Objective: Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease that primarily affects populations surrounding the Mediterranean basin. The gene linked to FMF, called MEFV, encodes a 781-aa protein called pyrin (Marenostrin). MEFV locates on to the short arm of chromosome 16p (16p13,3). The prevalence reaches a high of 1 in 1000 individuals in the Turkish population; some studies reported the carrier rate in Turkey also to be 15-34 %. We aimed to find the frequency of mutation of MEFV in İzmir Bozyaka Education and Reseach Hospital.

Materials and Methods: The medical records of the patients were evaluated retrospectively. In this study, the most prevalent MEFV gene mutations were analyzed for 656 cases (age range 1-84 yr) referred to our department with the diagnosis of FMF. Twelve common MEFV gene mutations were studied with a reverse hybridization assay as described by the manufacturer.

Results: Of these cases, 342 (42.1%) were identified with an MEFV gene mutation. Among those, 56 patients were found to be homozygote for pyrin mutations; 110 patients were with compound heterozygosity; 176 patients were found to carry only one of the screened mutations.

Conclusion: The allele frequency of FMF mutations in the study groups were M694V % 16.0, E148Q 6.6%, M680I (G/C) 5.5%, V726A 4.1%, P369S 1.6%, A744S 1.5%, R761H 1.2%, M680I (G/A) 0.8%, M694I 0.6%, K695R 0.5%, F479L 0.5%, I692del %0.0.