en زیست شناسی ملکولی Molecular Biology مقالات اصلی Original Article <p style="text-align: justify;"><strong><em>Background:</em></strong> Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation.</p> <p style="text-align: justify;"><strong><em>Methods:</em></strong> To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common <em>MEFV</em> gene mutations was tested.</p> <p style="text-align: justify;"><strong><em>Results:</em></strong> The most frequent clinical presentations of the patients were fever, colicky abdominal pain and arthritis. Eighteen patients responded completely to colchicine therapy.</p> <p style="text-align: justify;"><em>MEFV </em>gene mutations were detected in only 40% of the patients. The most common mutation was E148Q, detected in five patients (25%). The V726A, M694V and P369S mutations were each observed in one patient.</p> <p style="text-align: justify;"><strong><em>Conclusions:</em></strong> Although none of the 12 mutations we included in our test panel was detected in 60% of our patients, all of them had FMF symptoms and responded well to colchicine. <em>MEFV</em> full gene sequencing analysis in these patients may lead to finding new mutations in southwestern Iranian FMF patients which would be helpful in designing a local diagnostic kit.</p> Familial Mediterranean fever, MEFV gene mutations 117 120 http://rbmb.net/browse.php?a_code=A-10-1-76&slc_lang=en&sid=1 Mahmoud Haghighat 10031947532846006234 10031947532846006234 No Gastroenterohepatology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran - Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran. Mozhgan Moghtaderi 10031947532846006235 10031947532846006235 No Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran. Shirin Farjadian farjadsh@sums.ac.ir 10031947532846006236 10031947532846006236 Yes Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran - Department of Immunology, Shiraz University of Medical Sciences, Shiraz, Iran.