Assay of galactose-1-phosphate uridyl transferase in cultured amniotic cells for prenatal diagnosis of galactosaemia.
We report studies designed to establish optimal conditions for the assay of amniotic cell galactose 1-phosphate uridyl transferase (Gal-PUT) for early prenatal diagnosis of galactosaemia. Methods based on linkage of the reaction to cause of non-specific reactions occurring even in the absence of Gal-1-P. In the final method, sonicates of confluent cultures are incubated with (14-C) Gal-1-P is degraded by treatment with alkaline phosphatase. Gal-PUT specific activities of both control and galactosaemic amniotic cells are higher in non-confluent that confluent cultures.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000201:enzymology*; D002478:Cells, Cultured; D005260:Female; D005693:Galactosemias / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007700:Kinetics; D008722:Methods; D009713:Nucleotidyltransferases / Q000032:analysis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013997:Time Factors; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000032:analysis* / Q000378:metabolism
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase