Frequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V)

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dc.contributor.authorGunesacar, Ramazan
dc.contributor.authorCelik, Muhammet Murat
dc.contributor.authorArica, Vefik
dc.contributor.authorElmacioglu, Sibel
dc.contributor.authorOzturk, Oktay Hasan
dc.date.accessioned2024-09-18T20:20:00Z
dc.date.available2024-09-18T20:20:00Z
dc.date.issued2014
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractIn the present study, 1000 patients with clinical suspicion of FMF were retrospectively reviewed to determine the spectrum of MEFV gene mutations by using DNA sequence analysis between September, 2008 and April, 2012. Sixteen different mutations and 55 different genotypes were detected in 618 of 1000 patients. Among 16 different mutations, R202Q (21.35%) was the most frequently observed mutation; followed by E148Q (8.85%), M694V (7.95%), M680I (2.40%), V726A (1.85%), M694I (0.95%), A744S (0.80%), R761H (0.55%), P283L (0.35%), K695R (0.20%), E230K (0.15%), L110P (0.10%), I247V (0.05%), G196W (0.05%) and G304R (0.05%). In the present study, a novel missense mutation (I247V) and a silent variant (G150G) were identified in the MEW gene. On the other hand, P238L, G632A and G304R mutations are the first cases reported from Turkey. Our results indicated that MEW mutations are highly heterogeneous in our study population as in other regions of Turkey and mutation screening techniques such as PCR-RFLP, amplification refractory mutation system or reverse hybridization do not adequately detect uncommon or novel mutations. Therefore, it was proven that sequence analysis of the MEW gene could be useful for detection of rare or unknown mutations. (C) 2014 Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.gene.2014.06.019
dc.identifier.endpage199en_US
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.issue2en_US
dc.identifier.pmid24929125en_US
dc.identifier.scopus2-s2.0-84903524459en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage195en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2014.06.019
dc.identifier.urihttps://hdl.handle.net/20.500.12483/10004
dc.identifier.volume546en_US
dc.identifier.wosWOS:000339150800009en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevieren_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 feveren_US
dc.subjectFMFen_US
dc.subjectMEFV geneen_US
dc.subjectMutationen_US
dc.titleFrequency of MEFV gene mutations in Hatay province, Mediterranean region of Turkey and report of a novel missense mutation (I247V)en_US
dc.typeArticleen_US

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