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[A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome]
- Source :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(2)
- Publication Year :
- 2011
-
Abstract
- To identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).A novel mutation Glu441stop (GAA to TAA) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a Chinese patient. It may help us further understanding the pathogenesis of CAIS.
Details
- ISSN :
- 10039406
- Volume :
- 28
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Accession number :
- edsair.pmid..........6630a2de22f74e19e99fccfafab0c9d4