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X-Linkage of Human α-Galactosidase

Nature New Biology volume 240, pages 48–50 (1972)Cite this article

Abstract

A deficiency in α-galactosidase (α-Gal) activity–as measured aspecifically with the use of artificial substrates–is a regular feature in leucocytes and fibroblasts of patients affected by angiokeratoma corporis diffusum or Fabry's disease, a well-known X-linked trait in man1–4. Fibroblast clones derived from mothers of affected males exhibit either normal or deficient activity of α-galactosidase. This demonstrates that the deficiency of α-galactosidase is caused by an X-linked mutation, but does not necessarily prove that the structural locus for this enzyme is itself located on the X-chromosome.

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References

  1. Kint, J. A., Science, 167, 1268 (1970).

    Article  CAS  Google Scholar 

  2. Romeo, G., and Migeon, B. R., Science, 170, 180 (1970).

    Article  CAS  Google Scholar 

  3. Brady, R. O., Uhlendorf, B. W., and Jacobson, C. B., Science, 172, 174 (1971).

    Article  CAS  Google Scholar 

  4. Sweeley, C. C., and Klionsky, B., The Metabolic Basis of Inherited Disease (edit. by Stanbury, Wijngaarden and Frederickson), 618 (McGraw-Hill, New York, 1966).

    Google Scholar 

  5. Beutler, E., and Kuhl, W., Amer. J. Hum. Genet. (in the press).

  6. Lyon, M. F., Ann. Rev. Genet., 2, 31 (1968).

    Article  Google Scholar 

  7. Ohno, S., Evolution of Sex Chromosomes in Mammals (Springer, Berlin, 1970).

    Google Scholar 

  8. Meera Khan, P., Westerveld, A., Grzeschik, K. H., Deys, B. F., Garson, O. M., and Siniscalco, M., Amer. J. Hum. Genet., 23, 614 (1971).

    CAS  PubMed  Google Scholar 

  9. Siniscalco, M., in Schering Workshop on Mechanisms of Genetic Transfer, Berlin (in the press).

  10. Westerveld, A., Visser, R. P. L. S., Meera Khan, P., and Bootsma, D., Nature New Biology, 234, 20 (1971).

    Article  CAS  Google Scholar 

  11. Littlefield, J. W., Science, 145, 709 (1964).

    Article  CAS  Google Scholar 

  12. Meera Khan, P., Arch. Biochem. Biophys., 145, 470 (1971).

    Article  CAS  Google Scholar 

  13. Grzeschik, K. H., Alderdice, P. W., Grzeschik, A., Opitz, J. M., Miller, O. J., and Siniscalco, M., Proc. US Nat. Acad. Sci., 69, 69 (1972).

    Article  CAS  Google Scholar 

  14. Miller, O. J., Cook, P. R., Meera Khan, P., Shin, S., and Siniscalco, M., Proc. US Nat. Acad. Sci., 68, 116 (1971).

    Article  CAS  Google Scholar 

  15. Johnston, A. W., Warland, B. J., and Weller, S. D. V., Ann. Hum. Genet., 30, 25 (1966).

    Article  CAS  Google Scholar 

Download references

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Authors and Affiliations

  1. Department of Genetics, Albert Einstein College of Medicine, Bronx, New York

    K. H. GRZESCHIK, A. M. GRZESCHIK & S. BANHOF

  2. Department of Human Genetics, University of Munster,

    G. ROMEO

  3. Department of Genetics, University of Naples,

    M. SINISCALCO

  4. Department of Molecular Genetics, Leiden State University, Leiden

    H. VAN SOMEREN

  5. Department of Human Genetics, Leiden State University, Leiden

    P. MEERA KHAN

  6. Medical Biological Laboratory TNO, Rijswijk, 2100

    A. WESTERVELD

  7. Department of Cell Biology and Genetics, Medical Faculty, Rotterdam

    D. BOOTSMA

Authors
  1. K. H. GRZESCHIK
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GRZESCHIK, K., GRZESCHIK, A., BANHOF, S. et al. X-Linkage of Human α-Galactosidase. Nature New Biology 240, 48–50 (1972). https://doi.org/10.1038/newbio240048a0

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  • DOI: https://doi.org/10.1038/newbio240048a0

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