title: Alpha-1-antitrypsin-deficient phenotype is not maintained by segregation distortion.
abstract: Recent reports have suggested that the alpha-1-antitrypsin allele PiZ, which in homozygotes results in severe deficiency of this important protease inhibitor, is maintained at a relatively high gene frequency through the mechanism of segregation distortion. We report here on 121 nuclear families selected because only one parent was segregating the Z allele. After correcting for ascertainment, no evidence of preferential transmission was observed in 278 informative offspring.
mesh_terms: D003433:Crosses, Genetic; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
chemical_list: D000515:alpha 1-Antitrypsin