alpha1-antitrypsin: common subtypes of Pi M.
More than 20 different alleles are so far known at the Pi locus, corresponding to a total variant phenotype frequency of about 10% in most western Europeans. The common phenotype Pi M constitutes the remaining major group. Now it has been possible to identify three subtypes M1, M1M2 and M2, corresponding to the gene products of two common alleles PiM1 and PiM2, segregating as autosomal codominant alleles. Preliminary gene frequencies are reported for eight populations, the PiM2 frequency varying from 0.20 in Maris (USSR) to 0.02 in Bantus (Kenya).
D000483:Alleles; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007525:Isoelectric Focusing; D010641:Phenotype; D011110:Polymorphism, Genetic; D000515:alpha 1-Antitrypsin
D000515:alpha 1-Antitrypsin