TY - JOUR
T1 - mtGenome reference population databases and the future of forensic mtDNA analysis
AU - Irwin, Jodi A.
AU - Parson, Walther
AU - Coble, Michael D.
AU - Just, Rebecca S.
PY - 2011/6
Y1 - 2011/6
N2 - Mitochondrial DNA (mtDNA) testing in the forensic context requires appropriate, high quality population databases for estimating the rarity of questioned haplotypes. Currently, however, available forensic mtDNA reference databases only include information from the mtDNA control region. While this information is obviously strengthening the foundation upon which current mtDNA identification efforts are based, these data do not adequately prepare the field for recent and rapid advancements in mtDNA typing technologies. Novel tools that quickly and easily permit access to mtDNA coding region data for increased discrimination are now available in the form of single nucleotide polymorphism assays, sequence specific oligonucleotide probes, mass spectrometry instrumentation and next generation sequencing technologies. However, the randomly sampled entire mtGenome reference population data required for statistical interpretation of coding region data are lacking. As a result, in the near future, it seems that routine use of mtDNA coding region data in forensic case work will depend more upon the availability of high-quality entire mtGenome population reference data than the ease with which coding region data can be generated from evidence specimens. Until mtGenome reference databases are available, the utility of novel mtDNA typing technologies and the benefits of recovering mtDNA coding region information from forensic specimens will be limited. Thus, future mtDNA databasing efforts are needed for the development of entire mtDNA genome reference population data suitable for forensic comparisons.
AB - Mitochondrial DNA (mtDNA) testing in the forensic context requires appropriate, high quality population databases for estimating the rarity of questioned haplotypes. Currently, however, available forensic mtDNA reference databases only include information from the mtDNA control region. While this information is obviously strengthening the foundation upon which current mtDNA identification efforts are based, these data do not adequately prepare the field for recent and rapid advancements in mtDNA typing technologies. Novel tools that quickly and easily permit access to mtDNA coding region data for increased discrimination are now available in the form of single nucleotide polymorphism assays, sequence specific oligonucleotide probes, mass spectrometry instrumentation and next generation sequencing technologies. However, the randomly sampled entire mtGenome reference population data required for statistical interpretation of coding region data are lacking. As a result, in the near future, it seems that routine use of mtDNA coding region data in forensic case work will depend more upon the availability of high-quality entire mtGenome population reference data than the ease with which coding region data can be generated from evidence specimens. Until mtGenome reference databases are available, the utility of novel mtDNA typing technologies and the benefits of recovering mtDNA coding region information from forensic specimens will be limited. Thus, future mtDNA databasing efforts are needed for the development of entire mtDNA genome reference population data suitable for forensic comparisons.
KW - Coding region
KW - Database
KW - Mitochondrial DNA
UR - http://www.scopus.com/inward/record.url?scp=79953867044&partnerID=8YFLogxK
U2 - 10.1016/j.fsigen.2010.02.008
DO - 10.1016/j.fsigen.2010.02.008
M3 - Article
C2 - 20457096
AN - SCOPUS:79953867044
SN - 1872-4973
VL - 5
SP - 222
EP - 225
JO - Forensic Science International: Genetics
JF - Forensic Science International: Genetics
IS - 3
ER -