Article
Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.
Clinical chemistry - 1 Nov 1992
Strasberg P M, Clarke J T
Abstract excerpt
Tay-Sachs disease (TSD, GM2 gangliosidosis, Type I) is an autosomal recessive lysosomal storage disease caused by deficiency of beta-hexosaminidase A (Hex A) resulting from mutations in the gene (HEXA) encoding the alpha-subunit of the enzyme. Three mutations, in exons 7 and 11 and at the exon 12...
Topics
- Colorimetry
- DNA
- Deoxyuracil Nucleotides
- Digoxigenin
- Exons
- Female
- Genetic Carrier Screening
- Genetic Testing
- Hexosaminidase A
- Humans
- Immunoenzyme Techniques
- Indicators and Reagents
- Introns
- Jews
- Mutation
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Polymerase Chain Reaction