Polymorphism of human galactose-1-phosphate uridyl transferase

Hum Hered. 1982;32(1):42-5. doi: 10.1159/000153256.

Abstract

Frequencies for the electrophoretically detectable alleles of galactose-1-phosphate uridyl transferase were determined from 406 neonates in Adelaide. GALT*D and GALT*LA frequencies were 0.054 and 0.027, respectively. The expected proportion of heterozygotes was 15.3%, with a GALT N-D component of 10%. The distinction between GALT*D and GALT*LA is essential for estimation of the expected frequency of GALT DG genotypes, an unknown proportion of which are detected as 'deficient' from neonates on galactosaemia screen.

MeSH terms

  • Alleles
  • Electrophoresis, Starch Gel
  • Galactosemias / diagnosis
  • Gene Frequency
  • Humans
  • Infant, Newborn
  • Nucleotidyltransferases / genetics*
  • Phenotype
  • Polymorphism, Genetic*
  • UTP-Hexose-1-Phosphate Uridylyltransferase / genetics*

Substances

  • Nucleotidyltransferases
  • UTP-Hexose-1-Phosphate Uridylyltransferase