Assay of galactose-1-phosphate uridyl transferase in cultured amniotic cells for prenatal diagnosis of galactosaemia

Clin Chim Acta. 1975 Jul 23;62(2):189-94. doi: 10.1016/0009-8981(75)90227-2.

Abstract

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.

MeSH terms

  • Amniocentesis
  • Amniotic Fluid / enzymology*
  • Cells, Cultured
  • Female
  • Galactosemias / diagnosis*
  • Galactosemias / enzymology
  • Humans
  • Kinetics
  • Methods
  • Nucleotidyltransferases / analysis*
  • Pregnancy
  • Prenatal Diagnosis*
  • Time Factors
  • UTP-Hexose-1-Phosphate Uridylyltransferase / analysis*
  • UTP-Hexose-1-Phosphate Uridylyltransferase / metabolism

Substances

  • Nucleotidyltransferases
  • UTP-Hexose-1-Phosphate Uridylyltransferase