title: Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population.
abstract: Familial Mediterranean Fever (FMF) is a recessive disorder characterised by episodes of fever and neutrophil-mediated serozal inflammation. The FMF gene (MEFV) was recently identified and four common mutations characterised. The aim of this study was to determine the carrier rate in the Turkish population and the mutation frequency in the clinically diagnosed FMF patients. We found a high frequency of carriers in the healthy Turkish population (20%). The distribution of the five most common MEFV mutations among healthy individuals (M694V 3%, M680I 5%, V726A 2%, M694I 0% and E148Q 12%) was significantly different (P<0.005) from that found in patients (M694V 51.55%, M680I 9.22%, V726A 2.88%, M694I 0.44% and E148Q 3.55%).
authors.affiliation: Hacettepe University, Faculty of Medicine, Department of Medical Biology, Ankara, Turkey. engin@gen.hun.edu.tr
authors.forename: E
authors.initials: E
authors.lastname: Yilmaz
authors.forename: S
authors.initials: S
authors.lastname: Ozen
authors.forename: B
authors.initials: B
authors.lastname: Balci
authors.forename: A
authors.initials: A
authors.lastname: Duzova
authors.forename: R
authors.initials: R
authors.lastname: Topaloglu
authors.forename: N
authors.initials: N
authors.lastname: Besbas
authors.forename: U
authors.initials: U
authors.lastname: Saatci
authors.forename: A
authors.initials: A
authors.lastname: Bakkaloglu
authors.forename: M
authors.initials: M
authors.lastname: Ozguc
mesh_terms: D000483:Alleles; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D014421:Turkey