Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers

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dc.authoridKurtulgan, Hande Kucuk -- 0000-0001-9172-3244; Oztemur, Zekeriya -- 0000-0003-2134-8797en_US
dc.contributor.authorOzdemir, Ozturk
dc.contributor.authorSezgin, Ilhan
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorCandan, Ferhan
dc.contributor.authorKoksal, Binnur
dc.contributor.authorSumer, Haldun
dc.contributor.authorIcagasioglu, Dilara
dc.contributor.authorUslu, Atilla
dc.contributor.authorYildiz, Fazilet
dc.contributor.authorArslan, Sulhattin
dc.contributor.authorCetinkaya, Selma
dc.contributor.authorCitli, Senol
dc.contributor.authorOztemur, Zekeriya
dc.contributor.authorKayatas, Mansur
dc.date.accessioned2019-07-27T12:10:23Z
dc.date.accessioned2019-07-28T10:05:36Z
dc.date.available2019-07-27T12:10:23Z
dc.date.available2019-07-28T10:05:36Z
dc.date.issued2011
dc.department[Ozdemir, Ozturk -- Sezgin, Ilhan -- Kurtulgan, Hande Kucuk -- Koksal, Binnur -- Yildiz, Fazilet -- Citli, Senol] Cumhuriyet Univ, Dept Med Genet, Fac Med, TR-58140 Sivas, Turkey -- [Ozdemir, Ozturk] COMU Univ, Dept Med Genet, Fac Med, TR-17100 Canakkale, Turkey -- [Candan, Ferhan] Cumhuriyet Univ, Dept Interior Med, Fac Med, TR-58140 Sivas, Turkey -- [Sumer, Haldun -- Cetinkaya, Selma] Cumhuriyet Univ, Dept Publ Hlth, Fac Med, TR-58140 Sivas, Turkey -- [Icagasioglu, Dilara] Cumhuriyet Univ, Dept Pediat, Fac Med, TR-58140 Sivas, Turkey -- [Uslu, Atilla] Istanbul Univ, Dept Physiol, Fac Med, TR-34039 Istanbul, Turkey -- [Arslan, Sulhattin] Cumhuriyet Univ, Dept Thorax Dis, Fac Med, TR-58140 Sivas, Turkey -- [Oztemur, Zekeriya] Cumhuriyet Univ, Dept Ortopedia, Fac Med, TR-58140 Sivas, Turkey -- [Kayatas, Mansur] Cumhuriyet Univ, Dept Nephrol, Fac Med, TR-58140 Sivas, Turkeyen_US
dc.description.abstractThe Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.en_US
dc.identifier.doi10.1007/s11033-010-9991-7en_US
dc.identifier.endpage3200en_US
dc.identifier.issn0301-4851
dc.identifier.issue5en_US
dc.identifier.pmid20165923en_US
dc.identifier.scopus2-s2.0-80052428205en_US
dc.identifier.scopusqualityQ2
dc.identifier.startpage3195en_US
dc.identifier.urihttps://dx.doi.org/10.1007/s11033-010-9991-7
dc.identifier.urihttps://hdl.handle.net/20.500.12418/9542
dc.identifier.volume38en_US
dc.identifier.wosWOS:000290102100044en_US
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSPRINGERen_US
dc.relation.ispartofMOLECULAR BIOLOGY REPORTSen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFMFen_US
dc.subjectAllelic frequenciesen_US
dc.subjectSivas populationen_US
dc.subjectTurkeyen_US
dc.titlePrevalence of known mutations in the MEFV gene in a population screening with high rate of carriersen_US
dc.typeArticleen_US

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