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. 1970 Oct 9;170(3954):180-1.
doi: 10.1126/science.170.3954.180.

Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease

G Romeo, B R Migeon

Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease

G Romeo et al. Science. .

Abstract

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.

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