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  • Title: Alpha-1-antitrypsin-deficient phenotype is not maintained by segregation distortion.
    Author: Suarez BK, Pierce JA.
    Journal: Am J Phys Anthropol; 1983 Sep; 62(1):19-22. PubMed ID: 6605092.
    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.
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