Study of Four Common Mutations of Familial Mediterranean Fever in North-West of Iran

Abstract

Background and Objectives : Familial Mediterranean Fever, an autosomal recessive disorder, is the most common and well known periodical fevers syndrome. Disease is mainly prevalent among non-Ashkenazi Jews, Arabs, Turks and Armenia. According to the geographical location of North-West of Iran, neighboring with two high risk FMF population (Turkey and Armenia), the prevalence of FMF in this region of Iran is not unlikely. The aim of this study was to estimate the carriers rate of FMF common mutations in healthy control people. Results can be potentially useful to estimate prevalence of disease. Methods : Randomly 200 samples from healthy people [non-FMF] from North-West of Iran selected. After taking consent, DNA was extracted from blood samples of these groups. Then mutations were evaluated using ARMS-PCR and RFLP-PCR techniques. Results : from 400 studied alleles, 44 and 7 mutant alleles were found for E148Q and V726A respectively. For 2 other mutations, no mutant alleles were found. The total allelic frequency for these four common mutations was 0.132. The carriers rate was 23.4%. Conclusion : This study showed that E148Q has high mutation frequency relative to other mutations in North-West of Iran.

Keywords

• Familial Mediterranean Fever; MEFV Gene; Common Mutations; North-West of Iran