IDENTIFICATION OF HETEROZYGOUS STATE FOR ALPHA1-ANTITRYPSIN DEFICIENCY GENE IN MAN

Alpha1-antitrypsin (α1-at) of individuals homozygous for a gene determining low serum concentrations of this protein can be distinguished electrophoretically from α1-at of homozygotes for the more common gene. Heterozygotes possess both electrophoretic species, and they may have α1-at levels intermediate between those of both homozygotes or may be in the range of the homozygotes for the common gene. The frequency of the gene determining a deficiency of α1-at in a population sample of 100 individuals was 0.075. © 1969 Plenum Publishing Corporation.