TY - JOUR
T1 - Forensics and Mitochondrial DNA
T2 - Applications, Debates, and Foundations
AU - Budowle, Bruce
AU - Allard, Marc W.
AU - Wilson, Mark R.
AU - Chakraborty, Ranajit
PY - 2003
Y1 - 2003
N2 - 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.
AB - 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.
KW - Heteroplasmy
KW - Nomenclature
KW - Paternal inheritance
KW - Population data
KW - Recombination
UR - http://www.scopus.com/inward/record.url?scp=0242693327&partnerID=8YFLogxK
U2 - 10.1146/annurev.genom.4.070802.110352
DO - 10.1146/annurev.genom.4.070802.110352
M3 - Review article
C2 - 14527299
AN - SCOPUS:0242693327
SN - 1527-8204
VL - 4
SP - 119
EP - 141
JO - Annual Review of Genomics and Human Genetics
JF - Annual Review of Genomics and Human Genetics
ER -