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Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α1-antitrypsin deficiency variant Pduarte by J. Hildesheim; G. Kinsley; M. Bissell; J. Pierce; M. Brantly is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Genetic diversity from a limited repertoire of mutations on different common allelic backgrounds: α1-antitrypsin deficiency variant Pduarte about?

a,-Antitrypsin (a1 AT) is one of the most polymorphic gene loci in the human genome. a1 AT variants are typically identified by their migration position in an isoelectric focusing gel at pH 9-5. Heterogeneity of the isoelectric point of a 1 A T variants, hence variant migration, most often results from amino acid substitutions which alter the net charge of the molecule. We identified an individual heterozygous for an a1 AT variant migrating in the "P" variant region which differs from other known "I"' variants. Using isoelectric focusing on an immobilized pH gradient at pH 4.50-4.85 the novel P allele, Pduarte> migrates between P,, albans and Plowell. Densitometric analysis of normal "M" type a1 AT and the deficiency variant Plowell major bands separated by isoelectric focusing demonstrates that Pduarre contributes approximately 41% as much a1 AT to the total serum a l A T concentration as the normal "M" a l A T , similar to Plowell. Direct DNA sequencing of the proband's genomic DNA demonstrates that the Pduarre allele differs from the normal Ml(V213) allele by two amino acid substitutions, RlOl (CGT)+ H(CAT) and D256 (GAT)+V ( G n ) . Individually, these amino acid substitutions

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Author

J. Hildesheim; G. Kinsley; M. Bissell; J. Pierce; M. Brantly

Publisher

Hindawi Limited

Published

1993

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)