Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

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Science  09 Oct 1970:
Vol. 170, Issue 3954, pp. 180-181
DOI: 10.1126/science.170.3954.180


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.