Background: Familial Mediterranean Fever (FMF) is an autosomal recessive disease and it is characterized by recurrent inflammatory attacks of the serous membranes which cause periodic abdominal pain, fever and joint pain. The mutations in the gene of MEFV have been determined to be responsible for the disease. The aim of this study was to screen MEFV gene for 12 mutations in children diagnosed with FMF and to detect alleles which were most frequently observed.

Materials and methods: The study included 157 patients aged 5-15 years. The patients were divided into two groups as active (n = 81) and passive (n = 76) according to their clinical findings. Mutations of MEFV gene in patients were examined by analysis of reverse hybridization.

Results: 66,87% of the total patients had mutation, of which 42,7% had heterozygous, 11,5% compound heterozygous and 12,7% homozygous mutations. The most frequently observed mutations were E148Q heterozygous (22,92%), M694V homozygous (10,82%) and M694V heterozygous (8,28%). The alleles which were detected most were M694V (40,0%), E148Q (32,41%) and V726A (11,72%).

Conclusion: The results of this study have supported the heterogeneity of the mutation of MEFV gene in patients with FMF and have shown that our patients have a wide range of mutations.