title: Fibroblasts of two patients with trisomy 18 show 1.5-fold increase in peptidase A activity over normal human diploid fibroblasts.
abstract: Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5-fold increase in Pep A activity over that of the control fibroblasts. Agar gel electrophoretic analysis revealed no detectable differences in the electrophoretic mobility and isoenzyme patterns of Pep A between the trisomy 18 fibroblasts and normal ones. The present results show the trisomy 18 fibroblasts to be suitable for study of the gene dosage effect of Pep A.
mesh_terms: D016282:Aspartic Acid Endopeptidases; D002478:Cells, Cultured; D002887:Chromosomes, Human, Pair 18; D004171:Diploidy; D004587:Electrophoresis, Agar Gel; D010450:Endopeptidases / Q000235:genetics* / Q000378:metabolism; D005347:Fibroblasts / Q000201:enzymology* / Q000648:ultrastructure; D006801:Humans; D014314:Trisomy
chemical_list: D010450:Endopeptidases; C022325:aspartic proteinase A; D016282:Aspartic Acid Endopeptidases