Hum Hered. 1991;41(4):215-21.

Population genetics of alpha-1-antitrypsin polymorphism in US whites, US blacks and African blacks.

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Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pa.

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.

PMID:: 1783408; [PubMed - indexed for MEDLINE]

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alpha 1-Antitrypsin

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