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The effect of mutation on linkage disequilibrium
1Medical Research Council Human Genetics Unit, Western General Hospital, Edinburgh.
Annals of Human Genetics
|May 1, 1992
Summary
This study extends the standard formula for genetic linkage equilibrium to include mutation effects. It concludes that mutation
Area of Science:
- Population genetics
- Molecular evolution
Background:
- Linkage disequilibrium describes non-random association of alleles at different loci.
- The standard formula for approaching equilibrium relies on recombination probability.
Purpose of the Study:
- To extend the standard formula for linkage equilibrium to incorporate mutation.
- To evaluate the impact of mutation on the approach to equilibrium.
Main Methods:
- Mathematical modeling of genetic loci.
- Extension of the Li (1955) formula for linkage equilibrium.
Main Results:
- A formula incorporating mutation effects at one or both diallelic loci was derived.
- The impact of mutation on approaching linkage equilibrium was quantified.
Conclusions:
- Mutation's effect on approaching linkage equilibrium is generally minor.
- This finding contrasts with some recent hypotheses regarding mutation's importance.