title: alpha 1-Antitrypsin (Pi) types and subtypes in the Tyrolean population.
abstract: Since nine patients with infantile liver cirrhosis or hepatopathy associated with the Pi ZZ phenotype had been observed in recent years in the Children's Hospital of the University of Innsbruck, Tyrol, the distribution of the Pi types and the PiM subtypes was determined in the Tyrolean population. Apparently healthy blood donors (868) from different regions of Tyrol were examined. Isoelectricfocusing was used for classification of Pi types. The frequency of the allele PiZ was 0.0138, which corresponded to the range observed in other Middle European populations. The frequencies for the suballeles of PiM were PiM1 = 0.7062, PiM2 = 0.1480, and PiM3 = 0.1037. PiS had a frequency of 0.0225, the other rare alleles occurred with a combined frequency of 0.0058.
mesh_terms: D000483:Alleles; D001317:Austria; D003710:Demography; D005787:Gene Frequency; D006801:Humans; D007525:Isoelectric Focusing; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
chemical_list: D000515:alpha 1-Antitrypsin