6533b826fe1ef96bd1285202

RESEARCH PRODUCT

Investigations on the population genetics of the alpha-1-antitrypsin polymorphism.

H. WalterG. Kellermann

subject

AdultElectrophoresisMaleAdolescentGenotypePopulationPopulation geneticsBiologyPolymorphism (computer science)GeneticsHumansAlleleeducationAllele frequencyGenetics (clinical)AllelesGeneticseducation.field_of_studyPolymorphism GeneticMiddle AgedPhenotypeHuman geneticsGenotype frequencyPhenotypeFemaleTrypsin Inhibitors

description

The results of Pi-typing on 2647 individuals from 9 populations are reported. Of the 17 phenotypes and 9 alleles described in literature, we found 12 phenotypes and 8 alleles. The population smaples differ characteristically in their allele frequencies. The allle PiM appears constantly in all populations tested with a frequency of more than 0.85. The alleles PiF (0.01–0.11), PiS (0.01–0.02) and PiZ (0.01–0.02) were also relatively frequent in all samples. All the other alleles remain below 0.01. A great increase in the number of Pi-variants was observed in the Central European area. The frequency of α1-at variants in various populations is discussed.

10.1007/bf00295513https://pubmed.ncbi.nlm.nih.gov/5507048