PT - JOURNAL ARTICLE
AU - Valdes, A M
AU - Slatkin, M
AU - Freimer, N B
TI - Allele frequencies at microsatellite loci: the stepwise mutation model revisited.
DP - 1993 Mar 01
TA - Genetics
PG - 737--749
VI - 133
IP - 3
4099 - http://www.genetics.org/content/133/3/737.short
4100 - http://www.genetics.org/content/133/3/737.full
SO - Genetics1993 Mar 01; 133
AB - 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.