Literature DB >> 34584331

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

Rihab H Al-Mudhafar1, Ihsan M Ajeena2, Iman J Al-Awadi3, Dhefaf H Al-Mudhafar3, Najah R Hadi4.   

Abstract

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.
© 2021 Rihab H. Al-Mudhafar, Ihsan M Ajeena, Iman J Al-Awadi, Dhefaf H. Al-Mudhafar, Najah R. Hadi.

Entities:  

Keywords:  Familial Carpal Tunnel Syndrome; TTR

Year:  2021        PMID: 34584331      PMCID: PMC8443137          DOI: 10.5455/aim.2021.29.99-103

Source DB:  PubMed          Journal:  Acta Inform Med        ISSN: 0353-8109


  14 in total

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9.  Correlation between Female Sex Hormones and Electrodiagnostic Parameters and Clinical Function in Post-menopausal Women with Idiopathic Carpal Tunnel Syndrome.

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Review 10.  Diagnosis and management of transthyretin familial amyloid polyneuropathy in Japan: red-flag symptom clusters and treatment algorithm.

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