Genetic variations of serum alpha-1-antitrypsin (Pi types) in Normans. Common Pi M subtypes and new phenotypes.
The results of Pi typing by high resolution isoelectric focusing on 1,030 Normans from the area of Rouen (France) is reported. The frequency of the three common subtypes of Pi M is given and new variants partly described. Pi gene frequencies are compared to previously obtained data and results from other countries. The application of high resolution isoelectric focusing to the Pi system is discussed together with the advantages it provides in the knowledge of alpha-1-antitrypsin genetic polymorphism.
D005260:Female; D005602:France; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000032:analysis / Q000235:genetics*
D000515:alpha 1-Antitrypsin