Human genetics. What is good about cystic fibrosis?
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1University of California, Riverside 92521-0121.
Current Biology : CB
|August 1, 1994
Insights
Cystic fibrosis mutations are common in Caucasians. This may be because carrying one copy of the mutation reduces the severity of diarrhea from bacterial infections.
Area of Science:
- Genetics
- Microbiology
- Epidemiology
Background:
- Cystic fibrosis (CF) is a genetic disorder.
- High prevalence of CF mutations observed in Caucasian populations.
- Enterotoxic bacteria can cause severe diarrhea.
Purpose of the Study:
- Investigate the evolutionary advantage of cystic fibrosis mutations.
- Explore the link between CF heterozygosity and resistance to bacterial infections.
Main Methods:
- Population genetics analysis.
- Review of epidemiological data on CF prevalence.
- Assessment of enterotoxic bacterial infection severity in relation to CF genotype.
Main Results:
- A significant reduction in the severity of diarrhea was observed in individuals with one copy of common cystic fibrosis mutations when infected with enterotoxic bacteria.
- This protective effect may contribute to the maintenance of high allele frequencies in Caucasian populations.
Conclusions:
- Heterozygosity for cystic fibrosis mutations may confer a selective advantage against enterotoxic bacterial infections.
- This heterozygote advantage could explain the high prevalence of cystic fibrosis mutations in Caucasian populations.
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.