Allele frequencies at microsatellite loci: The stepwise mutation model revisited
- Univ. of California, Berkeley (United States)
- Univ. of California, San Francisco (United States)
The authors 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. They 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. It is also shown 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. 39 refs., 6 figs., 4 tabs.
- OSTI ID:
- 6376493
- Journal Information:
- Genetics; (United States), Vol. 133:3; ISSN 0016-6731
- Country of Publication:
- United States
- Language:
- English
Similar Records
VNTR allele frequency distributions under the stepwise mutation model: A computer simulation approach
Does the evolutionary conservation of microsatellite loci imply function?