Galip Nilüfer, Dalkan Ceyhun, Terali Ayşe, Çobanoğlu Nazan, Ülgenalp Ayfer, Bahçeciler Nerin, Kavukçu Salih
Department of Pediatrics, Near East University Faculty of Medicine, Lefkoşa, Turkish Republic of Northern Cyprus.
Department of Pediatrics, Division of Pediatric Pulmonology, Medical Faculty of Ankara University, Ankara, Turkey.
Arch Rheumatol. 2016 Aug 17;32(1):10-14. doi: 10.5606/ArchRheumatol.2017.5791. eCollection 2017 Mar.
This study aims to determine the carrier frequency and the most common mutations of the Mediterranean FeVer (MEFV) gene in healthy Cypriot population of Turkish origin.
A total of 296 healthy participants (102 males, 194 females; median age 30 years; range 1 to 81 years) were evaluated. The exon 2, 3, 5 and 10 of MEFV genes were amplified by polymerase chain reaction.
The participants demonstrated an extremely high carrier rate (12.5%). Most commonly detected mutations were E148Q and A74S, with rates of 7.3% and 2.8%, respectively.
Mediterranean FeVer gene mutation types and carrier rates in Turkish Cypriot population are different than other Mediterranean populations in the region. MEFV mutation carriage is frequent in North Cyprus and familial Mediterranean fever might be one of the causes for end stage renal disease in Turkish Cypriots.
本研究旨在确定土族塞人健康群体中地中海热（MEFV）基因的携带频率及最常见突变。
共评估了296名健康参与者（102名男性，194名女性；中位年龄30岁；年龄范围1至81岁）。通过聚合酶链反应扩增MEFV基因的第2、3、5和10外显子。
参与者显示出极高的携带率（12.5%）。最常检测到的突变是E148Q和A74S，发生率分别为7.3%和2.8%。
北塞浦路斯土族人群中的地中海热基因突变类型和携带率与该地区其他地中海人群不同。MEFV突变携带在北塞浦路斯很常见，家族性地中海热可能是土族塞人终末期肾病的原因之一。
