Determination of alpha-1-antitrypsin phenotypes and M subtypes by isoelectric focusing in immobilized pH gradients. 1985

K P Brooks, and R M Iammarino

A procedure to determine alpha-1-antitrypsin phenotypes (Pi types), including the six common PiM subtypes, is described. Phenotypes of the inhibitor, including the deficiency phenotype PiZ and the PiM subtypes, can be identified by isoelectric focusing in an immobilized pH gradient with a pH range of 4.2 to 5.0 or 4.0 to 5.0. This method gives clear separation of M, S, V, P and Z allele products. Up to 24 samples can be analyzed in a single overnight run using commercially available equipment and reagents.

UI MeSH Term Description Entries
D007525 Isoelectric Focusing Electrophoresis in which a pH gradient is established in a gel medium and proteins migrate until they reach the site (or focus) at which the pH is equal to their isoelectric point. Electrofocusing,Focusing, Isoelectric
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D001782 Blood Donors Individuals supplying blood or blood components for transfer to histocompatible recipients. Blood Donor,Donor, Blood,Donors, Blood
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006863 Hydrogen-Ion Concentration The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH pH,Concentration, Hydrogen-Ion,Concentrations, Hydrogen-Ion,Hydrogen Ion Concentration,Hydrogen-Ion Concentrations
D000515 alpha 1-Antitrypsin Plasma glycoprotein member of the serpin superfamily which inhibits TRYPSIN; NEUTROPHIL ELASTASE; and other PROTEOLYTIC ENZYMES. Trypsin Inhibitor, alpha 1-Antitrypsin,alpha 1-Protease Inhibitor,alpha 1-Proteinase Inhibitor,A1PI,Prolastin,Serpin A1,Zemaira,alpha 1 Antiprotease,alpha 1-Antiproteinase,1-Antiproteinase, alpha,Antiprotease, alpha 1,Inhibitor, alpha 1-Protease,Inhibitor, alpha 1-Proteinase,Trypsin Inhibitor, alpha 1 Antitrypsin,alpha 1 Antiproteinase,alpha 1 Antitrypsin,alpha 1 Protease Inhibitor,alpha 1 Proteinase Inhibitor
D000665 Ampholyte Mixtures Such mixtures of amphoteric electrolytes or buffers that provide a continuous range of pH in an electric field; used for separating proteins by their isoelectric points, i.e., by isoelectric focusing. Ampholines,Ampholyte,Ampholyte Mixture,Carrier Ampholyte,Carrier Ampholytes,Isoelectric Focusing Agent,Isoelectric Focusing Agents,Pharmalyte,Pharmalytes,Ampholytes,Servalyte,Agent, Isoelectric Focusing,Ampholytes, Carrier

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