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Science 27 June 1986:
Vol. 232. no. 4758, pp. 1646 - 1648
DOI: 10.1126/science.3754980
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Articles

Science, Vol 232, Issue 4758, 1646-1648
Copyright © 1986 by American Association for the Advancement of Science

articles

Different mutations in Ashkenazi Jewish and non-Jewish French Canadians with Tay-Sachs disease

R Myerowitz and ND Hogikyan

Tay-Sachs disease patients of Ashkenazi Jewish and non-Jewish French Canadian origin are affected with a clinically identical form of this inherited disease. Both have a similar gene frequency for the disorder, which is tenfold higher than that found in the general population. Unlike other patients with the disease, who often display variation at the clinical or biochemical level, the absence of such differences between these two groups has prompted the idea that they may harbor the same mutation. In this report, a complementary DNA clone coding for the alpha chain of human beta-hexosaminidase has been used to analyze the genetic lesions in the alpha-chain locus of two patients with Tay-Sachs disease from each of these groups. On the basis of DNA hybridization analyses, the alpha-chain gene of the Ashkenazi patients appears intact while the alpha-chain gene of French Canadian patients has a 5' deletion of approximately 5 to 8 kilobases.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Evidence for a Gene Influencing High-Density Lipoprotein Cholesterol on Chromosome 4q31.21.
Z. Dastani, L. Quiogue, C. Plaisier, J. C. Engert, M. Marcil, J. Genest, and P. Pajukanta (2006)
Arterioscler. Thromb. Vasc. Biol. 26, 392-397
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Sequencing, expression, and enzymatic characterization of {beta}-hexosaminidase in rabbit lacrimal gland and primary cultured acinar cells.
S. V. Andersson, E. C. Sjogren, C. Magnusson, and J. P. Gierow (2005)
Glycobiology 15, 211-220
   Abstract »    Full Text »    PDF »
Molecular genetics: applications to the clinical neurosciences.
J. Martin (1987)
Science 238, 765-772
   Abstract »    PDF »


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