Article
Two novel nonradioactive polymerase chain reaction-based assays of dried blood spots, genomic DNA, or whole cells for fast, reliable detection of Z and S mutations in the alpha 1-antitrypsin gene.
Clinical chemistry - 1 Oct 1992
Andresen B S, Knudsen I, Jensen P K, Rasmussen K, Gregersen N
Abstract excerpt
Two new nonradioactive polymerase chain reaction (PCR)-based assays for the Z and S mutations in the alpha 1-antitrypsin gene are presented. The assays take advantage of PCR-mediated mutagenesis, creating new diagnostic restriction enzyme sites for unambiguous discrimination between test samples...
Topics
- Base Sequence
- Cells, Cultured
- Chorionic Villi
- DNA
- Deoxyribonucleases, Type II Site-Specific
- Female
- Fetus
- Heterozygote
- Homozygote
- Humans
- Molecular Sequence Data
- Mutation