title: Determination of Gaucher's disease phenotypes with monoclonal antibody.
abstract: Discrimination between the three clinical subtypes of Gaucher's disease based on the molecular forms of beta-glucocerebrosidase detected by monoclonal antibody is described. In normal fibroblast extracts, cross-reacting material (CRM) to human placental glucocerebrosidase is detected at Mr approximately equal to 63 000, 61 000 and 56 000. In Type 1 Gaucher's disease, the major fibroblast CRM has a Mr approximately equal to 56 000,, with less CRM seen at 61 000 and 56 000. Type 3 fibroblast extracts have a single CRM form at Mr approximately equal to 63 000. No CRM is found in Type 2 Gaucher's disease fibroblasts with monoclonal antiglucocerebrosidase antibody 8E4.
mesh_terms: D000911:Antibodies, Monoclonal; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics; D005959:Glucosidases / Q000302:isolation & purification*; D005962:Glucosylceramidase / Q000276:immunology / Q000302:isolation & purification*; D006801:Humans; D007120:Immunochemistry; D010641:Phenotype
chemical_list: D000911:Antibodies, Monoclonal; D005959:Glucosidases; D005962:Glucosylceramidase