Türk Toplumundan Bir Örneklemde MEFV Gen Mutasyonları: Retrospektif Bir Çalışma

Abstract

Objective: Familial Mediterranean fever (FMF) is a hereditary inflammatory disease characterized by recurrent attacks of fever and serositis. FMF is caused by mutations in the protein of MEFV gene (marenostrin). So far 152 mutations and polymorphisms have been identified. The five most common mutations are M694V, M680I, M694I, E148Q, and V726A, most of which are clustered on exon 10 and these mutations account for 74% FMF mutations among Jews, Turks, Arabs and Armenians. In this retrospective study, we aimed to investigate the spectrum of 12 MEFV mutations and genotypes among Turkish FMF patients referred from Medical Genetics Department at Ankara Ataturk Education and Training Hospital located in the central region of Turkey. Material and Methods: We performed reverse hybridization (RH) method for detecting MEFV gene mutations. Results: We detected different genotypes in 288 (54%) of 532 cases by RH. Forty-six of the cases were homozygote for one mutation, 155 were heterozygote, 87 were compound heterozygote for two different mutations. No mutation was detected in the remaining 244 (46%) cases. The most frequent mutations were M694V, followed by E148Q, M680I(G/C) and V726A. Conclusion: Since FMF is an important disease because of its complications, genetic tests must be performed for the patients with FMF criteria and clinicians have to be more careful about this disease.