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  • Title: Carrier detection in Sandhoff disease.
    Author: Lowden JA, Ives EJ, Keene DL, Burton AL, Skomorowski MA, Howard F.
    Journal: Am J Hum Genet; 1978 Jan; 30(1):38-45. PubMed ID: 414620.
    Abstract:
    Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the kindred and found two distinct cohorts. Sixteen individuals had low total and low heat-stable hexosaminidase and were diagnosed as carriers of Sandhoff disease. The values for the remainder were within normal limits. In a retrospective study of data from more than 14,000 Ashkenazi Jews, who were screened for Tay-Sachs disease, six were identified as Sandhoff carriers. Our data indicate that carrier detection requires measurement of both total and heat-stable enzyme activity.
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