سیمای ژن MEFV در شمال غربی ایران، مطالعه بر اساس 12 موتاسیون ژنتیکی در 216 بیمار مبتلا به ﺗﺐ ﻣﺪﻳﺘﺮاﻧﻪاي ﻓﺎﻣﻴﻠﻲ در اردبیل

صالح زاده, فرهاد and جعفری اصل, مهدی and حسینی اصل, سید سعید and جهانگیری, سپیده and حبیب زاده, شهرام (1393) سیمای ژن MEFV در شمال غربی ایران، مطالعه بر اساس 12 موتاسیون ژنتیکی در 216 بیمار مبتلا به ﺗﺐ ﻣﺪﻳﺘﺮاﻧﻪاي ﻓﺎﻣﻴﻠﻲ در اردبیل. Iranian Journal of Medical Sciences ــ 40 (1). pp. 68-72. شاپا 0253-0716

Text - Published Version

Official URL: http://ijms.sums.ac.ir/index.php/IJMS/article/view...


MEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever

English Abstract

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.

Item Type:Article
زبان سند : انگلیسی
نویسنده مسئول :فرهاد صالح زاده
نویسنده :مهدی جعفری اصل
نویسنده :سید سعید حسینی اصل
نویسنده :سپیده جهانگیری
نویسنده :شهرام حبیب زاده
Additional Information:Indexed in: PubMed/PMC , EMBASE , Scopus , CINAHL , EBSCO , CAB , ProQuest , DOAJ , Index Medicus for the WHO Eastern Mediterranean Region , Index Copernicus , ISC , Google Scholar
کلیدواژه ها (انگلیسی):Familial Mediterranean Fever , MEFV gene , Iran , Tel-Hashomer criteria
Subjects:QY Clinical Pathology
WB Practice of Medicine
WI Digestive System
WJ Urogenital System
Divisions:Faculty of Medicine > Department of Pediatrics , Community Medicine
Faculty of Medicine > Department of Internal Medicine , Cardiology , Infectious
Faculty of Medicine > Department of Basic Sciences > Department of Genetics
ID Code:6368
Deposited By: MS Soghra Golmaghani
Deposited On:04 Dec 1393 05:42
Last Modified:20 Feb 1399 15:35

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