Transthyretin Arg-83 mutation in vitreous amyloidosis
Transthyretin Arg-83 mutation in vitreous amyloidosis
复制标题
DOI：
10.3980/j.issn.2222-3959.2011.03.26
复制
发表时间：
2011-06-18
影响因子：
1.4
通讯作者：
Li, Weng-Lin
中科院分区：
文献类型：
--
作者：
Chen, Ling-Yan;Lu, Lin;Li, Weng-Lin
报告中的两名患者多年来都有飞蚊症和进行性视力丧失。 2例家族性玻璃体淀粉样变性，发生3代，玻璃体呈典型的白色纤维状混浊。两名患者均接受了平坦部玻璃体切除术。对玻璃体标本进行组织病理学检查。刚果红染色显示标本典型的淀粉样变性显微特征，透射电镜下可见随机分布的直径5-10nm的非分支原纤维。使用从外周血细胞中分离的 DNA 扩增转甲状腺素蛋白基因的所有外显子。运甲状腺素蛋白基因的双向测序揭示了单个碱基对取代，导致第 83 位的氨基酸取代，即甘氨酸变为精氨酸（运甲状腺素蛋白 Arg-83）。
Both of the patients in the report had floaters and progressive vision loss for years. Two cases of familial vitreous amyloidosis occurred in three generations with typical white fibrilar opacities in the vitreous body. Pars plana vitrectomy was performed in the two patients. The vitreous specimens were subjected to histopathological examination. The specimens showed typical microscopic features of amyloidosis with Congo red stain and non-branching fibrils were seen randomly distributed with 5-10nm in diameter on a transmission electron microscope. All of the exons of the transthyretin gene were amplified with DNA isolated from the peripheral blood cells. Bi-directional sequencing of the transthyretin gene revealed a single base-pair substitution, which results in an amino acid substitution at position83, glycine to arginine (transthyretin Arg-83).