Vol.20 No.6

Original Article

Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance

Authors

Ali Bidari1 , Banafsheh Ghavidel-Parsa2 , Hossein Najmabadi3 , Elham Talachian4 , Majid Haghighat-Shoar5 , Behrooz Broumand6 , Babak Ghalehbaghi7

  • Department of Rheumatology, Iran University of Medical Sciences, Tehran, Iran
  • Department of Rheumatology, Razi Hospital, Guilan University of Medical Sciences, Sardar Jangal St., 41448-95655 Rasht, Guilan, Iran
  • Department of Genetics, Iranian Welfare and Rehabilitation University, Tehran, Iran
  • Department of Pediatric Gastroentrology, Iran University of Medical Sciences, Tehran, Iran
  • Tehran, Iran
  • Department of Nephrology, Iran University of Medical Sciences, Tehran, Iran
  • Department of Allergy and Clinical Immunology, Iran University of Medical Sciences, Tehran, Iran
Received:

10 November 2009

Accepted:

7 May 2010

Published online:

15 June 2010

Full Text

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Abstract

The aim of our study was to determine the spectrum of the 12 most common familial Mediterranean fever gene (MEFV) mutations in Iranian patients with heterogeneous ethnicity, using the familial Mediterranean fever (FMF) strip assay test. A total of 36 patients were diagnosed according to established clinical criteria. Genomic DNA from all patients was tested for 12 common mutations located in exon 2 (E148Q), 3 (P369S), 5 (F479L), 10 [M680I (G>C), M680I (G>A), I692del, M694V, M694I, K695R, V726A, A744S, R761H], respectively, using the FMF strip assay test. Of the 35 patients with mutations, ten were homozygote, 20 were compound heterozygote, and five were heterozygote. The most frequent genotype was M680I/M680I (6 patients, 16.7%). The most frequent mutation was M680I, followed by M694V, and V726A. The FMF strip assay test for common these 12 mutations was positive in 90.6% of alleles in this study, indicating that it appears to be an effective method for FMF mutation screening in Iranian patients.

Key words

Familial Mediterranean fever - MEFV gene - Iranian population - Common mutations