PiT: a new allele in the alpha 1-antitrypsin system

Hum Genet. 1979;50(2):221-3. doi: 10.1007/BF00390245.

Abstract

In a genetic investigation of the population in Hessen, Germany, we found a family with a new, rare allele in the Pi system (alpha 1-antitrypsin). According to electrophoretic analysis and isoelectric focusing patterns, it is designated PiT. A pedigree study suggests autosomal codominant inheritance. The serum concentration of six heterozygous carriers of this allele (phenotype M1T or M2T) revealed normal alpha 1-antitrypsin levels.

MeSH terms

  • Adult
  • Alleles*
  • Electrophoresis, Polyacrylamide Gel
  • Genes, Dominant
  • Genetic Carrier Screening
  • Genetic Variation*
  • Germany, West
  • Humans
  • Pedigree
  • Phenotype
  • alpha 1-Antitrypsin / genetics*

Substances

  • alpha 1-Antitrypsin