Objective: Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease characterised by recurrent attacks of serositis and fever accompanied by pain in the abdomen. FMF is caused by mutations in Mediterranean Fever (MEFV) gene. The aim of this study was to evaluate the results of FMF genetic mutation analysis made in our laboratory and to get some information about the frequency of FMF genetic mutations in Izmir.

Materials and Methods: MEFV gene mutations were retrospectively investigated in 126 patients which were prediagnosed as FMF between January-August 2015. Polymerase Chain Reaction and DNA pyrosequence methods were used to search 21 different mutations in MEFV gene.

Results: MEFV gene mutations were found in 66 of 126 patients with sequence analysis (52.4%). There were 18 homozygous, 20 compound heterozygous and 28 heterozygous patients. The most common mutations were; M694V in homozygotes, M694V/M680I in compound heterozigotes and E148Q in heterozigotes. Allele frequencies were as follows: M694V (37.4%), E148Q (11.45%), M680I (11:45%), V726A (6.11%), P369S (5.35%), R761H (3.05%), R744S (2.29%), K695R (1.52%), wt (21.38%).

Conclusion: In our study M694V was found to be the most common mutation as in many studies results. The most common four mutation types that we found were in accordance with the other studies, but their frequency rate varies. In this study, total number of M694V allels was lower than the other studies (37.4%). This may be due to small number of the study group, difference of methods or it can be caused by the number of mutations investigated. In our country there are few studies examining 21 mutations. It was determined that most of the mutations from the department of organ transplantation was M694V. It was thought that the mutation type is associated with the severity of the disease. Earlier mutation analysis in patients who are prediagnosed as FMF, will prevent future possible complications. In this respect, we believe that our results may provide guidence to future studies.