Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

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dc.contributor.authorZamani, A. G.
dc.contributor.authorAcar, A.
dc.contributor.authorYildirim, M. S.
dc.date.accessioned2024-02-23T14:38:02Z
dc.date.available2024-02-23T14:38:02Z
dc.date.issued2013
dc.departmentNEÜen_US
dc.description.abstractThe purpose of this study was to determine the spectrum of the most common mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients from the Central Anatolia region, by using two different methods for detecting FMF-associated mutations with different screening panels, and compare our results with other diagnostic molecular genetics centers. A total of 1579 patients were analyzed. Genomic DNA from 304 patients was tested for 6 common mutations located in exon 2 (E148Q), and exon 10 (M680I, M694V, M694I, V726A, R761H) by real-time PCR while 1275 patients were tested for 17 mutations located in exon 2 (E148Q), and exon10 [M680I (G/C), M680I (G/A), I692del, M694V, M694I, K695R, V726A, S675N, G678E, M680L, T681I, M694L, K695M, R717S, I720M, V722M] by pyrosequencing. The most frequent mutation was M694V, followed by M680I, E148Q, and V726A. Ten mutations in the panel were not detected in any patients. Finally, we compared our results with those of other centers in Turkey to contribute to the identified spectrum of Turkish MEFV mutations and we discuss which MEFV mutations are informative for evaluating an FMF patient.en_US
dc.identifier.doi10.4238/2013.October.29.9
dc.identifier.endpage5159en_US
dc.identifier.issn1676-5680
dc.identifier.issue4en_US
dc.identifier.pmid24301775en_US
dc.identifier.scopus2-s2.0-84887330993en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage5152en_US
dc.identifier.urihttps://doi.org/10.4238/2013.October.29.9
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16341
dc.identifier.volume12en_US
dc.identifier.wosWOS:000331608000103en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherFunpec-Editoraen_US
dc.relation.ispartofGenetics And Molecular Researchen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMefv Geneen_US
dc.subjectFmfen_US
dc.subjectMutationen_US
dc.subjectMolecular Diagnosisen_US
dc.titleSpectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection systemen_US
dc.typeArticleen_US

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