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- Bookedited by Yves Chartier, Jorge Emmanuel, Ute Pieper, Annette Prüss, Philip Rushbrook, Ruth Stringer, William Townend, Susan Wilburn and Raki Zghondi.Digital Access WHO 2014
- ArticleKueppers F, Christopherson MJ.Am J Hum Genet. 1978 Jul;30(4):359-65.Alpha1-antitrypsin is a major human serum protein that shows an extensive polymorphism. Genetic heterogeneity has previously been demonstrated by starch gel electrophoresis. By applying analytical isoelectric focusing (pH 3.5--5.0) to this system, we found a common variant, Pi M3, with an isoelectric point between those of Pi M1 and Pi M2. The gene frequency of this variant was .11 in U.S. whites and .054 in blacks. When PiM3 and PiM1 are included in the Pi system, the heterozygosity at the Pi locus is five times greater in whites and 10 times greater in blacks than that detected by earlier electrophoretic techniques.