mtGenome reference population databases and the future of forensic mtDNA analysis

Jodi A. Irwin, Walther Parson, Michael Dewitt Coble, Rebecca S. Just

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)222-225
Number of pages4
JournalForensic Science International: Genetics
Volume5
Issue number3
DOIs
StatePublished - 1 Jun 2011

Fingerprint

Mitochondrial DNA
Databases
Population
DNA Fingerprinting
Technology
Statistical Data Interpretation
Mitochondrial Genome
Oligonucleotide Probes
Nucleic Acid Databases
Haplotypes
Single Nucleotide Polymorphism
Mass Spectrometry

Keywords

  • Coding region
  • Database
  • Mitochondrial DNA

Cite this

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abstract = "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.",
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mtGenome reference population databases and the future of forensic mtDNA analysis. / Irwin, Jodi A.; Parson, Walther; Coble, Michael Dewitt; Just, Rebecca S.

In: Forensic Science International: Genetics, Vol. 5, No. 3, 01.06.2011, p. 222-225.

Research output: Contribution to journalArticle

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