Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 1 de 1
Filtrar
Adicionar filtros








Intervalo de ano
1.
Chinese Journal of Medical Genetics ; (6): 631-633, 2010.
Artigo em Chinês | WPRIM | ID: wpr-234349

RESUMO

<p><b>OBJECTIVE</b>To identify the mutation of the androgen receptor (AR) gene in a complete androgen insensitivity family.</p><p><b>METHODS</b>DNA was extracted from peripheral blood samples from family members in the family. PCR and DNA sequencing were then employed to detect the mutation of AR gene.</p><p><b>RESULTS</b>A single nucleotide deletion of nucleotide A in exon 4 of the AR gene (1910delA) was detected in all the three patients in this family, which lead to Asn637Ile and Lys638stop. This mutation was also found in the mother (heterozygote) but was not observed in the normal controls.</p><p><b>CONCLUSION</b>The 1910delA mutation of the AR gene is a novel mutation that leads to complete androgen insensitivity syndrome.</p>


Assuntos
Feminino , Humanos , Masculino , Adulto Jovem , Síndrome de Resistência a Andrógenos , Genética , Povo Asiático , Genética , Sequência de Bases , Análise Mutacional de DNA , Éxons , Genética , Dados de Sequência Molecular , Linhagem , Receptores Androgênicos , Genética , Deleção de Sequência , Genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA