title: Reliable classification of six Pi M subtypes by separator isoelectric focusing.
abstract: For the first time, segregation of three common PiM alleles in family material is verified by application of separator isoelectric focusing. A new nomenclature system for the Pi M subtypes is used, whereby the common subtypes are designated according to their physicochemical properties; the most anodal type is called Pi M1, the intermediary one Pi M2, and the most cathodal variant Pi M3 (previously called Pi M2). Pi gene frequencies from Finnish, Dutch and Black populations are presented. The PiM2 allele was rather high in Finns (0.12) but low (0.04) in the West African Bozo. The PiM3 was found with a frequency of 0.13 in Dutch, 0.08 in Finns and 0.02 in Bozo. A previous Finnish sample was retested with the new subtyping method and the six-subtype distribution was found to be in good Hardy-Weinberg equilibrium. The validity of the Pi polymorphism for population genetics, linkage analysis and parentage testing is discussed.
mesh_terms: D000354:Africa, Western; D000483:Alleles; D005260:Female; D005387:Finland; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D009426:Netherlands; D010375:Pedigree; D009626:Terminology as Topic; D000515:alpha 1-Antitrypsin / Q000235:genetics
chemical_list: D000515:alpha 1-Antitrypsin