Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 99-101, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-232195
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS).</p><p><b>METHODS</b>DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced.</p><p><b>RESULTS</b>DNA sequencing has revealed a frameshift mutation due to deletion of nucleotide C at position 3507 in exon 6, which gave rise to a stop codon resulting premature termination for translation.</p><p><b>CONCLUSION</b>A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Síndrome de Resistência a Andrógenos
/
Sequência de Bases
/
Receptores Androgênicos
/
Éxons
/
Mutação da Fase de Leitura
/
Diagnóstico
/
Genética
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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