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. 1996 Jul;143(3):1457–1465. doi: 10.1093/genetics/143.3.1457

The Amount of DNA Polymorphism Maintained in a Finite Population When the Neutral Mutation Rate Varies among Sites

F Tajima 1
PMCID: PMC1207412  PMID: 8807315

Abstract

The expectations of the average number of nucleotide differences per site (π), the proportion of segregating site (s), the minimum number of mutations per site (s*) and some other quantities were derived under the finite site models with and without rate variation among sites, where the finite site models include Jukes and Cantor's model, the equal-input model and Kimura's model. As a model of rate variation, the gamma distribution was used. The results indicate that if distribution parameter α is small, the effect of rate variation on these quantities are substantial, so that the estimates of θ based on the infinite site model are substantially underestimated, where θ = 4Nv, N is the effective population size and v is the mutation rate per site per generation. New methods for estimating θ are also presented, which are based on the finite site models with and without rate variation. Using these methods, underestimation can be corrected.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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