title: The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.
abstract: In this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to Kırıkkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey's mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the heterogeneity of MEFV mutations in Central Anatolia. The most three prevalent mutations were M694V (14.8%), E148Q (7.1%) and M680I(G/C) (4.1%) in accordance with the literature. We have also investigated R202Q in our routine molecular diagnosis. Mutation causing R202Q (c.605G > A) change was described as a frequent polymorphism and G allele was found in linkage disequilibrium (LD) with M694V. There are limited number of studies investigating R202Q, some of them implicate that its homozygote state is disease causing. We showed the high frequency of R202Q (23.7%) with and without M694V in all the groups analysed and its high LD rate with M694V in the diagnosed group. Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey's geographical regions and overall Turkey.
authors.affiliation: Department of Medical Genetics, School of Medicine, Kırıkkale University, 71450, Kirikkale, Turkey, dsayin@yahoo.com.
authors.forename: Derya Beyza
authors.initials: DB
authors.lastname: Sayın Kocakap
authors.forename: Ayşen
authors.initials: A
authors.lastname: Günel-Özcan
authors.forename: Feryal
authors.initials: F
authors.lastname: Çabuk
authors.forename: Cüneyt
authors.initials: C
authors.lastname: Ensari
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000473:pathology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D059645:Mutation Rate; D011110:Polymorphism, Genetic; D000071198:Pyrin; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin