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  • Title: Detection of Fabry's disease heterozygotes by enzyme analysis in single fibroblasts after cell sorting.
    Author: Jongkind JF, Verkerk A, Niermeijer MF.
    Journal: Clin Genet; 1983 Apr; 23(4):261-6. PubMed ID: 6303650.
    Abstract:
    Single cells were sorted from cultured fibroblasts of five carriers of Fabry's disease using a cell sorter (FACS II). The alpha-galactosidase A activity in the single fibroblasts was assayed in nanoliter 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.
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