Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease

Wei Luo, Bei Sha Tang, Guo Hua Zhao, Qi Li, Jianfeng Xiao, Qi Dong Yang, Jia Hui Xia

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

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. Conclusion: Mutation of NF-L gene may be rare in Chinese CMT patients.

Original languageEnglish (US)
Pages (from-to)169-170
Number of pages2
JournalChinese Journal of Medical Genetics
Volume20
Issue number2
StatePublished - Apr 1 2003
Externally publishedYes

Fingerprint

Charcot-Marie-Tooth Disease
Intermediate Filaments
Light
Mutation
Genes
Sural Nerve
Electromyography
DNA Sequence Analysis
Single Nucleotide Polymorphism
China
Biopsy
Polymerase Chain Reaction

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

Cite this

Luo, W., Tang, B. S., Zhao, G. H., Li, Q., Xiao, J., Yang, Q. D., & Xia, J. H. (2003). Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease. Chinese Journal of Medical Genetics, 20(2), 169-170.

Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease. / Luo, Wei; Tang, Bei Sha; Zhao, Guo Hua; Li, Qi; Xiao, Jianfeng; Yang, Qi Dong; Xia, Jia Hui.

In: Chinese Journal of Medical Genetics, Vol. 20, No. 2, 01.04.2003, p. 169-170.

Research output: Contribution to journalArticle

Luo, W, Tang, BS, Zhao, GH, Li, Q, Xiao, J, Yang, QD & Xia, JH 2003, 'Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease', Chinese Journal of Medical Genetics, vol. 20, no. 2, pp. 169-170.
Luo, Wei ; Tang, Bei Sha ; Zhao, Guo Hua ; Li, Qi ; Xiao, Jianfeng ; Yang, Qi Dong ; Xia, Jia Hui. / Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease. In: Chinese Journal of Medical Genetics. 2003 ; Vol. 20, No. 2. pp. 169-170.
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