Identification of a novel frameshift mutation of human androgen receptor gene in a patient featuring complete androgen insensitivity syndrome.
- VernacularTitle:完全型雄激素不敏感综合征雄激素受体基因突变的鉴定与分析
- Author:
Jian-hong XIE
1
;
Jing-hui QU
;
Qi-zhi XIAO
;
Yu-qiu ZHOU
Author Information
- Publication Type:Case Reports
- MeSH: Androgen-Insensitivity Syndrome; diagnosis; genetics; Base Sequence; Exons; Frameshift Mutation; Humans; Male; Phenotype; Receptors, Androgen; genetics; Young Adult
- From: Chinese Journal of Medical Genetics 2013;30(1):99-101
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify potential mutation of human androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS).
METHODSDNA sequences of 8 exons and exon/intron boundaries of the AR gene were amplified with PCR and directly sequenced.
RESULTSDNA 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.
CONCLUSIONA novel frameshift mutation in exon 6 of AR gene probably underlies the disease in our patient.
