Korkmaz D T, Atak P G, Çelik Ç
Vocational School of Health Services, Adıyaman University, Adıyaman, Turkey.
Adıyaman Obstetrics and Gynecology & Child Diseases Hospital, Adıyaman, Turkey.
Balkan J Med Genet. 2015 Apr 10;17(2):67-71. doi: 10.2478/bjmg-2014-0076. eCollection 2014 Dec.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by fever and serosal inflammation. The reasons for the disorder are mutations in the Mediterranean fever (MEFV) gene; the most common of which are M694V, M680I, M694I and V726A. In this study, we aimed to screen these common mutations of the MEFV gene and then determine the prevalence of FMF according to these mutations in Adıyaman, Southeast Anatolia, Turkey. Seven hundred and sixty-seven healthy individuals from the region of Adıyaman participated in the study. Polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) methods were used to determine the common mutations of the MEFV gene. Twenty-six (3.9%) individuals had only one mutation in the MEFV gene, 25 individuals were heterozygous and one person was homozygous for the V726A mutation (0.15%). In the present study, the V726A mutation (50.0%) was the most frequent, followed by M694V (38.5%), M680I (7.7%) and M694I (3.8%). It was seen that the carrier rate was very low and the prevalence of FMF was 0.15%, according to the common mutations of the MEFV gene in Adıyaman, Southeast Anatolia, Turkey.
家族性地中海热（FMF）是一种常染色体隐性疾病，其特征为发热和浆膜炎症。该疾病的病因是地中海热（MEFV）基因突变；其中最常见的是M694V、M680I、M694I和V726A。在本研究中，我们旨在筛查MEFV基因的这些常见突变，然后根据土耳其安纳托利亚东南部阿迪雅曼地区的这些突变确定FMF的患病率。来自阿迪雅曼地区的767名健康个体参与了该研究。采用聚合酶链反应-扩增阻滞突变系统（PCR-ARMS）方法来确定MEFV基因的常见突变。26名（3.9%）个体在MEFV基因中仅有一个突变，25名个体为杂合子，1人为V726A突变纯合子（0.15%）。在本研究中，V726A突变（50.0%）最为常见，其次是M694V（38.5%）、M680I（7.7%）和M694I（3.8%）。根据土耳其安纳托利亚东南部阿迪雅曼地区MEFV基因的常见突变情况，发现携带率非常低，FMF患病率为0.15%。
