engleski

Population Substructure can Significantly Affect Reliability of a DNA-lead Process of Identification of Mass Fatality Victims

Aiming to evaluate effects of population substructure on the reliability of a DNA correspondence in the process of human identification, we used model of "in silico" constructed populations with and without substructure. Effects of population substructure were evaluated at the level of locus heterozygosity, Hardy-Weinberg equilibrium, and mini-haplotype distribution. Inbreeding in a subpopulation of 100 individuals through 10 generations did not significantly alter level of heterozygosity, and Hardy-Weinberg equilibrium. However, analysis of mini-haplotype distribution revealed significant homogenization in separated subpopulations. Average observed mini-haplotype frequency (fo) increased to threefold from expected values (fe), and the number of mini-haplotypes with fo/fe above 10 increased over six-fold, suggesting that effects of population substructure on calculated likelihood ratios might be larger than previously estimated. In most criminal cases this would not represent a problem, but for identifications in large-scale mass fatality events, population substructure might considerably increase the risk of false identification.

forensic science; human identification; DNA typing; STR loci; population substructure; inbreeding; mini-haplotypes

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