Research Article| Volume 12, ISSUE 3, P463-480, September 1992

Tay-Sachs Disease as a Model for Screening Inborn Errors

  • Miriam G. Blitzer
    Address reprint requests to: Miriam G. Blitzer, PhD, Division of Human Genetics, University of Maryland School of Medicine, 655 W. Baltimore St, Room 11-037, Baltimore, MD 21201
    From the Division of Human Genetics, Department of Pediatrics, and Biochemical Genetics Laboratory, University of Maryland School of Medicine, Baltimore
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  • Geraldine A. McDowell
    National Institute of Child Health and Human Development, Human Genetics Branch, Section on Biochemistry, National Institutes of Health, Bethesda, Maryland
    Search for articles by this author
      This paper is only available as a PDF. To read, Please Download here.
      Without available treatments for most inborn errors of metabolism, prevention of disease by identification of couples at risk has been a goal of both geneticists and health care providers. This article, using Tay-Sachs disease as an example, focuses on how our understanding of genetic, biochemical, and molecular aspects of a metabolic disease can be applied to the development of a successful carrier screening program. Details of the biochemical assays used in the detection of Tay-Sachs disease carriers in addition to new molecular techniques that are being applied clinically are reviewed.
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