Article
Polymerase chain reaction-mediated site-directed mutagenesis detection of Z and S alpha-1-antitrypsin alleles in family members.
Journal of clinical laboratory analysis - 1 Jan 1996
Hammerberg G, Keren D F
Abstract excerpt
Alpha-1-antitrypsin (A1AT) deficiency is an autosomal hereditary disorder with a reduction in serum A1AT levels. In a large family, we used a polymerase chain reaction (PCR)-mediated, site-directed mutagenesis assay to detect the two most common A1AT deficient variants, Z and S. By coamplificatio...
Topics
- Alleles
- DNA Primers
- Electrophoresis, Agar Gel
- Female
- Genetic Diseases, Inborn
- Genotype
- Heterozygote
- Homozygote
- Humans
- Immunoassay
- Isoelectric Focusing
- Isoenzymes
- Male
- Mutagenesis, Site-Directed
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction