EVOLUTIONARY RELATIONSHIP OF DNA SEQUENCES IN FINITE POPULATIONS

TLDR

The study develops a mathematical theory to analyze DNA polymorphism data and predict the expected evolutionary relationships among DNA sequences under mutation and random genetic drift. Using this theory, the authors examine the statistical distribution of nucleotide differences and heterozygosity among randomly chosen nucleons. They find that estimates of average nucleotide differences and nucleon diversity exhibit high variance driven largely by stochastic effects, so larger sample sizes offer little improvement, yet a small number of samples suffices to characterize allele frequency distributions.

Abstract

ABSTRACT With the aim of analyzing and interpreting data on DNA polymorphism obtained by DNA sequencing or restriction enzyme technique, a mathematical theory on the expected evolutionary relationship among DNA sequences (nucleons) sampled is developed under the assumption that the evolutionary change of nucleons is determined solely by mutation and random genetic drift. The statistical property of the number of nucleotide differences between randomly chosen nucleons and that of heterozygosity or nucleon diversity is investigated using this theory. These studies indicate that the estimates of the average number of nucleotide differences and nucleon diversity have a large variance, and a large part of this variance is due to stochastic factors. Therefore, increasing sample size does not help reduce the variance significantly. The distribution of sample allele (nucleomorph) frequencies is also studied, and it is shown that a small number of samples are sufficient in order to know the distribution pattern