This study field-tested newer technologies that could provide a more effective means for the identification of human remains and missing persons than those currently being used.
The testing concluded that the Affymetrix GeneChip Human Mitochondrial Resequencing Array 2.0 has the potential to increase significantly the utility of current mitochondrial DNA (mtDNA) testing for human identification and forensic casework. The GeneChip could streamline the labor-intensive process of mtDNA sequencing currently used. The GeneChip generates sequence information for the entire mitochondrial genome and therefore provides much more information than the 610 bases of the control region routinely sequenced in casework today. Data from the entire mitochondrial genome is valuable in differentiating a significant portion of individuals with common haplotypes. The Affymetrix GeneChip Human Mitochondrial Resequencing Array 2.0 requires significant optimization before it can be considered for casework, however. Neither of the tested assays--the Applied Biosystems mitoSEQ Resequencing Systems and the Affymetrix GeneChip Human Mitochondrial Resequencing Array 2.0--is appropriate at this time for use on degraded or limited DNA samples. One possible way to address this issue is the potential for the development of smaller amplicon primer sets with both kit manufacturers. The availability of a large pool of both family reference samples and skeletal remains that have STR data for the core CODIS loci and sequences data for the HV1 and HV2 regions of the MtDNA genome facilitated the testing. This testing was conducted because current mtDNA and STR technologies are often insufficient to provide the level of statistical certainty required for a positive identification. 15 tables, 17 figures, and 24 references