Mutation screening of familial Mediterranean fever in the Azeri Turkish population: Genotype-phenotype correlation and the clinical profile variability
نویسندگان
چکیده
منابع مشابه
Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.
BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting particularly Arabs, Non-Ashkenazi Jews, Armenians, and Turks. It is an autoinflammatory periodic disorder characterized by febrile and painful attacks due to inflammation involving the serosal membranes in the abdomen, chest or joints. Over 50 mutations have been identified in the MEFV gene responsi...
متن کاملGenotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis.
OBJECTIVES Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identified. The results of initial mutation studies have led to the hypothesis that phen...
متن کاملFMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis
Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...
متن کاملCommon MEFV mutation analysis in Iranian Azeri Turkish patients with familial Mediterranean fever.
OBJECTIVES To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations among Azeri Turkish patients from northwestern Iran. METHODS One hundred ninety unrelated patients were referred by specialists to the Molecular-Medical Genetic Center of Tabriz. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV g...
متن کاملThe MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population
The aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profi...
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ژورنال
عنوان ژورنال: ABI Genetika
سال: 2014
ISSN: 0534-0012,1820-6069
DOI: 10.2298/gensr1402611g