Comprehensive Analysis of a Large-Scale Screen for MEFV Gene Mutations: Do They Truly Provide a "Heterozygote Advantage" in Turkey?

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dc.contributor.authorBerdeli, Afig
dc.contributor.authorMir, Sevgi
dc.contributor.authorNalbantoglu, Sinem
dc.contributor.authorKutukculer, Necil
dc.contributor.authorSozeri, Betul
dc.contributor.authorKabasakal, Yasemin
dc.contributor.authorCam, Sirri
dc.contributor.authorSolak, Mustafa
dc.date.accessioned2019-10-27T21:37:56Z
dc.date.available2019-10-27T21:37:56Z
dc.date.issued2011
dc.departmentEge Üniversitesien_US
dc.description.abstractFamilial Mediterranean fever (FMF) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian disease. This study presents the molecular analysis of an MEFV gene mutation screen of 5518 Turkish individuals with clinical diagnoses of FMF. Patients were genetically diagnosed using the FMF StripAssay and DNA sequencing analysis. Contrary to the results achieved by the FMF StripAssay, DNA sequencing analysis identified large-scale coding and noncoding novel sequence variants, together with a significant group (76%) of individuals who were receiving colchicine and had a single heterozygous mutation, despite the recessive inheritance of FMF. In conclusion, sequence analysis, unlike other routine laboratory techniques, may enable screening for a broad range of nucleotide variations and may prevent less common, population-restricted, novel sequence variants from being overlooked.en_US
dc.identifier.doi10.1089/gtmb.2010.0146en_US
dc.identifier.endpage482en_US
dc.identifier.issn1945-0265
dc.identifier.issue07.Augen_US
dc.identifier.pmid21413889en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage475en_US
dc.identifier.urihttps://doi.org/10.1089/gtmb.2010.0146
dc.identifier.urihttps://hdl.handle.net/11454/46289
dc.identifier.volume15en_US
dc.identifier.wosWOS:000292773700004en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMary Ann Liebert Incen_US
dc.relation.ispartofGenetic Testing and Molecular Biomarkersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleComprehensive Analysis of a Large-Scale Screen for MEFV Gene Mutations: Do They Truly Provide a "Heterozygote Advantage" in Turkey?en_US
dc.typeArticleen_US

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