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Paper Information

Journal:   IRANIAN JOURNAL OF BASIC MEDICAL SCIENCES   JANUARY 2015 , Volume 18 , Number 1; Page(s) 53 To 56.
 
Paper: 

MEFV MUTATIONS IN NORTHWEST OF IRAN: A CROSS SECTIONAL STUDY

 
 
Author(s):  JABBARPOUR BONYADI MORTEZA, MIR NAJD GERAMI SOUSAN*, SOMI MOHAMMAD HOSSEIN, DASTGIRI SAEED
 
* GASTROINTESTINAL AND LIVER DISEASE RESEARCH CENTER, TABRIZ UNIVERSITY OF MEDICAL SCIENCES, TABRIZ, IRAN
 
Abstract: 

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.

 
Keyword(s): FAMILIAL MEDITERRANEAN FEVER, IRANIAN AZERBAIJANIS, M694V, MEFV MUTATION
 
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