Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population

Basit Öğe Kaydı
dc.contributor.authorCoşkun, Salih
dc.contributor.authorKurtgöz, Serkan
dc.contributor.authorKeskin, Ece
dc.contributor.authorSönmez, Ferah
dc.contributor.authorBozkurt, Gökay
dc.date.accessioned2024-04-24T17:56:05Z
dc.date.available2024-04-24T17:56:05Z
dc.date.issued2015
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.description.abstractFamilial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations and to investigate the clinical characteristics and genotype–phenotype correlation in patients with FMF in Aydın, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed MEFVgene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The MEFV gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydın in which the distribution of MEFVgene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients.en_US
dc.identifier.citationCoşkun, S., Kurtgöz, S., Keskin, E., Sönmez, F. ve Bozkurt, G. (2015). Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population. Journal of Genetics, 94(4), 629-635.
dc.identifier.doi10.1007/s12041-015-0568-z
dc.identifier.endpage635en_US
dc.identifier.issn0022-1333
dc.identifier.issue4en_US
dc.identifier.pmid26690517
dc.identifier.scopus2-s2.0-84953635318
dc.identifier.scopusqualityQ3
dc.identifier.startpage629en_US
dc.identifier.urihttps://doi.org/10.1007/s12041-015-0568-z
dc.identifier.urihttps://hdl.handle.net/11468/23275
dc.identifier.urihttps://link.springer.com/article/10.1007/s12041-015-0568-z
dc.identifier.volume94en_US
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherSpringer Indiaen_US
dc.relation.ispartofJournal of Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAllelic frequenciesen_US
dc.subjectFamilial mediterranean feveren_US
dc.subjectGenotype–phenotype correlationen_US
dc.subjectMefv geneen_US
dc.subjectP.R761hen_US
dc.titleFrequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish populationen_US
dc.titleFrequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
Frequency of mutations in Mediterranean fever gene, with gender and genotype–phenotype correlations in a Turkish population.pdf
Boyut:
504.38 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Makale Dosyası
İndir

Koleksiyon

Scopus İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu