Article
Detection of genetic variants of alpha 1-antitrypsin with site-specific monoclonal antibodies.
Clinical chemistry - 1 Sept 1991
Zegers N D, Claassen E, Gerritse K, Deen C, Boersma W J
Abstract excerpt
The serum protein alpha 1-antitrypsin (alpha 1-AT) serves as the major inhibitor of neutrophil elastase. The most common allele of the alpha 1-AT gene is designated as PiM. The Z mutation is a single-base substitution of the normal M allele, causing a Glu----Lys change at position 342 in the molecule. The ZZ phenotype is associated with a severe deficiency of alpha 1-AT, serum concentrations of the protein being...
Topics
- Animals
- Antibodies, Monoclonal
- Blotting, Western
- Emphysema
- Enzyme-Linked Immunosorbent Assay
- Female
- Genetic Variation
- Heterozygote
- Homozygote
- Humans
- Isoelectric Focusing