Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population

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dc.contributor.authorKoksal, Binnur
dc.contributor.authorNur, Naim
dc.contributor.authorSari, Musa
dc.contributor.authorCandan, Ferhan
dc.contributor.authorAcemoglu, Mursit
dc.contributor.authorKocak, Nadir
dc.contributor.authorOzen, Filiz
dc.contributor.authorOzdemir, Ozturk
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T10:14:23Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T10:14:23Z
dc.date.issued2009
dc.department[Koksal, Binnur -- Kocak, Nadir -- Ozen, Filiz -- Ozdemir, Ozturk] Cumhuriyet Univ, Dept Med Genet, Fac Med, TR-58140 Sivas, Turkey -- [Sari, Musa] Cumhuriyet Univ, Dept Biol, Fac Sci, TR-58140 Sivas, Turkey -- [Candan, Ferhan] Cumhuriyet Univ, Dept Interior Med, Fac Med, TR-58140 Sivas, Turkey -- [Acemoglu, Mursit] Sivas Social Insurance Hosp, Dept Pediat, TR-58140 Sivas, Turkeyen_US
dc.description.abstractFamilial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis. The aim of the current study is to determine the frequency of the mutations in 365 suspected FMF patients and to reveal whether there is a correlation between genotype and phenotype of these patients. All patients were clinically examined according to Tell-Hashomer FMF criteria and were screened genetically in terms of common 12 Mediterranean fever gene (MEFV) mutations. Various point mutations were detected in 270 (74%) patients. The most frequent mutation was M694V (26.85% of the alleles) and was followed by E148Q (15.55%), M680I (G/C) (9.62%) and V726A (7.96%). Patients who bear M694V homozygous mutation had most severe disease phenotype and high risk for amyloidosis (P = 0.04). Our results indicate that Sivas population has a wide range of heterozygous mutated carriers of MEFV gene and there is a high frequency of E148Q allele when compared to the other Mediterranean groups.en_US
dc.identifier.doi10.2478/s11756-009-0047-1en_US
dc.identifier.endpage393en_US
dc.identifier.issn0006-3088
dc.identifier.issn1336-9563
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-67049132791en_US
dc.identifier.scopusqualityQ3
dc.identifier.startpage388en_US
dc.identifier.urihttps://dx.doi.org/10.2478/s11756-009-0047-1
dc.identifier.urihttps://hdl.handle.net/20.500.12418/10161
dc.identifier.volume64en_US
dc.identifier.wosWOS:000263540800026en_US
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherSPRINGERen_US
dc.relation.ispartofBIOLOGIAen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFamilial Mediterranean feveren_US
dc.subjectmutation in MEFVen_US
dc.subjectamyloidosisen_US
dc.subjectgenotype-phenotype correlationsen_US
dc.titleClinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas populationen_US
dc.typeArticleen_US

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