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Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles

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Summary

The observation that mothers of cystic fibrosis patients come from sibships that are larger than those of the fathers is explained by a decrease in sex ratio with increasing size of parental sibships. This feature also provides the basis for a new theory for the dissemination of the major mutant allele, deduced to have arisen 2700–5000 years ago, in accordance with an overall heterozygote advantage of around 3%. In heterozygous women with heterozygous partners, sex-related selection probably occurs after fertilization.

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  1. Division of Human Genetics, School of Pathological Sciences, 19 Claremont Place, NE2 4AA, Newcastle upon Tyne, UK

    Dorian J. Pritchard

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  1. Dorian J. Pritchard
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Pritchard, D.J. Cystic fibrosis allele frequency, sex ratio anomalies and fertility: a new theory for the dissemination of mutant alleles. Hum Genet 87, 671–676 (1991). https://doi.org/10.1007/BF00201723

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  • DOI: https://doi.org/10.1007/BF00201723

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