Nucleic acid compositions for the alpha chain of beta-hexosaminidase
AssigneeThe United States of America as represented by the Department of Health and Human Services
InventorRachel Myerowitz
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Abstract
Methods are disclosed of detecting mutations in the alpha chain gene that makes pre-natal diagnosis of Tay-Sachs disease possible. Screening for carrier heterozygotes of Tay-Sachs is made feasible by this invention.
Claims8
An isolated nucleic acid molecule encoding the entire alpha chain of beta-hexosaminidase having the DNA sequence recited in FIG. 2 selected from the group consisting of nucleotide residues -168 to 1776 and -168 to 2229.
An isolated nucleic acid molecule encoding the entire alpha chain of beta-hexosaminidase having the DNA sequence of beta-hexosaminidase DNA deposited under ATCC Accession Number 67161.
A DNA probe selected from the group consisting of:
- 5'-CAGGCTCTGGTAAGGGTTT-3';
- 5'-CAGGCTCTGCTAAGGGTTT-3';
- 5'-GAACCGTATATCTATCCTA-3';
- and
- 5'-GAACCGTATATCCTATGGC-3'.
Dependencies are inferred from the claim text.