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

被引：11
作者：
Bidari, Ali [2 ]
Ghavidel-Parsa, Banafsheh [1 ]
Najmabadi, Hossein [3 ]
Talachian, Elham [4 ]
Haghighat-Shoar, Majid
Broumand, Behrooz [5 ]
Ghalehbaghi, Babak [6 ]
机构：
[1] Guilan Univ Med Sci, Dept Rheumatol, Razi Hosp, Rasht 4144895655, Guilan, Iran
[2] Iran Univ Med Sci, Dept Rheumatol, Tehran, Iran
[3] Iranian Welf & Rehabil Univ, Dept Genet, Tehran, Iran
[4] Iran Univ Med Sci, Dept Pediat Gastroentrol, Tehran, Iran
[5] Iran Univ Med Sci, Dept Nephrol, Tehran, Iran
[6] Iran Univ Med Sci, Dept Allergy & Clin Immunol, Tehran, Iran
来源：
MODERN RHEUMATOLOGY | 2010年 / 20卷 / 06期
关键词：
Familial Mediterranean fever; MEFV gene; Iranian population; Common mutations; MOLECULAR DIAGNOSIS; GENE-MUTATIONS; CARRIER RATES; FMF; POPULATION; SPECTRUM; FREQUENCIES; GENOTYPE; DNA;
D O I：
10.1007/s10165-010-0317-3
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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.
引用
收藏
页码：566 / 572
页数：7
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