【摘要】 本文报道从2ml肝素抗凝血分离的白细胞中,以4-甲基-伞形酮-β-D-葡萄糖苷(4-methylumbelliferyl-β-D-glucoside)为基质,测定白细胞β-葡萄糖脑苷脂酶活性。42例的正常值范围为7.55～10.19nmol/mg protein/h,1例经临床确诊为高雪氏病的该酶活性低下为0.78nmol/mg protein/h,其父、母的该酶活性介于正常人与患者之间分别为3.46和4.98nmol/mg protein/h。更多还原

【Abstract】 The leukocyte seperated from 2ml heparinized blood was used for the assay of β-glucosidase activity fluorometrically by using-MU-β-glucoside. The mean value of 42 normal controls is 7.55-10.19 nmol/mg Pro/h. A patient diagnosed clinically with Gaucher’s disease was proved by the deficiency of this defective enzyme by this procedure, the later was only 0.78 nmol/mg Pro/h. His father and mother’s enzyme activity was 3.46 and 4.98 nmol/mg Pro/h respectively, both indicating heterozygote, as the values of the enzyme activity were intermediate.更多还原