[Pathobiochemistry of galactosemia and usefulness of the Gt system in expert opinions (author's transl)].
We investigated the genetic polymorphism of galactose-1-phosphate-uridyl-transferase (Gt) of 525 blood samples from Southern Germany. The gene frequencies of Gt1 are 0.9581 and of Gt2 0.0623. Comparing the gene frequencies of galactosemia (0.006), GtD (0.06), Gt1 (0.9581) and Gt2 (0.0623), we see that the gene frequencies of GtD and Gt2 are nearly identical. In expert opinions that Gt is a system of insufficient information.
D004587:Electrophoresis, Agar Gel; D005104:Expert Testimony; D005554:Forensic Medicine; D005693:Galactosemias / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D005838:Genotype; D005860:Germany, West; D006801:Humans; D007231:Infant, Newborn; D009713:Nucleotidyltransferases / Q000097:blood*; D010334:Paternity; D010641:Phenotype; D011379:Prognosis; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000097:blood*
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase
Pathobiochemie der Galaktoseintoleranz und Verwendbarkeit des Enzyms Galaktose-1-Phosphat-Uridyltransferase (Gt) in der Paternitätsbegutachtung