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

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):169-70.
[Article in Chinese]

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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Base Sequence
  • Charcot-Marie-Tooth Disease / genetics*
  • Child
  • Child, Preschool
  • China
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation
  • Neurofilament Proteins / genetics*
  • Point Mutation
  • Polymorphism, Single-Stranded Conformational

Substances

  • Neurofilament Proteins
  • neurofilament protein L
  • DNA

Associated data

  • GENBANK/AY082067