Article
Characterization of the molecular basis of the alpha 1-antitrypsin F allele.
American journal of human genetics - 1 Jun 1991
Okayama H, Brantly M, Holmes M, Crystal R G
Abstract excerpt
alpha 1-Antitrypsin (alpha 1AT), the major serum inhibitor of neutrophil elastase, is a highly polymorphic serum protein associated with characteristic isoelectric-focusing (IEF) patterns for most variants. To characterize the molecular basis of the anodal F variant, the DNA sequence of the coding exons of an FZ individual was determined. The F allele differed from the normal M1(Val213) alpha 1AT allele by a...
Topics
- Alleles
- Autoradiography
- Base Sequence
- Exons
- Humans
- Isoelectric Focusing
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- alpha 1-Antitrypsin