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Is E148Q a benign polymorphism or a disease-causing mutation?

机译:E148Q是良性多态性还是致病突变?

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To the Editor:Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, pleuritis, and a typical inflammatory rash termed erysipelas-like erythema. The development of renal amyloidosis type AA is the most devastating manifestation of the disease, and prior to colchicine treatment was a major cause of morbidity and mortality. The disease is very prevalent among North African and Iraqi Jews, Middle Eastern Arabs, Turks, and Armenians, but rare in other populations. FMF is caused by mutations in the MEFV gene, which is composed of 10 exons and encodes a protein of 781 ammo acids.
机译:致家族性地中海热(FMF)是一种遗传性疾病,其特征是发烧反复发作,伴有无菌性腹膜炎,关节炎,胸膜炎和典型的炎症性皮疹,称为丹毒样红斑。肾淀粉样变性病AA的发展是该病最具有破坏性的表现,在秋水仙碱治疗之前是发病率和死亡率的主要原因。该病在北非和伊拉克犹太人,中东阿拉伯人,土耳其人和亚美尼亚人中非常普遍,但在其他人群中很少见。 FMF是由MEFV基因突变引起的,该基因由10个外显子组成,编码781种氨基酸的蛋白质。

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