DNA mixtures: biostatistics for mixed stains with haplotypic genetic markers

Abstract

The conventional theory for interpreting forensic DNA evidence developed for the autosomal genetic markers is not applicable in the case of haplotypic markers, specifically for Y-STR based data. The reason is, that in contrast to the case of autosomal markers, single alleles found in the mixed stain cannot be assigned to unknown stain contributors independently of each other, while the assignable entities are sets of linked alleles which should be treated as non-separable units. It is shown that the conventional theory cannot be extended to this situation. A novel theory which accounts for the features of haplotypic markers has been developed within the general framework of the hypotheses testing approach. This theory opens the way for the use of haplotypic markers in the analysis of mixed stains with the arbitrary numbers of unknown contributors and linked loci. A numerical example demonstrates the application of the theory.