Prevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkey

Basit Öğe Kaydı
dc.authoridYesilada, Elif/0000-0002-3743-5767
dc.authoridtaskapan, hulya/0000-0001-8736-4779
dc.authorwosidYesilada, Elif/ABG-9600-2020
dc.authorwosidtaskapan, hulya/ABI-7737-2020
dc.contributor.authorYesilada, Elif
dc.contributor.authorTaskapan, Hulya
dc.contributor.authorGulbay, Gonca
dc.date.accessioned2024-08-04T20:36:11Z
dc.date.available2024-08-04T20:36:11Z
dc.date.issued2012
dc.departmentİnönü Üniversitesien_US
dc.description.abstractFamilial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and serositis. Mutations in the Mediterranean fever gene (MEFV) localized on the short arm of chromosome 16 cause FMF. Over 90 MEFV missense/nonsense mutations have been identified so far in FMF patients, mostly in the 10th exon of the gene. In this study, the molecular test results of 891 patients identified as having FMF clinical symptoms referred to Molecular Genetics Laboratory of the Department of Medical Biology and Genetics, Faculty of Medicine, Inonu University, Malatya/Turkey were retrospectively evaluated. Patients were referred by their physicians for MEFV mutation detection. The DNA fragments including hot spots within the coding sequences of the MEFV gene were amplified by PCR using genomic DNA and analyzed by pyrosequencing technique. Of the 891 patients investigated, 420 (47.13%) had at least one mutation. The most frequent mutation was E148Q, followed by M694V, M680I (G/C), P369S, V726A, R761H, A744S, M694I, K695R and F479L mutations. In addition, a novel missense mutation (M694K) was reported in seven members of a family in the course of mutation screening of patients. (C) 2012 Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.gene.2012.09.073
dc.identifier.endpage374en_US
dc.identifier.issn0378-1119
dc.identifier.issue2en_US
dc.identifier.pmid23031807en_US
dc.identifier.scopus2-s2.0-84868211852en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage371en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2012.09.073
dc.identifier.urihttps://hdl.handle.net/11616/95843
dc.identifier.volume511en_US
dc.identifier.wosWOS:000313024700034en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Bven_US
dc.relation.ispartofGeneen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial Mediterranean fever (FMF)en_US
dc.subjectMEFV geneen_US
dc.subjectPyrinen_US
dc.subjectMutationen_US
dc.titlePrevalence of known mutations and a novel missense mutation (M694K) in the MEFV gene in a population from the Eastern Anatolia Region of Turkeyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu