Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2005 Aug;22(4):361-3.

Abstract

Objective: To study the characteristics of the mutation of small heat-shock protein 22 (HSP22) gene in Chinese patients with Charcot-Marie-Tooth (CMT) disease.

Methods: A 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.

Results: In the 114 CMT probands, a 582(C--> T)(T194T)samesense mutation was found in two unrelated families.

Conclusion: The rate of HSP22 gene mutation in Chinese patients with CMT is as low as 0.87%(1/115).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Charcot-Marie-Tooth Disease / ethnology
  • Charcot-Marie-Tooth Disease / genetics*
  • China
  • DNA Mutational Analysis
  • Heat-Shock Proteins, Small / genetics*
  • Humans
  • Mutation*
  • Polymerase Chain Reaction

Substances

  • Heat-Shock Proteins, Small