Article
Polymerase chain reaction detection of S and Z alpha-1-antitrypsin variants by duplex PCR assay.
Molecular and cellular probes - 1 Oct 1999
Lucotte G, Sesboüé R
Abstract excerpt
A polymerase chain reaction (PCR) assay was used to detect the two most common alpha-1-antitrypsin (A1AT) deficiency variants, S and Z. By co-amplification using primers for both the S and Z mutations, we were able to detect heterozygous and homozygous genotypes for both mutations and normal type M in a single duplex reaction. We validated our assay by comparison with phenotype studies obtained by the standard...
Topics
- Alleles
- Base Sequence
- Genetic Testing
- Genetic Variation
- Genotype
- Humans
- Mutagenesis, Site-Directed
- Mutation
- Polymerase Chain Reaction
- Serine Proteinase Inhibitors
- alpha 1-Antitrypsin