Article
Molecular characterisation of two alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) Null(Newport) (Gly115----Ser) and (Pi) Z Wrexham (Ser-19----Leu).
Human genetics - 1 Oct 1990
Graham A, Kalsheker N A, Bamforth F J, Newton C R, Markham A F
Abstract excerpt
Two single point mutations in the alpha-1-antitrypsin gene, resulting in AAT deficiency, have been characterised in heterozygotes by DNA amplification and direct sequencing. The mutations result in amino acid substitutions, Gly115----Ser and Ser-19----Leu, in the leader sequence, respectively, an...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Female
- Gene Amplification
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- alpha 1-Antitrypsin
- alpha 1-Antitrypsin Deficiency