Polymorphism of alpha-1-antitrypsin (Pi) in the Swiss population determined by isoelectric focusing with an immobilized pH gradient

Hum Hered. 1988;38(2):106-10. doi: 10.1159/000153767.

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.

Publication types

  • Comparative Study

MeSH terms

  • Alleles
  • Blood Protein Electrophoresis / methods
  • Europe
  • Gene Frequency
  • Humans
  • Hydrogen-Ion Concentration
  • Isoelectric Focusing / methods
  • Phenotype
  • Polymorphism, Genetic*
  • Switzerland
  • alpha 1-Antitrypsin / analysis
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency

Substances

  • alpha 1-Antitrypsin