PMID: 6965658Feb 1, 1980Paper

Alpha 1-antitrypsin (pi) phenotypes in a village population from The Gambia, West Africa. Evidence of a new variant occurring at a polymorphic frequency

Human Genetics
S G WelchK Williams

Abstract

A total of 701 individuals from a village in The Gambia, West Africa were tested for serum alpha 1-antitrypsin phenotypes by isoelectric focusing in thinlayer polyacrylamide gels (pH 4--5). A new variant allele, PiGAM, was discovered at a polymorphic frequency (0.0642), and the inheritance of the variant phenotype was confirmed by family studies. The variant was not found to be associated with any decrease in serum alpha 1-antitrypsin concentration. The only other allele found within this population was the common allele PiM (0.9358).

Citations

Oct 1, 1988·Annals of the Rheumatic Diseases·W OllierA Silman
Mar 19, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Frederick J de SerresEnrique Fernández-Bustillo

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