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Iranian Journal of Medical Sciences، جلد ۴۰، شماره ۱، صفحات ۶۸-۰
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عنوان انگلیسی MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
چکیده انگلیسی مقاله Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disease with autosomal recessive inheritance pattern often seen around the Mediterranean Sea. It is characterized by recurrent episodes of fever and polyserositis and rash. Recently, MEFV gene analysis determines the definitive diagnosis of FMF. In this study, we analyzed 12 MEFV gene mutations in more than 200 FMF patients, previously diagnosed by Tel-Hashomer clinical criteria, in northwest of Iran, located in the proximity of the Mediterranean Sea. In the northwest of Iran (Ardabil), 216 patients with FMF diagnosis, based on Tel-Hashomer criteria, referred to the genetic laboratory to be tested for the following mutations; P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q. All patients were screened for MEFV gene mutations by a reverse hybridization assay (FMF Strip Assay, Vienna lab, Vienna, Austria) according to manufacturer’s instructions. Among these FMF patients, no mutation was detected in 51 (23/62%) patients, but 165 (76/38%) patients had one or two mutations, 33 patients (15/28%) homozygous, 86 patients (39/81%) compound heterozygous and 46 patients (21/29%) were heterozygous. The most common mutations were M694V (23/61%), V726A (11/11%) and E148Q (9/95%) respectively. MEFV gene mutations showed similarities and dissimilarities in different ethnic groups, while it is common among Arabs and Armenians genotype. Since common 12 MEFV gene analysis could not detect up to 50% of our patients, who had FMF on the basis of clinical Tel-Hashomer criteria, clinical criteria is still the best way in the diagnosis of FMF in this area.
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نویسندگان مقاله فرهاد صالح زاده | farhad salehzadeh
departments of pediatrics, bouali hospital, ardabil university of medical sciences, ardabil, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اردبیل (Ardabil university of medical sciences)

مهدی جعفری اصل | mehdi jafari asl
departments of pediatrics, bouali hospital, ardabil university of medical sciences, ardabil, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اردبیل (Ardabil university of medical sciences)

سعید حسینی اصل | saeid hosseini asl
molecular-genetic laboratory, imam khomeini hospital, ardabil university of medical sciences, ardabil, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اردبیل (Ardabil university of medical sciences)

سپیده جهانگیری | sepideh jahangiri
departments of pediatrics, bouali hospital, ardabil university of medical sciences, ardabil, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اردبیل (Ardabil university of medical sciences)

شهرام حبیب زاده | shahram habibzadeh
department of infectious diseases, bouali hospital, ardabil university of medical sciences, ardabil, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی اردبیل (Ardabil university of medical sciences)

نشانی اینترنتی http://ijms.sums.ac.ir/index.php/IJMS/article/view/1393
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زبان مقاله منتشر شده en
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نوع مقاله منتشر شده Brief Report(s)
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