Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease.
- Author:
Ru-xu ZHANG
1
;
Bei-sha TANG
;
Xiao-hong ZI
;
Wei LUO
;
Kun XIA
;
Qian PAN
;
Zhi-gao LONG
;
Zheng-mao HU
;
Xiao-bo LI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Charcot-Marie-Tooth Disease; genetics; Child; Child, Preschool; Female; Humans; Male; Mutation; Nerve Tissue Proteins; genetics; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Sequence Analysis, DNA
- From: Chinese Journal of Medical Genetics 2004;21(3):207-210
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the mutation feature of ganglioside-induced differentiation associated protein-1 (GDAP1) gene in Chinese Charcot-Marie-Tooth disease(CMT) patients.
METHODSMutation analysis was carried out by use of polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) combined with DNA direct sequencing of the six exons and their flanking regions of GDAP1 gene in twenty-three CMT patients, including 8 probands of autosomal recessive CMT families and 15 sporadic patients.
RESULTSA compound heterozygous mutation A533G and A767G were unveiled in one autosomal recessive CMT kindred. The homozygous and heterozygous T507G were common SNPs in Chinese population.
CONCLUSIONA533G and A767G of GDAP1 gene were new mutations firstly reported.
