The spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at K&Aumlaut +/- r&Aumlaut +/- kkale University in Turkey

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dc.contributor.authorGünel-Özcan, Ayşen
dc.contributor.authorSayin, Derya Beyza
dc.contributor.authorMısırlıoğlu, Emine Dibek
dc.contributor.authorGuliter, Sefa
dc.contributor.authorYakaryilmaz, Fahri
dc.contributor.authorEnsari, Cüneyt
dc.date.accessioned2020-06-25T17:48:30Z
dc.date.available2020-06-25T17:48:30Z
dc.date.issued2009
dc.departmentKırıkkale Üniversitesi
dc.description.abstractFamilial Mediterranean Fever (FMF) is an autosomal recessive genetic disorder characterised by recurrent and self-limited abdominal pain, synovitis and pleuritis. MEFV gene mutations are responsible from the disease and its protein product, pyrin or marenostrin, plays an essential role in the regulation of the inflammatory reactions. MEFV gene contains 10 exons and most of the mutations have been found on the last exon. Up to date, 152 mutations and polymorpisms have been reported inwhere V726A, M694V, M694I, M680I and E148Q are the most common mutations. In this study, MEFV allele frequencies of 136 individuals (60 from Pediatry, 76 from Internal Medicine) have been evaluated, and compared with each other. Asymptomatic individuals with FMF family history (4 from Pediatry, 6 from Internal Medicine) were excluded from the analysis. The prominent mutations indicated in the Pediatry group are V726A, M694V and M680I (G/C) and with the allele frequency of 0.06, 0.05 and 0.04 respectively while they were E148Q, M694V, M680I (G/C) in the Internal Medicine group with the allele frequency of 0.12, 0.08 and 0.04. The E148Q mutation is significantly overrepresented in the adult referrals (P = 0.02). Mutation on both alleles was observed in only 12% of cases. Overall mutation frequency was low, seen in 26.2% (66/252). However, when only diagnosed patients were analyzed it is 72.7% (16/22). It is also interesting that 63% of individuals are female that there may be sex influence on FMF phenotype.en_US
dc.identifier.citationclosedAccessen_US
dc.identifier.doi10.1007/s11033-008-9240-5
dc.identifier.endpage760en_US
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue4en_US
dc.identifier.pmid18389382
dc.identifier.scopus2-s2.0-61449228552
dc.identifier.scopusqualityQ2
dc.identifier.startpage757en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-008-9240-5
dc.identifier.urihttps://hdl.handle.net/20.500.12587/4472
dc.identifier.volume36en_US
dc.identifier.wosWOS:000263798400019
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reports
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.titleThe spectrum of FMF mutations and genotypes in the referrals to molecular genetic laboratory at K&Aumlaut +/- r&Aumlaut +/- kkale University in Turkeyen_US
dc.typeArticle

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