| | |  | | | | Record from Web of Science® | | | | | | |
| ALLELE FREQUENCIES AT MICROSATELLITE LOCI - THE STEPWISE MUTATION MODEL REVISITED |
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| Author(s): VALDES AM, SLATKIN M, FREIMER NB |
| Source: GENETICS Volume: 133 Issue: 3 Pages: 737-749 Published: MAR 1993 |
| Times Cited: 390 References: 39 |
| 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: VALDES, AM (reprint author), UNIV CALIF BERKELEY, DEPT INTEGRAT BIOL, BERKELEY, CA 94720 USA |
Addresses:
1. UNIV CALIF SAN FRANCISCO, DEPT PSYCHIAT, SAN FRANCISCO, CA 94143 USA |
| Publisher: GENETICS, 428 EAST PRESTON ST, BALTIMORE, MD 21202 |
| Subject Category: Genetics & Heredity |
| IDS Number: KP816 |
| ISSN: 0016-6731 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |