ABSTRACT
Familial Mediterranean fever [FMF] is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. In this study, we examined all 10 exons to determine the most common mutations in MEFV gene as a single gene associated with FMF. In this basic study, 51 clinically diagnosed Iranian FMF patients referred to Taleghani hospital were studied. Peripheral blood was gained from them and genomic DNA was extracted according to phenol chloroform standard protocol. They were screened for the MEFV mutation using bidirectional sequencing and finally, the sequences were analyzed by related soft wares. Of 51 patients suspected to FMF, 24 [47.05%] were positive for mutation and 27 [52.95%] had no mutations. 14 patients had M694V mutation in exon10 including 4 homozygote mutation, 8 heterozygote and 4 compound heterozygote. Moreover, we could find 6 patients with M680I mutation and 2 individual [8.3%] with V721I mutation in exon 10. Only one person carried E148Q heterozygote mutation in exon 2. Our finding were compatible with others investigation that M694V mutation is the most common mutation in different populations