Specificity of gene diagnosis for Charcot-Marie-Tooth type 1A

Zhi Guo Wu, Bo Xiao, Jianfeng Xiao, Jing Li

Research output: Contribution to journalArticle

Abstract

Aim: To perform gene diagnosis in 23 patients with Charcot-Marie-Tooth type 1 (CMT1) on the basis of molecular level. Methods: Polymerase chain reaction(PCR) combined with restriction enzyme digestion were used to detect gene specific junction fragments of the 23 CMT1 patients and 30 normal controls. Results: Only 9% (2/23) of CMT1 patients were identified to have the 1760bp specific junction fragments, and could be diagnosed as CMT1A. The remainder of CMT1 patients and 30 controls had no specific junction fragments. Conclusion: Because of the speediness, simpleness and good specificity, the PCR combined with restriction enzyme digestion can be used as a primary screening in the gene diagnosis of CMT1A.

Original languageEnglish (US)
Pages (from-to)2470-2471
Number of pages2
JournalChinese Journal of Clinical Rehabilitation
Volume8
Issue number13
StatePublished - May 1 2004

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Tooth
Genes
Digestion
Polymerase Chain Reaction
Enzymes

All Science Journal Classification (ASJC) codes

  • Rehabilitation

Cite this

Specificity of gene diagnosis for Charcot-Marie-Tooth type 1A. / Wu, Zhi Guo; Xiao, Bo; Xiao, Jianfeng; Li, Jing.

In: Chinese Journal of Clinical Rehabilitation, Vol. 8, No. 13, 01.05.2004, p. 2470-2471.

Research output: Contribution to journalArticle

Wu, Zhi Guo ; Xiao, Bo ; Xiao, Jianfeng ; Li, Jing. / Specificity of gene diagnosis for Charcot-Marie-Tooth type 1A. In: Chinese Journal of Clinical Rehabilitation. 2004 ; Vol. 8, No. 13. pp. 2470-2471.
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