Alpha-1-antitrypsin: evidence for a fifth PI M subtype and a new deficiency allele PI*Z augsburg

Hum Genet. 1985;71(1):27-9. doi: 10.1007/BF00295662.

Abstract

The phenotypes of the protease inhibitor (PI) alpha-1-antitrypsin have been analyzed by isoelectric focusing on polyacrylamide gels. With improved resolution by a modified procedure it was possible to demonstrate a fifth PI*M suballele. The bands of PI M5 are located between PI M1 and PI M3. In addition, a further deficiency allele similar to PI*Z was found in a female patient with obstructive pulmonary disease. This variant was provisionally named PI Z augsburg (PI Z aug). Family data confirm a simple codominant mode of inheritance for PI Z aug.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Alleles*
  • Child, Preschool
  • Female
  • Humans
  • Isoelectric Focusing
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Polymorphism, Genetic
  • alpha 1-Antitrypsin / genetics*
  • alpha 1-Antitrypsin Deficiency

Substances

  • alpha 1-Antitrypsin