Prevalence of MEFV gene mutations in apparently healthy Slovenian and Macedonian population
نویسندگان
چکیده
Background Familial Mediterranean Fever (FMF) is an autosomalrecessive disorder characterized by recurrent attacks of fever and serositis. It is common in eastern Mediterranean population. There are only few FMF patients in Slovenia and Macedonia and the mutation carrier rate is not known. So far, over 80 disease associated mutations have been identified in MEFV gene; the most common are M694V, V726A, M680I, E148Q and M694I.The distribution pattern of MEFV mutation along the Mediterranean Sea is not uniform; eastern populations have the highest number of carriers (20-39%), whereas the number of carriers in western Mediterranean populations is considerably lower.
منابع مشابه
MEFV Gene Variant Alleles in Normal Population of Northwest of Iran, Ardabil Province
Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and nor...
متن کاملCommon MEFV mutations (M694V, V726A, M680I, M694I, and E148Q ) in patients with Behcet\'s disease in Ardabil
Background and objectives: Behcet's Disease (BD) is a rare severe recurrent inflammatory disorder affecting several body organs. Since Familial Mediterranean Fever (FMF) and BD affect almost a specific population, both diseases can mimic the other clinically, and these two diseases sometimes occur in the same family and the same patient, also due to the high prevalence of BD in Iran and perform...
متن کاملMEFV gene mutations in Egyptian children with Henoch-Schonlein purpura
BACKGROUND Due to an increased frequency of vasculitis in FMF patients, many investigators have studied MEFV mutations in patients with HSP. The aim of the study is to investigate the frequency and clinical significance of MEFV mutations in Egyptian children with Henoch-Schonlein purpura (HSP). Investigating MEFV mutations in controls may help in estimating the prevalence of MEFV mutation carri...
متن کاملMEFV Gene Profile in Northwest of Iran, Twelve Common MEFV Gene Mutations Analysis in 216 Patients with Familial Mediterranean Fever
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, pr...
متن کاملMEFV mutations in Northwest of Iran: a cross sectional study
Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Irani...
متن کامل