Saraiva M J, Costa P P, Goodman D S
Neurology. 1986 Nov;36(11):1413-7. doi: 10.1212/wnl.36.11.1413.
Two studies were conducted to explore questions concerning the expression of a mutant transthyretin (TTR) gene, found in Portuguese patients with familial amyloidotic polyneuropathy (FAP). In a kindred with typical onset of the disease, complete agreement between genotype and phenotype was seen for all carriers of the variant TTR with a methionine-for-valine substitution at position 30 (TTR[Met30]). In another study involving a FAP kindred with a late onset of clinical disease, TTR(Met30) was found in plasma in asymptomatic persons with ages above the usual age of onset of the disease. No evidence was obtained for the existence of a different mutation in TTR or for repression of the expression of the mutant TTR gene in this kindred. The factors responsible for the delay in the development of clinical manifestations in late-onset patients are not known and warrant further study.
开展了两项研究，以探讨有关在患有家族性淀粉样多神经病（FAP）的葡萄牙患者中发现的突变型转甲状腺素蛋白（TTR）基因表达的问题。在一个具有典型疾病发作的家族中，对于所有在第30位发生缬氨酸被甲硫氨酸替代的变异型TTR（TTR[Met30]）携带者，观察到基因型与表型完全一致。在另一项涉及临床疾病发病较晚的FAP家族的研究中，在年龄超过该疾病通常发病年龄的无症状个体的血浆中发现了TTR(Met30)。未获得该家族中存在TTR不同突变或突变型TTR基因表达受抑制的证据。晚发性患者临床表现发展延迟的原因尚不清楚，值得进一步研究。
