Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease
- 9 October 1970
- journal article
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 170 (3954), 180-181
- https://doi.org/10.1126/science.170.3954.180
Abstract
Skin fibroblasts from a patient with Fabry's disease showed deficient activity of α-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 α-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.Keywords
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