the androgen receptor (AR) gene in a patient with complete androgen insensitivity that was persistence of Wolffian derivatives. Sequence analysis revealed a substitution (C→T) at position 2211 and a deletion of G at position 2213 in exon 3 of the AR gene, resulting in the conversion of arginine(CGG) to a stop codon (TGA) of the AR. Western blotting demonstrated a truncated AR with around 70 kd was expressed. Histology of patient's testes showed that seminiferous tubules were totally filled with Sertoli cells without germ cells. Immunohistochemistry revealed positive AR localization in the nuclei of Sertoli cells and epithelia of efferent ductule and vas deferens. AR immunoexpression was stronger in the epithelia of efferent ductule and vas deferens than in Sertoli cells. The study extends the spectrum of exon 3 mutations in the AR gene.
我们在一名患有完全雄激素不敏感且存在中肾管衍生物残留的患者中，鉴定出雄激素受体（AR）基因外显子3中一种不寻常的新型无义突变。序列分析显示，AR基因外显子3中第2211位发生了一个替换（C→T），第2213位的G缺失，导致AR的精氨酸（CGG）转变为终止密码子（TGA）。蛋白质印迹法显示表达出了一个约70kd的截短型AR。患者睾丸组织学检查显示，生精小管完全充满支持细胞，无生殖细胞。免疫组织化学显示，AR在支持细胞核以及输出小管和输精管上皮中呈阳性定位。AR在输出小管和输精管上皮中的免疫表达强于支持细胞。该研究扩展了AR基因外显子3突变的范围。
