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Original Article

Transthyretin Gene Mutation Associated with Familial Carpal Tunnel Syndrome in Sample of Iraqi Patients

Rihab H. Al-Mudhafar, Ihsan M Ajeena, Iman J Al-Awadi, Dhefaf H. Al-Mudhafar, Najah R. Hadi.


Background: Carpal tunnel syndrome (CTS) is the most common entrapment neuropathy in upper limbs. It affects women more frequently than men. CTS can be caused by many different systemic diseases and local mechanical conditions and it had signs and symptoms due to compression of median nerve at the carpal tunnel in wrist. Objective:The present study aims to study whether Transthyretin (TTR) gene polymorphisms have association with the development of FCTS. Methods: Sixty-four patients suffering from CTS were enrolled in this controlled cross sectional study. For all, nerve conduction study was performed to prove the diagnosis of CTS and to classify its severity. The mean age of all patients was 44.9±7.8 years, 89.1 % were female, 37.5 % had mild type CTS and 40.7 % had right side CTS. 3 mL of peripheral blood was collected from all patients which is a labeled (EDTA) tube at -20 C° for DNA extraction to identify a particular SNP (rs28933979; 148G/A; V50M) that locates at position chr18:31592974 on the exon-2 region which is reported to be associated to the Carpal Tunnel Syndrome. Exon-2 of TTR gene was amplified using the PCR technique and subjected to be tested for presence of SNP by Restriction Fragment Length Polymorphism (RFLP) assay. Results and Conclusion: According to genetic variation, the study cannot discover any TTR gene polymorphism that back to FCTS.

Key words: Familial Carpal Tunnel Syndrome, TTR.

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