Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease.
- Author:
Wei LUO
1
;
Beisha TANG
;
Guohua ZHAO
;
Qi LI
;
Jianfeng XIAO
;
Qidong YANG
;
Jiahui XIA
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Base Sequence; Charcot-Marie-Tooth Disease; genetics; Child; Child, Preschool; China; DNA; chemistry; genetics; DNA Mutational Analysis; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Mutation; Neurofilament Proteins; genetics; Point Mutation; Polymorphism, Single-Stranded Conformational
- From: Chinese Journal of Medical Genetics 2003;20(2):169-170
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients.
METHODSMutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve.
RESULTSIn 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing.
CONCLUSIONMutation of NF-L gene may be rare in Chinese CMT patients.
