Peters S P, Lee R E, Glew R H
Clin Chim Acta. 1975 May 1;60(3):391-6. doi: 10.1016/0009-8981(75)90083-2.
We report a new assay for the detection of individuals heterozygous and homozygous for Gaucher's disease which requires relatively small samples of whole blood (0.3 ml), and which determines 4-methylumbelliferyl-beta-D-glucopyranoside:beta-glucosidase activity under conditions optimal for the determination of leukocyte glucocerebroside:beta-glucocereborsidase activity. The procedure involves the preparation of a leukocyte pellet from 50 mul of whole blood by hypotonic lysis of erythrocytes, followed by assay of beta-glucosidase activity at pH 5.5 in the presence of sodium taurocholate (0.6 g/100 ml). The methods described may also prove to be useful for the diagnosis of other diseases of enzyme deficiency which use fluorogenic substrates and leukocytes as a source of enzyme, such as Fabry's disease, Tay-Sachs disease, and generalized gangliosidosis.
我们报告了一种用于检测戈谢病杂合子和纯合子个体的新检测方法，该方法所需的全血样本量相对较小（0.3毫升），并且在最适合测定白细胞葡糖脑苷脂：β-葡萄糖脑苷脂酶活性的条件下测定4-甲基伞形酮基-β-D-吡喃葡萄糖苷：β-葡萄糖苷酶活性。该程序包括通过红细胞的低渗裂解从50微升全血中制备白细胞沉淀，然后在牛磺胆酸钠（0.6克/100毫升）存在下于pH 5.5测定β-葡萄糖苷酶活性。所述方法可能也被证明对诊断其他使用荧光底物和白细胞作为酶来源的酶缺乏症有用，例如法布里病、泰-萨克斯病和全身性神经节苷脂沉积症。
