Expression of GALT in two unrelated 9p- patients. Evidence for assignment of the GALT locus to the 9p21 band.
The quantitative expression of GALT and galactose utilization have been investigated in two patients with 9p deletion. Case 1 had a distal deletion of the band 9p22 leads to pter, while case 2 had an interstitial deletion of the region 9p133 leads to p23. In the former patient GALT activity and galactose utilization were found to be normal: in the latter decreased GALT activity and a significant decrease of galactose utilization were present. The above findings suggest that the GALT locus is in the 9p21 band.
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X / Q000648:ultrastructure*; D004912:Erythrocytes / Q000201:enzymology; D005260:Female; D005690:Galactose; D005796:Genes; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D009713:Nucleotidyltransferases / Q000235:genetics*; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics* / Q000378:metabolism
D009713:Nucleotidyltransferases; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase; D005690:Galactose