Mutation analysis of the androgen receptor gene in a complete androgen insensitivity syndrome family.
- Author:
Weiqing WU
1
;
Fuwei LUO
;
Qian GENG
;
Ying HAO
;
Wubin CHEN
;
Jun CAI
;
Jiansheng XIE
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amino Acid Sequence; Androgen-Insensitivity Syndrome; genetics; Animals; Base Sequence; DNA Mutational Analysis; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Receptors, Androgen; chemistry; genetics; Sequence Alignment; Young Adult
- From: Chinese Journal of Medical Genetics 2009;26(6):606-609
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the mutation of the androgen receptor gene in a family with complete androgen insensitivity syndrome and to explore the pathogenicity of the mutation.
METHODSPCR and DNA sequencing were performed to study the AR gene mutation; Mbo I restriction endonuclease was used to detect existence of the mutation in normal controls; conservation of the mutation site was analyzed by comparison of the sequence of amino acid among different species.
RESULTSThe DNA sequence of the three patients contained the same substitution of a single nucleotide on codon 681 GAG to GAT of exon 4, which located in the ligand binding domain of the AR receptor and led to substitution of glutamic acid to aspartic acid in the AR receptor. Their mother was heterozygote of E681D. E681D was not observed in the normal controls. The E681 site was extremely conservative in different species.
CONCLUSIONThe E681D mutation of the AR gene is a novel mutation of leading to complete androgen insensitivity syndrome.
