论文部分内容阅读
家族性淀粉样多发性神经病变(FAP)是外显率高的常染色体显性遗传病。日本人FAD的病因为:甲硫氨酸取代第30号位缬氨酸,产生的变异前清蛋白形成淀粉样纤维并全身性沉积。在变异前清蛋白22～30位抗原特异性基础上,作者发明了一种放射免疫试验。
Familial amyloid polyneuropathy (FAP) is a highly penetrative autosomal dominant disease. The cause of FAD in Japanese is that methionine replaces Valine at position 30 and the resulting pre-amylase protein forms amyloid fibrils and deposits systemically. On the basis of the antigen specificity of albumin at positions 22 to 30 before mutation, the authors invented a radioimmunoassay.