title: Analysis of common MEFV mutations in Egyptian patients with familial Mediterranean fever: molecular characterisation of the disease.
abstract: Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder transmitted as an autosomal recessive trait. It predominantly affects people living in, or originating from, areas around the Mediterranean and was difficult to diagnose until mutations in the MEFV gene were identified. This study aims to analyse the five most common MEFV mutations in Egyptian patients diagnosed clinically as FME Thirty-eight unrelated patients were tested for the presence of the MEFV gene mutations V726A, M694V, M694I, M680I and E148Q, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the amplification refractory mutation system (ARMS). Twenty-three patients (60.5%) had one or more mutations, whereas no mutation was found in the remaining 15 patients (39.5%). The most common mutation was M694I (42.5%), followed by V726A (22.5%), M680I (17.5%) and E148Q (17.5%). The M694V mutation was not detected. The profile of MEFV gene mutations in this study suggests that the origin of FMF in Egypt is heterogeneous, a finding in concordance with that for other Arab populations; however, some differences were observed as M694V, the most common mutation reported in Arabs, was not detected in this study.
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, Suez Canal University, Ismailia, Egypt. dr_ghamer@yahoo.fr
authors.forename: G H
authors.initials: GH
authors.lastname: Ibrahim
authors.forename: F A
authors.initials: FA
authors.lastname: Khalil
authors.forename: F
authors.initials: F
authors.lastname: Mostafa
authors.forename: M S
authors.initials: MS
authors.lastname: Fawzy
authors.forename: M
authors.initials: M
authors.lastname: Said
authors.forename: A E
authors.initials: AE
authors.lastname: Omar
authors.forename: T B
authors.initials: TB
authors.lastname: El-Abaseri
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D004534:Egypt; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D000071198:Pyrin; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin