title: Polymorphism of human galactose-1-phosphate uridyl transferase.
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: D000483:Alleles; D004592:Electrophoresis, Starch Gel; D005693:Galactosemias / Q000175:diagnosis; D005787:Gene Frequency; D006801:Humans; D007231:Infant, Newborn; D009713:Nucleotidyltransferases / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
chemical_list: D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase