Significance of MEFV gene R202Q polymorphism in Turkish familial Mediterranean fever patients
Yazarlar (6)
Serbülent Yiğit Türkiye
Prof. Dr. Türker TAŞLIYURT Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Dr. Öğr. Üyesi Nihan BOZKURT Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Bünyamin Kısacık Türkiye
| Makale Türü | Özgün Makale (SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale) | ||
| Dergi Adı | GENE (Q4) | ||
| Dergi ISSN | 0378-1119 Wos Dergi Scopus Dergi | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | İngilizce | Basım Tarihi | 09-2012 |
| Cilt / Sayı / Sayfa | 506 / 1 / 43–45 | DOI | 10.1016/j.gene.2012.06.074 |
| Makale Linki | S0378111912007846?via%3Dihub | ||
| Özet |
| OBJECTIVE Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent attacks of fever and inflammation in the peritoneum, synovium, or pleura, accompanied by pain. The disease is associated with mutations in the Mediterranean fever (MEFV) gene, which encodes for the pyrin protein. The aim of this study was to explore the frequency and clinical significance of the R202Q (c.605G>A) polymorphism in exon 2 of the MEFV gene in a cohort of Turkish patients with FMF. METHODS The study included 191 patients with FMF and 150 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR)-based restriction fragment length polymorphism (RFLP) assay for the MEFV gene R202Qpolymorphism. RESULTS The genotype and allele frequencies of R202Q polymorphism showed a statistically significant difference between FMF patients and … |
| Anahtar Kelimeler |
| Familial Mediterranean fever (FMF) | MEFV gene | R202Q |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| Google Scholar | 66 |
| Web of Science | 44 |