Alpha-1-Antitrypsin Allele PiS Fails to Show Segregation Distortion

Abstract

Recent reports suggest that despite negative selection pressure, the deficient alpha-1-antitrypsin allele, Pi^Z, is maintained in a state of balanced polymorphism through the action of segregation distortion in heterozygous males. Published family data suggest that the same mechanism may be operating on behalf of the partially deficient allele Pi^S. Back-cross and intercross data, involving more than 250 informative meioses for Pi^S are reported here. Segregation analysis fails to confirm the hypothesis that the Pi^S allele is preferentially transmitted.