A novel mutation Glu441stop (GAA to TAA) of androgen receptor gene resulting in complete androgen insensitivity syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 176-179, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-326969
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of human androgen receptor gene (AR) in a patient with complete androgen insensitivity syndrome (CAIS).</p><p><b>METHODS</b>DNA sequences of 8 exons and their exon/intron boundaries of the AR gene in the patient were amplified by PCR and directly sequenced.</p><p><b>RESULTS</b>DNA sequencing revealed a nonsense mutation in exon 1, resulting in a change of codon 441 GAA (glutamic acid) to a stop codon (TAA).</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome de Resistência a Andrógenos
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Receptores Androgênicos
/
Reação em Cadeia da Polimerase
/
Análise de Sequência de DNA
/
Genética
/
Métodos
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Artigo
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