Detection of Fabry's disease heterozy. gotes by enzyme analysis in single fibroblasts after cell sorting

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Abstract
Single cells were sorted from cultured fibroblasts of 5 carriers of Fabry''s disease using a cell sorter (FACS II). The .alpha.-galactosidase A activity in the single fibroblasts was assayed in nl droplets with the help of quantitative microfluorimetric techniques. Two populations of fibroblasts were present in the carriers, one showing an .alpha.-galactosidase-A activity comparable to that of Fabry patients, and another with normal .alpha.-galactosidase-A activity. This provides evidence of X-inactivation at the .alpha.-galactosidase-A locus. Since X-inactivation occurs at random, a high number of single cells has to be assayed to increase the clinical reliability for carrier detection. The methodology as presented enables such an approach.