Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage

@article{Woolf1975PhenylketonuriaAA,
  title={Phenylketonuria as a balanced polymorphism: the nature of the heterozygote advantage},
  author={L. Woolf and M. McBean and F. Woolf and S. Cahalanf},
  journal={Annals of Human Genetics},
  year={1975},
  volume={38}
}
Mothers of children with phenylketonuria have a significantly lower miscarriage rate than a matched control population in Ireland and west Scotland. This protective effect of the gene against some factor causing foetal death would seem to constitute a heterozygote advantage which might account for the previously observed polymorphism for phenylketonuria. It is suggested that the decrease in foetal mortality is mediated by the higher concentration of phenylalanine in the heterozygous mother's… Expand
Phenylketonuria: A balanced polymorphism in Europe?
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Phenylketonuria is a highly deleterious recessive pathology of amino acid metabolism in which estimated allele frequencies may reach as high as 1·0 to 1·5% in some populations, and there may be, heterozygote advantage. Expand
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Heterozygote advantage presumably explains the presence of the allele at frequencies above those to be expected from the simple replacement of a homozygously-lethal allele by mutation alone. Expand
Heterozygote advantage for the phenylketonuria allele.
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  • Biology, Medicine
  • Journal of medical genetics
  • 1978
TLDR
Heterozygote advantage presumably explains the presence of the allele at frequencies above those to be expected from the simple replacement of a homozygously-lethal allele by mutation alone. Expand
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Molecular genetic data generated over the last decade suggest that the concomitant excess of (unaffected) PKU carriers is at least in part the result of overdominant selection (“heterozygous advantage”). Expand
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Abstract We studied the effects of maternal phenylketonuria and hyperphenylalaninemia on 53 offspring from untreated pregnancies in 22 mothers who were identified by routine screening ofExpand
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TLDR
Clinical and molecular basis of the PKU disease, with emphasis on the studies performed in Iranian population, were reviewed and investigated toward the elucidation of molecular aspects of the disease. Expand
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A method has been developed which offers a better approach to the study of heterozygotes fertility in those autosomal recessive conditions which lack a test for direct heterozygote detection. Expand
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The results do not provide support for the "justification" hypothesis that the mental and neurological defects in phenylketonuria result from prenatal tyrosine deprivation which would be reflected in lower birthweights. Expand
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TLDR
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