Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.
- Author:
Fu-feng ZHANG
1
;
Bei-sha TANG
;
Guo-hua ZHAO
;
Biao CHEN
;
Cheng ZHANG
;
Wei LUO
;
Xiao-min LIU
;
Kun XIA
;
Fang CAI
;
Zheng-mao HU
;
Xin-xiang YAN
;
Ru-xu ZHANG
;
Peng GUO
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Charcot-Marie-Tooth Disease; ethnology; genetics; China; DNA Mutational Analysis; Heat-Shock Proteins, Small; genetics; Humans; Mutation; Polymerase Chain Reaction
- From: Chinese Journal of Medical Genetics 2005;22(4):361-363
- CountryChina
- Language:English
-
Abstract:
OBJECTIVETo study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.
METHODSA CMT2L proband with 423(G--> T) mutation in HSP22 gene had been studied and reported by the present authors. In this study, mutation analysis of HSP22 gene was performed using polymerase chain reaction and DNA direct sequencing in 114 CMT probands.
RESULTSIn the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.
CONCLUSIONThe rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).
