Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.
Skin fibroblasts from a patient with Fabry's disease showed deficient activity of alpha-galactosidase. Fibroblasts from his mother and sister had two distinct clonal populations, one with enzymatic activity and the other enzyme deficient. This provides evidence of genetic inactivation at the alpha-galactosidase locus and makes possible the detection of carriers of Fabry's disease even when the enzymatic activity in their leukocytes and uncloned fibroblasts is within the range of controls.
D000293:Adolescent; D000653:Amniotic Fluid / Q000166:cytology; D002999:Clone Cells; D003124:Colorimetry; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D005696:Galactosidases / Q000378:metabolism*; D006017:Glycolipids / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D066298:In Vitro Techniques; D007962:Leukocytes / Q000201:enzymology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology*; D008297:Male; D008967:Molecular Biology; D011247:Pregnancy; D012730:Sex Chromosomes; D012867:Skin / Q000166:cytology
D006017:Glycolipids; D005696:Galactosidases