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Case Reports
. 2011 Apr;28(2):176-9.
doi: 10.3760/cma.j.issn.1003-9406.2011.02.012.

[A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome]

[Article in Chinese]
Fu-wei LUO  1 , Wei-qing WU, Qian GENG, Fang LI, Wu-bing CHEN, Wan-xia GAN, Jian-sheng XIE
Affiliations
Case Reports

[A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome]

[Article in Chinese]
Fu-wei LUO et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr.

Abstract

Objective: To identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).

Methods: DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.

Results: DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).

Conclusion: 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.

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