Turpin J C, Berriche S, Lucotte G
Service de Neurologie, C.H.U. de Reims.
Rev Neurol (Paris). 1988;144(8-9):519-22.
Results of DNA analysis in 8 patients with type I amyloid neuropathy (ANI) are reported. A direct link exists between the mutated gene of the prealbumin and the ANI. Carriers of the gene mutating for prealbumin were identified. Autoradiographs after hybridization with a prealbumin probe allowed detection of children who will develop the disease. The molecular probe used was developed for the Japanese form of NAI and allowed affirmation of the identical nature of the neuropathy identified by Araki in Kiu-Shiu and the Portuguese form of Porto.
报告了8例I型淀粉样神经病(ANI)患者的DNA分析结果。前白蛋白突变基因与ANI之间存在直接联系。已鉴定出前白蛋白基因突变的携带者。与前白蛋白探针杂交后的放射自显影片能够检测出将患该病的儿童。所使用的分子探针是针对日本型NAI开发的,可证实荒木在九州发现的神经病与葡萄牙波尔图型神经病具有相同性质。