GM1神经节苷脂贮积症中酶缺陷交叉反应物质的定量分析。
Quantitation of the enzymically deficient cross reacting material in GM1 gangliosidoses.
作者信息
Ben-Yoseph Y, Burton B K, Nadler H L
出版信息
Am J Hum Genet. 1977 Nov;29(6):575-80.
Abstract
Normal quantities of GM1 beta-galactosidase cross reacting material (CRM) (0.31-0.47 microgram/mg protein) were detected by a sensitive radial immunodiffusion assay in skin fibroblasts from patients with GM1 gangliosidosis type 1 and adult variants, whereas elevated levels were found in GM1 gangliosidosis type 2 (0.41-0.72 microgram/mg protein). The specific activity of the immunologically CRM towards GM1 ganglioside of normal fibroblasts was about 500 times that of type 1, 100 times that of type 2, and 30 times that of the adult variants.
摘要
通过灵敏的放射免疫扩散测定法，在1型GM1神经节苷脂沉积症患者和成人变异型患者的皮肤成纤维细胞中检测到正常量的GM1β-半乳糖苷酶交叉反应物质（CRM）（0.31 - 0.47微克/毫克蛋白质），而在2型GM1神经节苷脂沉积症患者中发现其水平升高（0.41 - 0.72微克/毫克蛋白质）。正常成纤维细胞的免疫CRM对GM1神经节苷脂的比活性约为1型的500倍、2型的100倍和成人变异型的30倍。
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