title: The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.
abstract: Familial Mediterranean fever (FMF) is defined as an inherited and autosomal recessive disease. Many researches have been done about this subject, and we believe that it should be necessary to focus on phenotype-genotype correlation, especially novel mutation types. We aim to announce the results of FMF sequence analysis in Kahramanmaras/Turkey. The number of participants is 380 males and 451 females who clinically diagnosed as FMF subjects of different age groups. Genomic sequences of exons 2 and 10 and in some cases exon 3 of the MEFV gene were scanned for mutations by sequence analyzer. The most common mutation identified in 230 (57.07 %) patients is heterozygous. The frequencies of mutation types in heterozygous subjects are R202Q (39.13 %), E148Q (18.70 %), M680I (16.52 %), M694V (13.91 %), and V726A (4.78 %), respectively. The most striking point among the compound heterozygous subjects is R202Q/M694V mutation type found at the highest rate (32 subjects). Fever and peritonitis are the most frequent signs of homozygous M694V and combine heterozygous mutations. Interestingly, the rate of homozygous mutation types (M694V/M694V+ R202Q/R202Q) is 96.70 % among all compound homozygous mutation types. The most frequent rate of homozygous patients is M680I mutation types (68.42 % in all homozygous mutation types). Two novel mutations were found in this study: N206K (p.Asn206Lys) and S208T (p.Ser208Tyr). Our findings in this study on the FMF sequence analysis are different from the results obtained from the other regions of Turkey.
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. kilincmtr@yahoo.com.
authors.forename: Metin
authors.initials: M
authors.lastname: Kilinc
authors.affiliation: Department of Bioengineering, Institute of Science, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. Eda.ganiyusufoglu@hotmail.com.
authors.forename: Eda
authors.initials: E
authors.lastname: Ganiyusufoglu
authors.affiliation: Department of Medical Biochemistry, Institute of Health Sciences, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. hatice2023@hotmail.com.
authors.forename: Hatice
authors.initials: H
authors.lastname: Sager
authors.affiliation: Department of Medical Biochemistry, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. drahmetcelik@gmail.com.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Celik
authors.affiliation: Department of Pediatric Cardiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. serefolgar@yahoo.com.
authors.forename: Seref
authors.initials: S
authors.lastname: Olgar
authors.affiliation: Department of Rheumatology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. gozdeyildirimcetin@yahoo.com.
authors.forename: Gozde Yildirim
authors.initials: GY
authors.lastname: Cetin
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. drmdavutoglu@hotmail.com.
authors.forename: Mehmet
authors.initials: M
authors.lastname: Davutoglu
authors.affiliation: Department of Nephrology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Avsar Campus, 46050, Kahramanmaras, Turkey. orcunaltunoren@hotmail.com.
authors.forename: Orcun
authors.initials: O
authors.lastname: Altunoren
mesh_terms: D000293:Adolescent; D003598:Cytoskeletal Proteins / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D019083:Mediterranean Region; D009154:Mutation; D010641:Phenotype; D000071198:Pyrin; D017422:Sequence Analysis, DNA; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin
keywords: FMF; Kahramanmaras; Mutations; Turkey