Current Biology
Volume 4, Issue 8, August 1994, Pages 742-743
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Human Genetics: What is good about cystic fibrosis?

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Abstract

The remarkably high level of cystic fibrosis mutations among Caucasians may be due to a reduction in heterozygotes in the severity of the diarrhea caused by enterotoxic bacteria.

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For a lethal disease caused by recessive mutations of a single gene, the incidence of cystic fibrosis is remarkably high: about 1 in 2500 Caucasians suffer from cystic fibrosis, implying that about 1 in 20 copies of the gene responsible carry disease-causing mutations. The mutations must confer some advantage in the heterozygous state to account for their maintenance at such high population frequencies, but the nature of that advantage remains a puzzle. An impressive array of conjectures have

Acknowledgements

I sincerely thank Gary Schoolnik and Liesbet Joris-Quinton for very helpful discussions.

Paul M. Quinton, Biomedical Sciences, University of California, Riverside, California 92521-0121, USA.

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Paul M. Quinton, Biomedical Sciences, University of California, Riverside, California 92521-0121, USA.

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