Current Biology
DispatchHuman Genetics: What is good about cystic fibrosis?
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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.