Gkretsi Vasiliki, Deltas Constantinos, Yapijakis Christos, Lamnissou Klea
Genet Test Mol Biomarkers. 2009 Jun;13(3):291-3. doi: 10.1089/gtmb.2008.0101.
Familial Mediterranean Fever (FMF) is an autosomal recessive genetic disease that primarily affects populations surrounding the Mediterranean basin. FMF patients suffer from recurrent episodes of fever accompanied by abdominal pain, pleuritis, and arthritis. Missense mutations in the gene for FMF (MEFV) have been shown to be responsible for the disease, while more than 70 mutations have been identified to date. The aim of the present study was to determine the carrier rates of two of the most common MEFV mutations, M694V and V726A, in the general Greek population. A cohort of 220 healthy and unrelated individuals of Greek descent was screened for the two MEFV mutations using the Amplification Refractory Mutation System. Our results showed that none of the healthy individuals tested were carriers of any of the two mutations. In conclusion, our study independently confirms that the carrier rate for the MEFV mutations M694V and V726A is extremely low in the general Greek population.
家族性地中海热（FMF）是一种常染色体隐性遗传病，主要影响地中海盆地周边人群。FMF患者会反复发热，并伴有腹痛、胸膜炎和关节炎。已证实FMF基因（MEFV）中的错义突变是导致该病的原因，迄今为止已鉴定出70多种突变。本研究的目的是确定希腊普通人群中两种最常见的MEFV突变M694V和V726A的携带率。使用扩增不应突变系统对一组220名健康且无亲缘关系的希腊裔个体进行了这两种MEFV突变的筛查。我们的结果表明，所检测的健康个体中没有一个是这两种突变的携带者。总之，我们的研究独立证实，在希腊普通人群中，MEFV突变M694V和V726A的携带率极低。
