title: Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate.
abstract: 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.
mesh_terms: D004796:Clinical Enzyme Tests; D005776:Gaucher Disease / Q000175:diagnosis*; D006580:Genetic Carrier Screening; D005959:Glucosidases / Q000032:analysis*; D005962:Glucosylceramidase / Q000032:analysis*; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology; D013050:Spectrometry, Fluorescence
chemical_list: D005959:Glucosidases; D005962:Glucosylceramidase