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Do delta F508 heterozygotes have a selective advantage?

¹Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK. wiuf@stats.ox.ac.uk

Genetical Research

|September 15, 2001

Summary

The delta F508 mutation in cystic fibrosis may be favored by positive selection, but negative selection is also possible. This mutation is at least 580 generations old, with its exact age depending on mutation rates.

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Area of Science:

Population genetics
Human genetics
Evolutionary biology

Background:

The delta F508 mutation is the most common mutation causing cystic fibrosis.
Understanding the evolutionary forces acting on this mutation is crucial for genetic studies.

Purpose of the Study:

To assess the fitness of the delta F508 heterozygote.
To estimate the age of the delta F508 mutation in the cystic fibrosis locus.

Main Methods:

Analysis of data from three microsatellite loci.
Conditional analysis based on current delta F508 mutation frequency.
Incorporation of assumptions on European population history and microsatellite mutation rates.

Main Results:

Evidence suggests positive selection favoring delta F508 heterozygotes (2-3% fitness advantage).
Alternatively, negative selection of similar magnitude could explain the data.
The delta F508 mutation is estimated to be at least 580 generations old.

Conclusions:

The evolutionary pressures on the delta F508 mutation are complex, with both positive and negative selection being plausible.
The age estimation provides a minimum generational age for this significant cystic fibrosis mutation.

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