Tay-Sachs Disease — The Use of Tears for the Detection of Heterozygotes
- 15 November 1973
- journal article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 289 (20) , 1072-1074
- https://doi.org/10.1056/nejm197311152892006
Abstract
TAY-SACHS disease, a fatal neurodegenerative disorder characterized by massive accumulation of GM2 ganglioside primarily in brain tissue,1 is inherited as an autosomal recessive trait and is associated with deficient activity in all tissues of hexosaminidase A, one of the two forms of hexosaminidase.2 Screening for the detection of persons heterozygous for the causative gene was made possible by the observation that these persons have, on the average, 50 per cent of normal hexosaminidase A activity. With use of the heat lability of hexosaminidase A as compared to the relative heat stability of the second form, hexosaminidase B, a serum . . .Keywords
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