Article
Effect of an adjacent base on detection of a point mutation by restriction enzyme digestion.
Somatic cell and molecular genetics - 1 Jul 1991
Klein D, Dodson A E, Tabor D E, Cederbaum S D, Grody W W
Abstract excerpt
While routinely mapping point mutations within the arginase locus of a collection of hyperargininemic patients, we discovered that a base immediately outside a restriction endonuclease recognition site (TaqI) can eliminate cleavage of this site by this enzyme. The genetic lesion lay in a base immediately flanking a TaqI recognition site within exon 8 of the arginase locus and abolished cutting by approximately...
Topics
- Base Sequence
- Blotting, Southern
- Densitometry
- Deoxyribonucleases, Type II Site-Specific
- Humans
- Hydrolysis
- Metabolism, Inborn Errors
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Restriction Mapping