TY - JOUR ID - 3889 TI - MEFV mutations in Northwest of Iran: a cross sectional study JO - Iranian Journal of Basic Medical Sciences JA - IJBMS LA - en SN - 2008-3866 AU - Jabbarpour Bonyadi, Morteza AU - Najd Gerami, Sousan Mir AU - Somi, Mohammad Hossein AU - Dastgiri, Saeed AD - Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran AD - Gastrointestinal and Liver Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran AD - Hematology and Oncology Research Center , Tabriz University of Medical Sciences, Tabriz, Iran Y1 - 2015 PY - 2015 VL - 18 IS - 1 SP - 53 EP - 57 KW - Familial Mediterranean fever KW - Iranian azerbaijanis KW - M694V KW - MEFV mutation DO - 10.22038/ijbms.2015.3889 N2 - Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Iranian Azerbaijanis with FMF. Materials and Methods:Medical records of 1330 Iranian Azerbaijanis who were diagnosed with FMF according to Tel-Hashomer criteria from May 2006 to April 2013 were reviewed and 10 MEFV mutations were found in affected individuals. Results:243 patients (18.27%) were homozygous, 370 (27.82%) were compound heterozygous and 717 (53.91%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694V, E148Q, V726A, M680I, and M694I accounted for 42%, 21%, 19%, 14% and 2% of mutations respectively. Conclusion:In our study, M694V was found to be the most prevalent mutation. M694I, the most common mutation among Arabs, is rare in this cohort. Allele frequencies of the common mutations in our studied population have some similarities to those of the Turkish population reported previously. However, M680I is less common in our cohort. UR - https://ijbms.mums.ac.ir/article_3889.html L1 - https://ijbms.mums.ac.ir/article_3889_61bab260c0d74dc2f2726a1906dcf376.pdf ER -