转甲状腺素
淀粉样变性
医学
玻璃体切除术
外显子
病理
精氨酸
污渍
纤维
点突变
突变
染色
基因
眼科
氨基酸
生物化学
视力
生物
作者
Lingyan Chen,Lin Lü,Yonghao Li,Hui Zhong,Fang Wang,Li Zhang,Weng-Lin Li
出处
期刊:PubMed
日期:2011-01-01
被引量:8
标识
DOI:10.3980/j.issn.2222-3959.2011.03.26
摘要
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).
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