MEFV gene mutation distrubution in Azerbaijan population
Makaleler > Tam Makale · 2015
Yazarlar: Afig BERDELİ, G Mukhtarova, A Oz, S Musayev
Pediatric Rheumatology, Uluslararası, Wos, 2015, cilt 13
DOI: 10.1186/1546-0096-13-s1-p127
Özet
Familial Mediterranean fever (FMF)(MIM 249100) is a hereditary autoinflammatory disorder characterized by episodes of inflammation in the absence of high-titer autoantibodies or antigen-specific T cells. The Mediterranean fever (MEFV) gene(OMIM 608107) located on chromosome 16p13.3, which encodes the 781-amino-acid protein pyrin, is the causative gene for this monogenic Mendelian disease. This study presents the molecular analysis of an MEFV gene mutation screen of 268 patients from Azerbaijan Republic, with clinical diagnoses of FMF.