Article
Competitive assay to improve the specificity of detection of single-point mutations in alpha 1-antitrypsin deficiency.
Clinical chemistry - 1 Oct 1993
Gunneberg A, Scobie G, Hayes K, Kalsheker N
Abstract excerpt
Allele-specific oligonucleotides are used widely for the detection of single point mutations in genes. A modification of this assay based on competition has been developed for detection of the Z mutation of alpha 1-antitrypsin (alpha 1-AT). The normal alpha 1-AT allele is referred to as M, and th...
Topics
- Base Sequence
- Binding, Competitive
- DNA
- Genotype
- Humans
- Molecular Sequence Data
- Nucleic Acid Hybridization
- Oligonucleotide Probes
- Point Mutation
- Polymerase Chain Reaction
- alpha 1-Antitrypsin
- alpha 1-Antitrypsin Deficiency