Title: Detection of duplication in Charcot-Marie-Tooth disease type 1A
Abstract:Objective To study the routine methods that can be easily used in clinics to detect the Charcot Marie Tooth (CMT) disease gene duplication. Method Polymerase chain reaction(PCR) combined with restrict...Objective To study the routine methods that can be easily used in clinics to detect the Charcot Marie Tooth (CMT) disease gene duplication. Method Polymerase chain reaction(PCR) combined with restriction enzyme digestion and amplification of short tandem repeat (STR) sequence were used to detect gene duplication on chromosome 17p11.2~12 in 30 CMT1 patients and 10 CMT2 patients coming from unrelated families. 40 controls were also detected. Results 46.7%(14/30) of CMT1 patients were identified to have specific junction fragments. 53.3%(16/30)of them were identified as duplication by STR analysis. 70.0%(21/30) of CMT1 patients were identified to have gene duplication using both methods. Duplication was not identified in 10 unrelated CMT2 patients and 40 controls. Conclusion The PCR combined with restriction enzyme digestion represented a relatively sensitive and accurate method for detecting gene duplication in CMT1A cases for clinical diagnosis. The detecting rate of duplication can be increased using both restriction enzyme digestion of PCR products and STR methods.Read More
Publication Year: 2000
Publication Date: 2000-01-01
Language: en
Type: article
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