Title: Genetic Studies on 18 Patients with Charcot-Marie-Tooth Disease
Abstract:Objective To study the genetic characteristics of Charcot-Marie-Tooth(CMT)disease. Methods Polymerase chain reaction(PCR) combined with restriction enzyme digestion was used to detect gene duplication...Objective To study the genetic characteristics of Charcot-Marie-Tooth(CMT)disease. Methods Polymerase chain reaction(PCR) combined with restriction enzyme digestion was used to detect gene duplication on chromosome 17p11.2-12 in 18 CMT patients and 10 controls. Mutation analysis of Cx32 gene was also performed. Results 61.1%(11/18)of CMT patients were identified to have specific junction fragments(1760bp). Duplication was not identified in the controls. Two different new mutations were found in the coding region of Cx32 in 4 patients (22.2%) who were not identified to have the duplication. One patient was from a sporadic family,and the other three patients were from an X-linked inherited family. Mis-sense mutation and point mutation in exon 2 of Cx32 gene were proved by DNA sequencing analysis. The detecting rate was 83.3%(15/18)by using both methods. Conclusion The PCR combined with restriction enzyme digestion is a relatively sensitive and accurate method for detecting gene duplication in CMT cases for clinical diagnosis. The detecting rate can be increased by using both restriction enzyme digestion of PCR products and mutation analysis of Cx32 gene.Read More
Publication Year: 2008
Publication Date: 2008-01-01
Language: en
Type: article
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