title: Polymorphism of alpha-1-antitrypsin (Pi) in the Swiss population determined by isoelectric focusing with an immobilized pH gradient.
abstract: The distribution of the phenotypes of alpha-1-antitrypsin (Pi) was investigated in a Swiss population sample of 1,148 unrelated individuals using isoelectric focusing with a immobilized pH gradient. A short focusing period of only 2 h using high-voltage is an additional asset of this modified method. All common as well as the rarer phenotypes were reliably detected. However, detection of Pi M4 required a narrower pH range as chosen for routine work. The allele frequencies found were: PiM1:0.7121; PiM2:0.1381; PiM3:0.0976; PiS:0.0383; PiZ:0.0113; PiVar(I, N, V.Vdon):0.0026.
authors.affiliation: Institute of Forensic Medicine, University of Zurich, Switzerland.
authors.forename: W
authors.initials: W
authors.lastname: Bär
authors.forename: A
authors.initials: A
authors.lastname: Kratzer
mesh_terms: D000483:Alleles; D001797:Blood Protein Electrophoresis / Q000379:methods; D005060:Europe; D005787:Gene Frequency; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007525:Isoelectric Focusing / Q000379:methods; D010641:Phenotype; D011110:Polymorphism, Genetic; D013557:Switzerland; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin