Communicated by Robert J. Desnick The Ashkenazi Jewish population is enriched for carriers of a fatal form of Tay-Sachs disease, a recessive inherited disorder caused by mutations in the a-chain of the lysosomal enzyme P-hexosaminidase A. Approximately 20% of the Ashkenazi carriers harbor a splice
Identification of an altered splice site in Ashkenazi Tay-Sachs disease
β Scribed by Arpaia, E.; Dumbrille-Ross, A.; Maler, T.; Neote, K.; Tropak, M.; Troxel, C.; Stirling, J. L.; Pitts, J. S.; Bapat, B.; Lamhonwah, A. M.
- Book ID
- 109754113
- Publisher
- Nature Publishing Group
- Year
- 1988
- Tongue
- English
- Weight
- 250 KB
- Volume
- 333
- Category
- Article
- ISSN
- 0028-0836
- DOI
- 10.1038/333085a0
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Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations. We report a novel TSD allele in the French-Canadian population associated with the infantile form of the disease. The mutation, a G-->A t
A screening program for the detection of Tay-Sachs disease (TSD) carriers in the ultra Orthodox community of Ashkenazi J e w s has operated in Israel since 1986. The purpose of this program is the prevention of marriages of 2 heterozygotes. The screened individuals are mostly couples in the engageme