Estimating Effective Population Size or Mutation Rate with Microsatellites

Hongyan Xu, Yun Xin Fu

Research output: Contribution to journalArticlepeer-review

48 Scopus citations


Microsatellites are short tandem repeats that are widely dispersed among eukaryotic genomes. Many of them are highly polymorphic; they have been used widely in genetic studies. Statistical properties of all measures of genetic variation at microsatellites critically depend upon the composite parameter θ = 4Nμ, where N is the effective population size and μ is mutation rate per locus per generation. Since mutation leads to expansion or contraction of a repeat number in a stepwise fashion, the stepwise mutation model has been widely used to study the dynamics of these loci. We developed an estimator of θ, θF, on the basis of sample homozygosity under the single-step stepwise mutation model. The estimator is unbiased and is much more efficient than the variance-based estimator under the single-step stepwise mutation model. It also has smaller bias and mean square error (MSE) than the variance-based estimator when the mutation follows the multistep generalized stepwise mutation model. Compared with the maximum-likelihood estimator θL by NIELSEN (1997), θF has less bias and smaller MSE in general. θL has a slight advantage when θ is small, but in such a situation the bias in θL may be more of a concern.

Original languageEnglish (US)
Pages (from-to)555-563
Number of pages9
Issue number1
StatePublished - Jan 2004
Externally publishedYes

ASJC Scopus subject areas

  • Genetics


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