Bonyadi Mortaza, Esmaeili Mohsen, Karimi Abbas, Dastgiri Saeed
Genet Test Mol Biomarkers. 2010 Feb;14(1):149-51. doi: 10.1089/gtmb.2009.0087.
Familial Mediterranean fever (FMF) is an autosomal recessive disorder primarily affecting the Mediterranean populations. It is characterized by recurrent attacks of fever and inflammation of serosal membranes and gradual development of nephropathic amyloidosis. More than 70 disease-associated mutations have been identified in the Mediterranean fever gene (MEFV) responsible for FMF. The aim of this study was to determine the mutation carrier rate in the Iranian Azeri Turkish population. A cohort of 200 unrelated healthy individuals was screened for the five most common MEFV mutations (M694V, V726A, M680I, M694I, and E148Q) using the amplification refractory mutation system for the first four and by polymerase chain reaction-restriction-digestion testing for E148Q. Genotyping revealed that the carrier rate in the Azeri Turkish population was 25.5%, with E148Q being the most common mutation (11.5%) followed by V726A (1.75%). The remaining common mutations were not found in this cohort. Our data indicate that the FMF carrier rate and E148Q mutation frequency are high in the Iranian Azeri Turkish population.
家族性地中海热（FMF）是一种常染色体隐性疾病，主要影响地中海地区人群。其特征为发热反复发作、浆膜炎症以及肾病性淀粉样变的逐渐发展。在导致FMF的地中海热基因（MEFV）中已鉴定出70多种与疾病相关的突变。本研究的目的是确定伊朗阿塞拜疆土耳其人群中的突变携带率。使用扩增阻滞突变系统对前四个最常见的MEFV突变（M694V、V726A、M680I、M694I）进行筛查，并对200名无亲缘关系的健康个体组成的队列进行E148Q的聚合酶链反应-限制性消化检测。基因分型显示，阿塞拜疆土耳其人群中的携带率为25.5%，其中E148Q是最常见的突变（11.5%），其次是V726A（1.75%）。在该队列中未发现其余常见突变。我们的数据表明，伊朗阿塞拜疆土耳其人群中FMF携带率和E148Q突变频率较高。
