Characterization of normal and abnormal variants of galactose-1-phosphate uridylyltransferase (EC 2.7.7.12) by isoelectric focusing

Hum Genet. 1983;63(3):274-9. doi: 10.1007/BF00284663.

Abstract

Isoelectric focusing (IEF) in polyacrylamide gels has been used to study the isozymes of human galactose-1-phosphate uridylyltransferase (GALT) in erythrocytes and fibroblasts. In addition to the usefulness of IEF in differentiating normal, Duarte variant, and galactosemic homozygotes and heterozygotes, the ability of IEF to distinguish the residual GALT activity in two different galactosemic fibroblast lines and in revertants from them is demonstrated.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cells, Cultured
  • Erythrocytes / enzymology
  • Fibroblasts / enzymology
  • Genetic Variation*
  • Humans
  • Isoelectric Focusing
  • Nucleotidyltransferases / analysis*
  • UTP-Hexose-1-Phosphate Uridylyltransferase / analysis*
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics

Substances

  • Nucleotidyltransferases
  • UTP-Hexose-1-Phosphate Uridylyltransferase