[Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease].
OBJECTIVE
To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients.


METHODS
Mutation 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.


RESULTS
In 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.


CONCLUSIONS
Mutation of NF-L gene may be rare in Chinese CMT patients.
Luo
Wei
W
Department of Neurology, National Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410008 P. R. China. tangbeisha@yahoo.com
Tang
Beisha
B
Zhao
Guohua
G
Li
Qi
Q
Xiao
Jianfeng
J
Yang
Qidong
Q
Xia
Jiahui
J
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D016900:Neurofilament Proteins / Q000235:genetics*; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational
D016900:Neurofilament Proteins; C044882:neurofilament protein L; D004247:DNA