Classification of alpha1-antitrypsin (Pi) phenotypes by isoelectrofocusing. Distinction of six subtypes of the PiM phenotype

Hum Genet. 1977 Oct 14;38(3):325-32. doi: 10.1007/BF00402159.

Abstract

Pi phenotypes have been determined by isoelectrofocusing in a sample of 538 healthy individuals from Southern Germany. Further subdivision of the common PiM phenotype is described. A procedure for the delineation of six common subtypes is presented. It is assumed that the six subtypes are determined by three alleles which are provisionally called PiMa, PiMb, and PiMc. Their frequencies in this sample were 0.75, 0.06, and 0.15, respectively.

MeSH terms

  • Alleles
  • Gene Frequency
  • Germany, West
  • Humans
  • Isoelectric Focusing
  • Phenotype
  • alpha 1-Antitrypsin / genetics*

Substances

  • alpha 1-Antitrypsin