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家族性淀粉样变性多发性神经病(FAP)是一种以淀粉样纤维(AF)沉积为特征的常染色体显性遗传性疾病,AF是由血浆蛋白转甲状腺素蛋白(Transthyretin, TTR)所组成,FAP与TTR内单一的氨基酸取代的存在有关.成熟的TTR由4个单体(monomers)构成,每个单体含127个氨基酸,TTR主要在肝脏和脉络丛合成,其功能是运载饱和视黄醇(retinol)结合蛋白和甲状腺素,作者研究了一个新的引起FAP的TTR突变.先证者是希腊人后裔,女性,37岁时发现玻璃体混浊,一年后出现周围神经病,腹部脂肪抽吸示淀粉沉积,免疫组化染色示玻璃体液纤维与TTR抗血清呈阳性反应.先证者之父、姑及一名堂兄具有类似的发病年龄及活检证实的淀粉样变.于是,作者对先证者及其兄弟、母亲的DNA进行了
Familial Amyloidosis Polyneuropathy (FAP) is an autosomal dominant inherited disease characterized by deposition of amyloid fibrils (AF), which is composed of Transthyretin (TTR) FAP correlates with the presence of a single amino acid substitution within the TTR The mature TTR consists of four monomers, each containing 127 amino acids, and the TTR is predominantly synthesized in the liver and choroid plexus and functions to carry saturated retinol Retinol binding protein and thyroxine, the authors studied a new TAP mutation that causes FAP, a Greek-descendant woman with a vitreous opacity at age 37 and peripheral neuropathy one year later, abdominal fat aspiration Showed starch deposition, immunohistochemical staining showed that the liquid glass fiber and TTR antiserum positive.First of all, the father of a proband, a cousin with a similar age of onset and biopsy confirmed amyloidosis.Thus, the author of the first card And his brother, mother’s DNA was carried out