X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of (3)H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate (3)H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.
D001345:Autoradiography; D002999:Clone Cells / Q000201:enzymology*; D046508:Culture Techniques; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005964:Glucosyltransferases; D006147:Guanine / Q000378:metabolism*; D006150:Guanine Nucleotides / Q000096:biosynthesis; D006579:Heterozygote; D006801:Humans; D007042:Hypoxanthines / Q000378:metabolism; D008858:Microscopy, Phase-Contrast; D008967:Molecular Biology; D009154:Mutation; D011686:Purine-Pyrimidine Metabolism, Inborn Errors; D012730:Sex Chromosomes; D012867:Skin / Q000166:cytology; D014316:Tritium
D006150:Guanine Nucleotides; D007042:Hypoxanthines; D014316:Tritium; D006147:Guanine; D005964:Glucosyltransferases