Comparison of VNTR Allele Frequencies and Inclusion Probabilities over Six Populations
Allele frequency, Genetic polymorphism, Tandem repeat, Genotype frequency, Population data
There is considerable debate about the methodologies used to estimate VNTR (Variable Number of Tandem Repeats) multi-locus genotype frequencies or odds of inclusion in forensic cases. To compare two of the methods in use, allele frequency distributions among six populations were compared and the effect of population heterogeneity on VNTR multi-locus genotype frequency estimation was examined. Genotype frequencies estimated from single population data were one or two orders of magnitude smaller than those estimated by picking the highest allele frequency in a group of subpopulations to estimate genotype frequencies using a ceiling principle. The average change does not appear to be very sensitive to the set of subpopulations used; four locus frequencies still give inclusion odds of one in a million or less. We think that use of the ceiling principle solves both the statistical problem engendered by subpopulation heterogeneity and the legal problem of assuming that the prepetrator and suspect belong to the same subpopulation. The counterintuitive fact of human genetic polymorphism is that it is easier to identify an individual than it is to identify the subpopulation, ethnic group or race to which that individual belongs.
Duncan, George; K. Noppinger; J. Carey; and M. Tracey. 1993. "Comparison of VNTR Allele Frequencies and Inclusion Probabilities over Six Populations." Genetica 88, (): 51-57. doi:10.1007/BF02424451.