Forensics and Mitochondrial DNA: Applications, Debates, and Foundations

Abstract

Debate on the validity and reliability of scientific methods often arises in the courtroom. When the government (i.e., the prosecution) is the proponent of evidence, the defense is obliged to challenge its admissibility. Regardless, those who seek to use DNA typing methodologies to analyze forensic biological evidence have a responsibility to understand the technology and its applications so a proper foundation(s) for its use can be laid. Mitochondrial DNA (mtDNA), an extranuclear genome, has certain features that make it desirable for forensics, namely, high copy number, lack of recombination, and matrilineal inheritance. mtDNA typing has become routine in forensic biology and is used to analyze old bones, teeth, hair shafts, and other biological samples where nuclear DNA content is low. To evaluate results obtained by sequencing the two hypervariable regions of the control region of the human mtDNA genome, one must consider the genetically related issues of nomenclature, reference population databases, heteroplasmy, paternal leakage, recombination, and, of course, interpretation of results. We describe the approaches, the impact some issues may have on interpretation of mtDNA analyses, and some issues raised in the courtroom.

Low volume amplification and sequencing of mitochondrial DNA on a chemically structured chip

“…Therefore, alternative techniques need to be applied. For instance, deficiency cases can be solved by sequence analysis of the mitochondrial control region or by analysis of Y-chromosome and X-chromosome specific STRs [4,7,19,26,27]. If only highly degraded DNA is available for analysis, typing of single nucleotide polymorphisms (SNPs) can be the method of choice [24].…”

Recent advances in the applications of CE to forensic sciences (2001–2004)

“…Mitochondrial DNA has undoubtedly acquired a very relevant role in forensic identification, as witnessed by many publications in the forensic science literature, among which we may mention the reviews by Budowle et al [111] and by Isenberg [112]. Also for this purpose, CE, particularly in the multicapillary arrangements, is among the most widespread analytical tools [113][114][115][116].…”

Sequence polymorphisms of the mtDNA control region in a human isolate: the Georgians from Swanetia

“…When forensic cases arise where there is insufficient biological material for nuclear DNA typing, mtDNA analysis can provide valuable supplemental information, even from such limited samples as 0.5-cm-long hair fragments or single teeth. Because of its usefulness when limited biological material is available, and due to its unique pattern of maternal inheritance, mtDNA plays a key role in personal identity testing (Budowle et al 2003).…”