FORENSICS AND MITOCHONDRIAL DNA: Applications, Debates, and Foundations

• Published in: Annual review of genomics and human genetics 2003-01, Vol.4 (1), p.119-141
• Main Authors: Budowle, Bruce, Allard, Marc W, Wilson, Mark R, Chakraborty, Ranajit
• Format: Article
• Language: English
• Subjects: Database Management Systems; DNA, Mitochondrial - genetics; Forensic Sciences; Genetics, Population; Genomic Imprinting; heteroplasmy; Humans; nomenclature; paternal inheritance; population data; recombination; Recombination, Genetic; Terminology as Topic
• ISSN: 1527-8204; 1545-293X
• DOI: 10.1146/annurev.genom.4.070802.110352

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.