Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, 58140 Sivas, Turkey.
Mol Biol Rep. 2011 Jun;38(5):3195-200. doi: 10.1007/s11033-010-9991-7. Epub 2010 Feb 18.
The Familial Mediterranean Fever (FMF) shows an autosomal recessive pattern of inheritance and affects certain ethnic groups. Disease is caused by mutations in MEFV gene and more than 180 mutations have been defined in affected individuals. Current study aimed to determine the frequency-type of the mutations for MEFV gene in Sivas-middle Anatolian city. The cohort was composed of 3340 patients. MEFV gene mutations were studied by multiplex PCR based reverse hybridization stripAssay method. Patients' clinical features were; family history: 68%, erysipelas-like erythema: 17.6%, fever: 89.9%, abdominal pain: 84.2%, peritonitis: 90.2%, arthritis: 33%, pleuritis: 14.2%, parental consanguinity: 21.2%. Current results revealed that M694V is the most frequent mutation (43.12%), followed by E148Q (20.18), M680I(G/C) (15.00%) and V726A (11.32%). The study population has a high rate of carriers and the E148Q mutation frequency was found to be highest when compared to the other regions of Turkey and other Mediterranean groups.
家族性地中海热（FMF）呈常染色体隐性遗传模式，影响某些特定族群。该病由 MEFV 基因突变引起，在受影响个体中已定义了超过 180 种突变。本研究旨在确定中安纳托利亚城市锡瓦斯的 MEFV 基因突变的频率类型。该队列由 3340 名患者组成。通过基于多重 PCR 的反向杂交条带分析方法研究 MEFV 基因突变。患者的临床特征为：家族史：68%，丹毒样红斑：17.6%，发热：89.9%，腹痛：84.2%，腹膜炎：90.2%，关节炎：33%，胸膜炎：14.2%，父母近亲结婚：21.2%。目前的结果表明，M694V 是最常见的突变（43.12%），其次是 E148Q（20.18%）、M680I（G/C）（15.00%）和 V726A（11.32%）。研究人群的携带者率很高，与土耳其其他地区和其他地中海地区群体相比，E148Q 突变频率最高。
