Saraiva M J, Costa P P, Almeida M do R, Banzhoff A, Altland K, Ferlini A, Rubboli G, Plasmati R, Tassinari C A, Romeo G
Bioquímica, Instituto de Ciências Biomedicas, Universidade de Porto, Portugal.
Hum Genet. 1988 Dec;80(4):341-3. doi: 10.1007/BF00273648.
As part of an epidemiological study that aims to characterize chemically the mutation(s) in transthyretin (TTR) related to familial amyloidotic polyneuropathy (FAP) of different ethnic origins, studies were carried out on TTR from two FAP kindreds of Italian origin. Two different criteria were employed in the characterization of TTR from these kindreds: (1) immunoblotting of cyanogen bromide fragments for screening of TTR(Met30) and (2) isoelectric focusing. TTR(Met30) was not detected but other substitutions were demonstrated using isoelectric focusing techniques. One of the variants found is a basic TTR variant. The substitutions occurring in the variant TTRs of these two kindreds are not known and are presently under study.
作为一项旨在从化学角度表征与不同种族起源的家族性淀粉样多神经病（FAP）相关的转甲状腺素蛋白（TTR）突变的流行病学研究的一部分，对来自两个意大利裔FAP家族的TTR进行了研究。在表征这些家族的TTR时采用了两种不同的标准：（1）对溴化氰片段进行免疫印迹以筛选TTR（Met30），以及（2）等电聚焦。未检测到TTR（Met30），但使用等电聚焦技术证明了其他替代情况。发现的其中一个变体是碱性TTR变体。这两个家族的变体TTR中发生的替代情况尚不清楚，目前正在研究中。
