Article
Screening for defined cystic fibrosis mutations by solid-phase minisequencing.
Clinical chemistry - 1 Jan 1992
Jalanko A, Kere J, Savilahti E, Schwartz M, Syvänen A C, Ranki M, Söderlund H
Abstract excerpt
We have developed a rapid method for the quantitative detection of point mutations and deletions. In this minisequencing method, enzymatically amplified DNA, 5'-biotinylated in one strand, is bound to a solid phase and denatured. A detection primer, constructed to end immediately before the mutation, is annealed to the immobilized single-stranded template and elongated with a single, labeled deoxynucleoside...
Topics
- Base Sequence
- Chromosome Deletion
- Cystic Fibrosis
- Cytidine Triphosphate
- DNA
- Genotype
- Heterozygote
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction