The Pathogenic Gene Analysis Of A Chinese Family With Carpal Tunnel Syndrome

Background: Carpal tunnel syndrome is the most commonconformity of peripheral nerve disease, wrist tube pressurecaused by any reason, all make the median nerve are squeezedand produce its function obstacle. The vast majority of carpaltunnel syndrome, and no significant genetic evidence, but thereare still a lot of reports found that this disease may beassociated with genetic factors.We found a family carpal tunnelsyndrome of Jilin Province,the clinical diagnosis made beforethe candidate gene mutation genetic screening to determinewhether the presence of mutations in candidate disease genesin this family.Objective: To study the clinical features and determine thecausative gene mutation in a Chinese family with Carpal TunnelSyndrome.Methods: Clinical data and peripheral blood sample of thefamily members were obtained through field investigation. We collected the data of12patients and extracted genomic DNA fromperipheral blood obtained from11members(included9patients).Polymerase chain reaction(PCR) was performed to amplify all theexons of PMP22,TTR,CCL2genes. Then the PCR products weresequenced bidirectionally to screen mutations.Results: The mutation of PMP22,TTR,CCL2were not found in thisfamily.Conclusion: Candidate gene PMP22, TTR and CCL2not causativegene in this family, the disease-causing gene in this familyis likely to be an unknown genes.