ESTIMATING GENETIC VARIABILITY WITH RESTRICTION ENDONUCLEASES

1 Department of Biology, University of Pennsylvania, Philadelphia, Pennsylvania 19104

The estimation of the amount of sequence variation in samples of homologous DNA segments is considered. The data are assumed to have been obtained by restriction endonuclease digestion of the segments, from which the numbers and frequencies of the cleavage sites in the sample are determined. An estimator, p, of the proportion of sites that are polymorphic in the sample is derived without assuming any particular population genetic model for the evolution of the population. The estimator is very close to the Ewens, Spielman and Harris (1981) estimator that was derived with the symmetric Wright-Fisher neutral model. Engels (1981) has also recently proposed an estimator of the same quantity, and he arrived at his estimator without assuming a particular population genetic model. The sampling variance of p and Engels' estimator are derived. It is found that the sampling variance of p is lower than the sampling variance of Engels' estimator. Also, the sampling variance of theta, an estimate of theta (=4Nu) is obtained for the symmetric Wright-Fisher neutral model with free recombination and with no recombination.

Submitted on September 8, 1981
Accepted on January 6, 1982




This article has been cited by other articles:


Home page
Mol Biol EvolHome page
W. S. Kendal
An Exponential Dispersion Model for the Distribution of Human Single Nucleotide Polymorphisms
Mol. Biol. Evol., April 1, 2003; 20(4): 579 - 590.
[Abstract] [Full Text] [PDF]


Home page
GeneticsHome page
A. D. Long, R. F. Lyman, A. H. Morgan, C. H. Langley, and T. F. C. Mackay
Both Naturally Occurring Insertions of Transposable Elements and Intermediate Frequency Polymorphisms at the achaete-scute Complex Are Associated With Variation in Bristle Number in Drosophila melanogaster
Genetics, March 1, 2000; 154(3): 1255 - 1269.
[Abstract] [Full Text]


Home page
GeneticsHome page
A. D. Long, R. F. Lyman, C. H. Langley, and T. F. C. Mackay
Two Sites in the Delta Gene Region Contribute to Naturally Occurring Variation in Bristle Number in Drosophila melanogaster
Genetics, June 1, 1998; 149(2): 999 - 1017.
[Abstract] [Full Text] [PDF]


Home page
GeneticsHome page
J. Bergelson, E. Stahl, S. Dudek, and M. Kreitman
Genetic Variation Within and Among Populations of Arabidopsis thaliana
Genetics, March 1, 1998; 148(3): 1311 - 1323.
[Abstract] [Full Text] [PDF]