Alpha‐I‐antitrypsin (Pi) phenotypes in Lyon, France: departure from Hardy‐Weinberg equilibrium

Abstract

The validity of the Hardy‐Weinberg equilibrium for Pi phenotypes was tested in a population of 1,653 randomly selected, healthy blood donors in Lyon, France. A significant departure from the equilibrium was found, with an excess of FF and SS homozygotes and a deficiency of FM heterozygotes.

Pi phenotypes of alpha1‐antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies

“…Important causes might include technical difficulties, the possibility that a proportion represent heterozygous null phenotypes (Altay et al 1973), and departure from Hardy-Weinberg cquilibrium. The latter has been previously proposed to account for the observed gene frequencies in the case of the F and S alleles (Arnaud et al 1977b) and for the M2 allele (Klasen et al 1977).…”