2007/09/28 by Jaume Bertranpetit, Francesc Calafell · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Cystic Fibrosis Research Advances #Vibrio bacteria research studies #Nematode management and characterization studies
paper · doi:10.1002/9780470514887.ch6
openalex publication_date 2007/09/28 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/27
We have studied cystic fibrosis from an evolutionary perspective by focusing on three main points: the high frequency of cystic fibrosis; the different spectrum of mutations that cause the disease in different areas of Europe; and the age of the delta F508 mutation. Several hypotheses have been suggested to explain the high frequency of cystic fibrosis. We argue that the most plausible is heterozygote resistance to cholera and to other dehydrating intestinal diseases. Different population sizes in the past could explain the higher diversity among cystic fibrosis mutations found in southern Europe. Three microsatellite loci are found close to the delta F508 mutation. The reconstruction of the original microsatellite haplotype in which delta F508 arose, and of the genealogy of the microsatellite haplotypes bearing the mutation, allowed us to date the mutation event at around 50,000 years ago.