Allele Frequencies at Microsatellite Loci: The Stepwise Mutation Model Revisited

Allele Frequencies at Microsatellite Loci: The Stepwise Mutation Model Revisited A. M. Valdes, M. Slatkin and N. B. Freimer Department of Integrative Biology, University of California, Berkeley California 94720 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Genetics Genetics Society of America

Allele Frequencies at Microsatellite Loci: The Stepwise Mutation Model Revisited

Genetics, Volume 133 (3): 737 – Mar 1, 1993

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Publisher
Genetics Society of America
Copyright
Copyright © 1993 by the Genetics Society of America
ISSN
0016-6731
eISSN
1943-2631
Publisher site
See Article on Publisher Site

Abstract

A. M. Valdes, M. Slatkin and N. B. Freimer Department of Integrative Biology, University of California, Berkeley California 94720 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.

Journal

GeneticsGenetics Society of America

Published: Mar 1, 1993

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