Pre- and Postnatal Detection of Tay-Sachs Disease. A Comparative Study of Biochemical Screening Methods

  • Abraham Saifer
  • Guta Perle
  • Carlo Valenti
  • Larry Schneck
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)

Abstract

Tay-Sachs disease, an invariably fatal cerebral storage (GM2-ganglioside) disorder inherited as an autosomal recessive trait, is presently the only such genetic disease which possesses all three criteria necessary to prevent the birth of homozygotes. These criteria are:- (a) The characterization of a well-defined, high risk group in the general population which carries the defective gene, e.g., Ashkenazi Jews in the United States (1). (b) A simple, quantitative biochemical test, preferably based upon the analysis of the deficient enzyme, which will permit the detection of the heterozygotes in the normal population and the isolation of the high-risk carrier-couples, e.g., the assay of hexosaminidase A in serum (2) or white blood cells (3,4) with fluorimetric procedures. (c) The prenatal diagnosis of the disease by enzymatic analysis of the amniotic fluid or cells obtained from the fetuses of carrier-couples sufficiently early to give the parents the choice of safely terminating the pregnancy(5).

Keywords

Amniotic Fluid Heat Denaturation Metachromatic Leukodystrophy Biochemical Screening Carrier Group 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Aronson, S.M., Epidemiology. In Tay-Sachs Disease, Volk, B.W., Ed. New York, Grune and Stratton, 1964, pp 118 - 153.Google Scholar
  2. 2.
    Brien, J.S., Okada, S., Chen, A., and Fillerup, D.L., Tay-Sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay. New Eng. J. Med. 283, 15 (1970).CrossRefGoogle Scholar
  3. 3.
    Padeh,B., and Navon,R., Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells. Israel J. Med. Sci. 7, 259 (1971).Google Scholar
  4. 4.
    Friedland,J., Schneck,L., Saifer,A., Pourfar,M., and Volk,B.W., Identification of Tay-Sachs disease carriers by acrylamide gel electrophoresis. Clin. Chim. Acta 28, 397 (1970).CrossRefGoogle Scholar
  5. 5.
    Schneck, L., Valenti,C., Amsterdam, D., Friedland, J., Adachi,M., and Volk,B.W., Prenatal diagnosis of Tay-Sachs disease. Lancet 1, 582 (1970).Google Scholar
  6. 6.
    Robinson, D., and Stirling,J.L., N-Acetyl-ßglucosaminidases in human spleen. Biochem. J. 107, 321 (1968).PubMedGoogle Scholar
  7. 7.
    Sandhoff,K., Auftrennung der Sâuger-N-Acetyl-betaD-hexosaminidase in multiple Formen durch Elektrofokusserung. Z. Physiol. Chem. 349, 1095 (1968).CrossRefGoogle Scholar
  8. 8.
    Okada, S., and Brien, J.S., Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component. Science 165, 698 (1969).PubMedCrossRefGoogle Scholar
  9. 9.
    Sandhoff,K., Variation of (3-N-acetylhexosaminidase -pattern in Tay-Sachs disease. FEBS Letters 4, 351 (1969).PubMedCrossRefGoogle Scholar
  10. 10.
    Kolodny, E.H., Brady,R.O., and Volk,B.W., Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease. Biochem. Biophys. Res. Commun. 37, 526 (1969).PubMedCrossRefGoogle Scholar
  11. 11.
    Sandhoff,K., The hydrolysis of Tay-Sachs ganglioside (TSG) by human N-acetyl-(3-D-hexosaminidase A. FEBS Letters 11, 342 (1970).PubMedCrossRefGoogle Scholar
  12. 12.
    Friedland, J., Perle,G., Saifer,A., Schneck, L., and VO1k,B.W., Screening for Tay-Sachs disease in utero using amniotic fluid. Proc. Soc. Exp. Biol. and Med. 136, 1297 (1971).Google Scholar
  13. 13.
    Leaback,D.H., and Walker,P.G., Studies on glucosaminidase. The fluorimetric assay of N-acetyl-(3glucosaminidase. Biochem. J. 78, 151 (1961).PubMedGoogle Scholar
  14. 14.
    Stirling,J.L., A new form of N-acetyl-(3-glucosaminidase present in pregnancy serum. Biochem. J. 120, llp (1971).Google Scholar

Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Abraham Saifer
    • 1
  • Guta Perle
    • 1
  • Carlo Valenti
    • 2
  • Larry Schneck
    • 3
  1. 1.Department of BiochemistryIsaac Albert Research Institute of the Kingsbrook Jewish Medical CenterBrooklynUSA
  2. 2.Department of Obstetrics and GynecologyState University of New YorkBrooklynUSA
  3. 3.Downstate Medical Center and Department of NeurologyKingsbrook Jewish Medical CenterBrooklynUSA

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