title: Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.
abstract: The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, 58140 Sivas, Turkey. ozdemiro@cumhuriyet.edu.tr
authors.forename: Oztürk
authors.initials: O
authors.lastname: Ozdemir
authors.forename: Ilhan
authors.initials: I
authors.lastname: Sezgin
authors.forename: Hande Kucuk
authors.initials: HK
authors.lastname: Kurtulgan
authors.forename: Ferhan
authors.initials: F
authors.lastname: Candan
authors.forename: Binnur
authors.initials: B
authors.lastname: Koksal
authors.forename: Haldun
authors.initials: H
authors.lastname: Sumer
authors.forename: Dilara
authors.initials: D
authors.lastname: Icagasioglu
authors.forename: Atilla
authors.initials: A
authors.lastname: Uslu
authors.forename: Fazilet
authors.initials: F
authors.lastname: Yildiz
authors.forename: Sulhattin
authors.initials: S
authors.lastname: Arslan
authors.forename: Selma
authors.initials: S
authors.lastname: Cetinkaya
authors.forename: Senol
authors.initials: S
authors.lastname: Citli
authors.forename: Zekeriya
authors.initials: Z
authors.lastname: Oztemur
authors.forename: Mansur
authors.initials: M
authors.lastname: Kayatas
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002353:Carrier State; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071198:Pyrin; D014421:Turkey / Q000453:epidemiology / Q000208:ethnology; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin