ABSTRACT
Polymerase chain reaction (PCR) based genetic analysis has revolutionized the practice of forensics since the rst application of the HLA-DQA1 test in the Pennsylvania vs Pestinikis case in 1986 (Blake et al. 1992). In recent years, the focus of forensics genetic analysis has been primarily on length polymorphisms, panels of short tandem repeat (STR) markers and, to some extent, on sequence polymorphism of the mitochondrial (mt) DNA hypervariable regions (HVI and II) (Butler 2004; Holland and Parsons 1999; Sullivan, Hopgood, and Gill 1992; Just et al. 2004). e STR markers have been analyzed by capillary electrophoresis and the mtDNA HVI and HVII sequence markers by dideoxy chain termination Sanger sequencing or by various probe-based methods, such as the Linear Array (Melton et al. 2005; Gabriel et al. 2003; Divne et al. 2005; Roberts and Calloway 2007; Chong et al. 2005). Recently, novel technologies and new genetic markers have been developed that promise to have a signicant impact on the future of forensic genetic analysis. In this chapter, we discuss two of these new developments: (1) the expansion of the mtDNA linear array technology to include informative polymorphisms throughout the whole ~16kb mitochondrial genome and (2) next-generation sequencing (NGS) technologies that can provide a single high-throughput platform for sequence and tandem repeat polymorphisms and, because of the clonal sequencing property of NGS, a digital readout for analyzing forensics mixtures.
