Galactose-1-phosphate-uridyltransferase (E.C. 2.7.7.11): a simple routine method for detecting individuals heterozygous for the silent allele Gt 0.
A simple routine method for detecting individuals who are heterozygous for the silent gene Gt 0 is presented. This method consists of a combination of electrophoresis and densitometry. The results confirm the theoretical expectation that these individuals would exhibit about 50% of the enzyme activity found in the corresponding normal phenotype.
D000483:Alleles; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D009713:Nucleotidyltransferases / Q000235:genetics*; D010641:Phenotype; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase