title: Population genetics of alpha-1-antitrypsin polymorphism in US whites, US blacks and African blacks.
abstract: An isoelectric focusing (IEF) procedure in an ultra-narrow pH range, 4.2-4.9, has been utilized to detect alpha 1-antitrypsin or alpha 1-protease inhibitor (PI) allele products in 2 US white and 3 US black populations as well as 1 native African black population. In addition to the 3 common alleles PI*M1, PI*M2 and PI*M3, products of the 4th allele PI*M4 have been identified in US whites at low-level frequency. The presence of the PI*S, PI*Z and PI*I alleles has also been verified in our population samples. While the PI*S allele is present at a polymorphic level in US whites, it is only present sporadically in US blacks and is completely absent in African blacks. The PI*Z allele was not detected in the black populations tested. The PI allele frequency data have been used to calculate white admixture in US blacks.
authors.affiliation: Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pa.
authors.forename: S
authors.initials: S
authors.lastname: DeCroo
authors.forename: M I
authors.initials: MI
authors.lastname: Kamboh
authors.forename: R E
authors.initials: RE
authors.lastname: Ferrell
mesh_terms: D000349:Africa / Q000208:ethnology; D044383:Black People / Q000235:genetics*; D002874:Chromosome Mapping; D005787:Gene Frequency / Q000235:genetics*; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D014481:United States / Q000208:ethnology; D044465:White People / Q000235:genetics*; D000515:alpha 1-Antitrypsin / Q000235:genetics*; D001741:Black or African American
chemical_list: D000515:alpha 1-Antitrypsin