title: Gene dosage effect for beta-glucuronidase (GUSB) in monosomy 7 cells of patients with myeloproliferative disorders.
abstract: The demonstration of a gene dosage effect in a neoplastic cell with a specific chromosome abnormality could be helpful in the study of some pathogenetic steps of the malignant growth. We tested the activities of beta-glucuronidase (GUSB), whose gene is mapped on chromosome 7 and of Arylsulphatase A (ARSA) and beta-galactosidase (GLB) as control lysosomal enzymes, whose loci are not assigned to number 7, in a group of 10 patients with myeloproliferative disorders associated with monosomy 7. A significant difference of the levels of activity of GUSB in monosomy 7 cells was found in comparison with two groups of controls, one of healthy subjects, the other of patients with similar disorders without monosomy 7. These results indicate the presence of a gene dosage effect for GUSB.
mesh_terms: D000756:Anemia, Sideroblastic / Q000235:genetics*; D002553:Cerebroside-Sulfatase / Q000235:genetics; D002869:Chromosome Aberrations; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005966:Glucuronidase / Q000235:genetics*; D006801:Humans; D004915:Leukemia, Erythroblastic, Acute / Q000235:genetics*; D007951:Leukemia, Myeloid / Q000235:genetics*; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010641:Phenotype; D001616:beta-Galactosidase / Q000235:genetics
chemical_list: D002553:Cerebroside-Sulfatase; D001616:beta-Galactosidase; D005966:Glucuronidase