[Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(1): 99-101, 2013 Feb.
Article
en Zh
| MEDLINE
| ID: mdl-23450491
ABSTRACT
OBJECTIVE:
To identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS).METHODS:
DNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced.RESULTS:
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.CONCLUSION:
A novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Síndrome de Resistencia Androgénica
/
Receptores Androgénicos
/
Mutación del Sistema de Lectura
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2013
Tipo del documento:
Article