IR@PKUHSC  > 北京大学深圳医院
学科主题临床医学
A Novel Nonsense Mutation in the Androgen Receptor Gene Causes the Complete Androgen Insensitivity Syndrome
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
2012-05-01
DOI10.2164/jandrol.111.013581
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
资助者National Nature Science Foundation of China ; National Nature Science Foundation of China
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
资助者National Nature Science Foundation of China ; National Nature Science Foundation of China
WOS记录号WOS:000305308700007
Citation statistics
Cited Times:1[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/50603
Collection北京大学深圳医院
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
GB/T 7714
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.
APA Liu, Xiaoyi.,Fu, Jiao.,Cai, Zhen.,Sun, Liang.,Zhang, Xiaoyan.,...&Gui, Yaoting.(2012).A Novel Nonsense Mutation in the Androgen Receptor Gene Causes the Complete Androgen Insensitivity Syndrome.JOURNAL OF ANDROLOGY,33(3),357-360.
MLA Liu, Xiaoyi,et al."A Novel Nonsense Mutation in the Androgen Receptor Gene Causes the Complete Androgen Insensitivity Syndrome".JOURNAL OF ANDROLOGY 33.3(2012):357-360.
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