title: Screening for Familial Mediterranean Fever M694V and V726A mutations in the Greek population.
abstract: Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease that primarily affects populations surrounding the Mediterranean basin. FMF patients suffer from recurrent episodes of fever accompanied by abdominal pain, pleuritis, and arthritis. Missense mutations in the gene for FMF (MEFV) have been shown to be responsible for the disease, while more than 70 mutations have been identified to date. The aim of the present study was to determine the carrier rates of two of the most common MEFV mutations, M694V and V726A, in the general Greek population. A cohort of 220 healthy and unrelated individuals of Greek descent was screened for the two MEFV mutations using the Amplification Refractory Mutation System. Our results showed that none of the healthy individuals tested were carriers of any of the two mutations. In conclusion, our study independently confirms that the carrier rate for the MEFV mutations M694V and V726A is extremely low in the general Greek population.
authors.forename: Vasiliki
authors.initials: V
authors.lastname: Gkretsi
authors.forename: Constantinos
authors.initials: C
authors.lastname: Deltas
authors.forename: Christos
authors.initials: C
authors.lastname: Yapijakis
authors.forename: Klea
authors.initials: K
authors.lastname: Lamnissou
mesh_terms: D016022:Case-Control Studies; D015331:Cohort Studies; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing; D005828:Genetics, Population; D006115:Greece / Q000453:epidemiology; D006579:Heterozygote; D006801:Humans; D009154:Mutation