title: Familial Mediterranean fever gene mutations in north-eastern part of Anatolia with special respect to rare mutations.
abstract: We aimed to determine the frequency of mutations, carrier rates and the association of rare mutations with Familial Mediterranean Fever (FMF) symptoms. There is a need to evaluate as many different populations as possible in order to determine either specific rare mutations or a range of disease-associated mutations. The demographic data and FMF symptoms related to MEFV gene mutations were collected from 731 participants. Exon 2 and exon 10 of the MEFV gene were tested by DNA sequencing. The rare mutations were identified as: M694I (1.1%, n=12), E148V (0.6%, n=6), T267I (0.5%, n=5), L110P (0.2%, n=2), E167D (0.2%, n=2), K695R (0.1%, n=1) and an insertion G (Guanine) mutation (0.4%, n=4) at the 777th codon of exon 10. We used routine comprehensive detection systems such as Sanger sequence that can catch rare mutations, for definite diagnosis and treatment of FMF disease.
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Ataturk University, Erzurum, Turkey.
authors.forename: Hasan
authors.initials: H
authors.lastname: Dogan
authors.affiliation: Department of Medical Genetics, School of Medicine, Yeditepe University, Istanbul, Turkey.
authors.forename: Omer
authors.initials: O
authors.lastname: Faruk Bayrak
authors.affiliation: Department of Emergency Medicine, Faculty of Medicine, Ataturk University, Erzurum, Turkey.
authors.forename: Mucahit
authors.initials: M
authors.lastname: Emet
authors.affiliation: Department of Internal Medicine, Faculty of Medicine, Mevlana University, Konya, Turkey.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Keles
authors.affiliation: Department of Medical Genetics, School of Medicine, Yeditepe University, Istanbul, Turkey.
authors.forename: Sukru
authors.initials: S
authors.lastname: Gulluoglu
authors.affiliation: Department of Genetics and Bioengineering, Faculty of Eng. and Arch., Yeditepe University, Istanbul, Turkey.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Gul
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, Katip Celebi University, Izmir, Turkey.
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Pirim
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D000071198:Pyrin; D014421:Turkey; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: DNA sequencing; FMF; MEFV; Rare mutation