A Familial Pathogenic Gene Analysis Of Carpal Tunnel Syndrome And Clinical Diagnosis And Treatment

Background: Carpal tunnel syndrome (CTS) is a more common upper extremityneuropathy in the wrist. The CTS is caused mainly by median nerve compression atthe level of carpal tunnel. Some papers and literatures revealed that familial bilateralCTS may be a genetically distinct disorder and sugguested that an inheitable disordertransmitted by an autosomal dominant gene might be responsible.Objective: We found a case of familial carpal tunnel syndrome in the JilinProvince of China. We want to make sure whether this family which we found in theJilin province have some relationship with the5candidate genes includingACAN, TTR, PMP22, CCL2, B2M. We did surgical treatment for the patients in thisfamily and studied the possible pathogenic factors.Methods：Peripheral blood sample was obtained from15members (included11patients)in this family. We extracted genomic DNA from the peripheral bloodsample. Using the candidate genes including ACAN, TTR, PMP22, CCL2, B2M todesign primers, the target genes were amplified by PCR. Then we analyzed by thePCR products whether there were mutations existed in the family. The median nerverelease surgery and transverse ligament incision were operated in8patients of thisfamily.Results: The mutation of ACAN, TTR, PMP22, CCL2, B2M were not found in8patients and4health members of this family. The abnormal thickening anddegeneration of the transverse ligament were found in the6patients’ operation.Conclusion: Those hypothetical genes including ACAN, TTR, PMP22, CCL2,B2M are not causative gene in this family, and our results have a differ from previousstudies of this5genes.The cause of pedigrees may be one or several genes which hassome genetic characteristics. The degeneration of the transverse ligament maybe thefactor which caused the disease occurred.