Distribution of the six alpha 1-antitrypsin (PI) subtypes from a sample of blood donors.
The PI M phenotype of alpha 1-antitrypsin was classified into six subtypes determined by three alleles: PI*MI, PI*M2 and PI*M3. Phenotypes were classified by isoelectric focusing and their distribution agreed closely with Hardy-Weinberg expectations. The proportion of heterozygotes was 53%, which more than trebles the heterozygosity without subtyping, and is comparable to a recent estimate from U.S. whites.
D001315:Australia; D001782:Blood Donors; D006801:Humans; D007525:Isoelectric Focusing; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism
D000515:alpha 1-Antitrypsin