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学科主题: 临床医学
题名:
A Novel Nonsense Mutation in the Androgen Receptor Gene Causes the Complete Androgen Insensitivity Syndrome
作者: Liu, Xiaoyi2; Fu, Jiao2,3; Cai, Zhen2; Sun, Liang1; Zhang, Xiaoyan1; Li, Zesong1; Diao, Ruiying1; Wang, Zihui4; Yu, Guangyin4; Cai, Zhiming1; Gui, Yaoting1
刊名: JOURNAL OF ANDROLOGY
发表日期: 2012-05-01
DOI: 10.2164/jandrol.111.013581
卷: 33, 期:3, 页:357-360
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Andrology
研究领域[WOS]: Endocrinology & Metabolism
关键词[WOS]: REGION
英文摘要:

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. J Androl 2012;33:357-360

语种: 英语
所属项目编号: 30971636
项目资助者: National Nature Science Foundation of China
WOS记录号: WOS:000305308700007
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/50603
Appears in Collections:北京大学深圳医院_期刊论文

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作者单位: 1.Peoples Hosp Hainan Prov, Dept Lab Med, Haikou, Peoples R China
2.Peking Univ, Shenzhen Hosp, Guangdong & Shenzhen Key Lab Male Reprod Med & Ge, Shenzhen 518036, Peoples R China
3.Peking Univ, Shenzhen Hosp, Dept Lab Med, Shenzhen 518036, Peoples R China
4.Peking Univ, Shenzhen Hosp, Dept Pathol, Shenzhen 518036, Peoples R China

Recommended Citation:
Liu, Xiaoyi,Fu, Jiao,Cai, Zhen,et al. A Novel Nonsense Mutation in the Androgen Receptor Gene Causes the Complete Androgen Insensitivity Syndrome[J]. JOURNAL OF ANDROLOGY,2012,33(3):357-360.
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