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

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dc.authoridOztemur, Zekeriya/0000-0003-2134-8797
dc.authoridAYDIN, SELMA/0000-0003-4231-3980
dc.authoridcitli, senol/0000-0001-6226-4712
dc.authoridKucuk KURTULGAN, Hande/0000-0001-9172-3244
dc.contributor.authorÖzdemir, Öztürk
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.date.accessioned2025-01-27T20:29:38Z
dc.date.available2025-01-27T20:29:38Z
dc.date.issued2011
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
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.
dc.identifier.doi10.1007/s11033-010-9991-7
dc.identifier.endpage3200
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue5
dc.identifier.pmid20165923
dc.identifier.startpage3195
dc.identifier.urihttps://doi.org/10.1007/s11033-010-9991-7
dc.identifier.urihttps://hdl.handle.net/20.500.12428/23003
dc.identifier.volume38
dc.identifier.wosWOS:000290102100044
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofMolecular Biology Reports
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WoS_20250125
dc.subjectFMF
dc.subjectAllelic frequencies
dc.subjectSivas population
dc.subjectTurkey
dc.titlePrevalence of known mutations in the MEFV gene in a population screening with high rate of carriers
dc.typeArticle

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