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首页> 外文期刊>Genetic testing and molecular biomarkers >Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population
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Screening for Familial Mediterranean Fever M694V and V726A Mutations in the Greek Population

机译：筛查地中海热M694V和V726A突变在希腊人口

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摘要

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.
机译：家族性地中海热(FMF)是一种常染色体隐性遗传疾病,主要影响地中海盆地周围的人群。FMF病人患有复发性发作发热伴有腹痛、胸膜炎、和关节炎。FMF (MEFV)负责这种疾病,而有超过70个突变被确认。研究确定承运人的两个最常见的MEFV突变,M694V和V726A,一般希腊人口。220年希腊的健康和不相关的个人下降是两个MEFV突变筛查使用放大耐火突变系统。健康的人是运营商的测试两个突变。独立证实的载体MEFV突变M694V V726A非常较低的普通希腊人的。

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