A new alpha 1-antitrypsin allele PI Poki: isoelectric focusing with immobilized pH gradients as a tool for identification for PI variants.
A new rare genetic variant PI Poki in the protease inhibitor system found in two Japanese subjects, was compared with some PI P variants using several electrophoresis systems. Although this variant was slightly anodal to P by separator isoelectric focusing, it could be readily distinguished by isoelectric focusing with immobilized pH gradients: the mobility of Poki became cathodal to P. This method proved to be a powerful tool for identification of PI variants.
D000483:Alleles; D005260:Female; D014644:Genetic Variation; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007525:Isoelectric Focusing; D008297:Male; D010375:Pedigree; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000302:isolation & purification
D000515:alpha 1-Antitrypsin