葡糖脑苷脂酶是一种与膜结合的溶酶体的酶,催化下述反应: 葡糖脑苷脂→葡萄糖+神经酰胺人类由于这种酶的遗传缺陷引起高雪氏病,此病的特点是葡糖脑苷脂在网状内皮系统内蓄积。利用电泳技术对葡糖脑苷脂酶的研究,可以进一步了解高雪氏病的生化遗传学及常见的成年型(Ⅰ型)与罕见的神经原病变型(Ⅱ型及Ⅲ型)之间的关系。但葡糖脑苷脂酶溶解度低且易于聚集,这就妨碍了酶的电泳分析。本文报导了研究正常人与高雪氏病人成纤维细胞葡糖脑苷脂酶的聚丙烯酰胺凝胶电泳系统。研究结果表明胎盘的和正常的成纤维细胞葡糖脑苷脂酶的迁移率稍有不同,而 Glucocerebrosidase is a membrane bound lysosomal enzyme that catalyzes the following reactions: Glucocerebroside → Glucose + Ceramide Human disease Caused by Gaucher’s disease due to the genetic defects of this enzyme It is characterized by accumulation of glucocerebroside in the reticuloendothelial system. Using electrophoresis technique to study glucocerebrosidase, we can further understand the biochemical genesis of Gaucher’s disease and the relationship between common adult type (type I) and rare type of neuropathy (type II and type III) relationship. However, glucocerebrosidase has low solubility and is easy to aggregate, which hinders the electrophoretic analysis of the enzyme. This article reports the polyacrylamide gel electrophoresis system for the study of glucocerebrosidase in normal and Gaucher’s fibroblasts. The results suggest that placental and normal fibroblast glucocerebrosidase mobility is slightly different, whereas