Article
beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.
American journal of human genetics - 1 Aug 1993
Brown C A, Mahuran D J
Abstract excerpt
In vitro mutagenesis and transient expression in COS cells has been used to associate a missense mutation with a clinical or biochemical phenotype. Mutations affecting the alpha-subunit of beta-hexosaminidase A (alpha beta) (E.C.3.2.1.52) result in Tay-Sachs disease. Because hexosaminidase A is heterodimeric, analysis of alpha-chain mutations is not straightforward. We examine three approaches utilizing...
Topics
- Adult
- Animals
- Base Sequence
- Blotting, Western
- Cells, Cultured
- Chromatography, High Pressure Liquid
- DNA Mutational Analysis
- Genotype
- Glycine
- Haplorhini
- Hexosaminidase A
- Hot Temperature
- Humans
- Molecular Sequence Data