Grabowski G A, Dinur T, Gatt S, Desnick R J
Clin Chim Acta. 1982 Sep 1;124(1):123-35. doi: 10.1016/0009-8981(82)90326-6.
A new acid beta-glucosidase assay for the detection of heterozygotes for Gaucher Type I disease has been developed using isolated lymphocytes as enzyme source and a novel fluorescent natural substrate, NBD-glucosyl ceramide. The procedure for optimal heterozygote discrimination was established by systematic evaluation of the effect of various solubilization techniques, detergent concentrations, pH, enzyme sources and artificial vs. natural substrates. A pilot screening study indicated the feasible application of this assay for heterozygote detection in the high-risk Ashkenazi Jewish population.
已开发出一种新的酸性β-葡萄糖苷酶检测方法，用于检测I型戈谢病杂合子，该方法使用分离的淋巴细胞作为酶源，并使用一种新型荧光天然底物NBD-葡萄糖基神经酰胺。通过系统评估各种增溶技术、去污剂浓度、pH值、酶源以及人工底物与天然底物的影响，确定了最佳杂合子鉴别程序。一项初步筛查研究表明，该检测方法可用于高危阿什肯纳兹犹太人群体的杂合子检测。
