The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey

Basit Öğe Kaydı
dc.contributor.authorKocakap, Derya Beyza Sayin
dc.contributor.authorGunel-Ozcan, Aysen
dc.contributor.authorCabuk, Feryal
dc.contributor.authorEnsari, Cuneyt
dc.date.accessioned2020-06-25T18:12:18Z
dc.date.available2020-06-25T18:12:18Z
dc.date.issued2014
dc.departmentKırıkkale Üniversitesi
dc.description.abstractIn this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to KA +/- rA +/- kkale 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.en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1007/s11033-013-2986-4
dc.identifier.endpage1426en_US
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue3en_US
dc.identifier.pmid24381109
dc.identifier.scopus2-s2.0-84896058483
dc.identifier.scopusqualityQ2
dc.identifier.startpage1419en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-013-2986-4
dc.identifier.urihttps://hdl.handle.net/20.500.12587/5857
dc.identifier.volume41en_US
dc.identifier.wosWOS:000332000400025
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectMEFVen_US
dc.subjectMutationen_US
dc.subjectTurkeyen_US
dc.subjectAllelic frequenciesen_US
dc.titleThe frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkeyen_US
dc.typeArticle

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