ISSN : 2146-3123
E-ISSN : 2146-3131

MEFV Gene Exon 2 and Exon 10 Gene Region Mutations of Familial Mediterranean Fever Patients in Trakya Population
Hakan Gürkan 1, Çetin Algüneş 1, Emine Neşe Özkayın 2
1İstanbul Üniversitesi İstanbul Tıp Fakültesi, Tıbbi Biyoloji Anabilim Dalı, İstanbul
2Trakya Üniversitesi Tıp Fakültesi Pediatrik Nefroloji Anabilim Dalı, Edirne
Pages : 37-43

Abstract

Objectives: The objective of the study is to explore the MEFV gene exon 2 and exon 10 gene region mutations which take place in etiopathogenesis of Familial Mediterranean Fever in the Thrace population with the DNA sequence analysis method and to compare the results with the other studies.

Patients and Methods: The study included patients with Familial Mediterranean Fever who have no relative relationship, have the same linguistic characteristic and live in the Thrace region for at least three generations (34 females, 34 males). MEFV gene exon 2 and exon 10 gene regions multiplied with PCR and their nucleotids were determined with the DNA sequence analysis method.

Results: G442C, T306C, A414G, C495A, G605A SNPs were found in MEFV gene exon 2 gene region and G2040C, A2080G, G2082A, A2084G, T2177C, G2282A SNPs were found in MEFV gene exon 10 gene region in the Thrace population.

Conclusion: The T306C, A414G, C495A, G605 single-nucleotide polymorphisms in MEFV gene exon 2 gene region and the mutations in exon 10 gene region are not compatible in terms of their frequencies with the results of the other studies.

Keywords : Familial Mediterranean Fever; DNA sequencing; mutations; single-nucleotide polymorphisms
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