title: Genetic heterogeneity in type I Gaucher disease.
abstract: Electrophoresis of the beta-glucosidase isozymes from various normal human sources revealed that cultured fibroblasts expressed only the acid beta-glucosidase isozyme. Therefore, selected physical and kinetic properties of the residual acid beta-glucosidase activities in fibroblasts from Gaucher Type 1 homozygotes of various ethnic backgrounds were compared. The findings of different specific activities, thermostabilities, apparent Km values, and electrophoretic migrations of the residual activities from the ethnic variants provided the first biochemical evidence of genetic heterogeneity in Type 1 Gaucher disease.
mesh_terms: D002478:Cells, Cultured; D004586:Electrophoresis; D005006:Ethnicity; D005347:Fibroblasts / Q000201:enzymology; D005776:Gaucher Disease / Q000201:enzymology / Q000235:genetics*; D005959:Glucosidases / Q000235:genetics*; D006720:Homozygote; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D012867:Skin / Q000201:enzymology; D001617:beta-Glucosidase / Q000235:genetics* / Q000378:metabolism
chemical_list: D005959:Glucosidases; D001617:beta-Glucosidase