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Previous ArticleNext Article

Allele frequencies at microsatellite loci: the stepwise mutation model revisited.

A M Valdes, M Slatkin and N B Freimer
Genetics March 1, 1993 vol. 133 no. 3 737-749
A M Valdes
Department of Integrative Biology, University of California, Berkeley 94720.
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M Slatkin
Department of Integrative Biology, University of California, Berkeley 94720.
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N B Freimer
Department of Integrative Biology, University of California, Berkeley 94720.
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Abstract

We summarize available data on the frequencies of alleles at microsatellite loci in human populations and compare observed distributions of allele frequencies to those generated by a simulation of the stepwise mutation model. We show that observed frequency distributions at 108 loci are consistent with the results of the model under the assumption that mutations cause an increase or decrease in repeat number by one and under the condition that the product Nu, where N is the effective population size and u is the mutation rate, is larger than one. We show that the variance of the distribution of allele sizes is a useful estimator of Nu and performs much better than previously suggested estimators for the stepwise mutation model. In the data, there is no correlation between the mean and variance in allele size at a locus or between the number of alleles and mean allele size, which suggests that the mutation rate at these loci is independent of allele size.

  • Copyright © 1993 by the Genetics Society of America
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Volume 133 Issue 3, March 1993

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Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
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Allele frequencies at microsatellite loci: the stepwise mutation model revisited.

A M Valdes, M Slatkin and N B Freimer
Genetics March 1, 1993 vol. 133 no. 3 737-749
A M Valdes
Department of Integrative Biology, University of California, Berkeley 94720.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
M Slatkin
Department of Integrative Biology, University of California, Berkeley 94720.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
N B Freimer
Department of Integrative Biology, University of California, Berkeley 94720.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
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Citation

Allele frequencies at microsatellite loci: the stepwise mutation model revisited.

A M Valdes, M Slatkin and N B Freimer
Genetics March 1, 1993 vol. 133 no. 3 737-749
A M Valdes
Department of Integrative Biology, University of California, Berkeley 94720.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
M Slatkin
Department of Integrative Biology, University of California, Berkeley 94720.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
N B Freimer
Department of Integrative Biology, University of California, Berkeley 94720.
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site

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The Genetics Society of America (GSA), founded in 1931, is the professional membership organization for scientific researchers and educators in the field of genetics. Our members work to advance knowledge in the basic mechanisms of inheritance, from the molecular to the population level.

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