title: A new genetic variant of galactose-1-phosphate uridyl transferase.
abstract: The enzyme galactose-1-phosphate uridyl transferase (E.C.2.7.7.12), which has an important function in the metabolism of galactose, exists in multiple molecular forms. The different phenotypes are genetically determined. They can be distinguished according to their electrophoretic mobility. The enzymatic activity of the different gene products varies within certain limits. A new phenotype of the enzyme has been detected in the red cells of a healthy individual. The electrophoretic migration of this phenotype is slower compared to the wild type and its enzymatic activity is lower, but still sufficient as not to cause galactosemia. An extensive family study revealed that the rare gene is inherited according to mendelian law. Independently the same gene product has been detected in two other, nonrelated individuals out of a total of 1668 samples tested. The gene frequency can therefore be estimated to 0.0009 in the Swiss population. We suggest that the new type be called Berne variant of galactose-1-phosphate uridyl transferase.
mesh_terms: D000328:Adult; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008967:Molecular Biology; D009713:Nucleotidyltransferases / Q000097:blood*; D010375:Pedigree; D010641:Phenotype; D013557:Switzerland; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*
chemical_list: D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase