Development and use and mtDNA databases (Rebecca Just, Armed Forces DNA Identification Laboratory)

To address the need for high-quality mtDNA sequence data in forensics, the Armed Forces DNA Identification Laboratory (AFDIL, Rockville, MD, USA) has sequenced greater than 15,000 entire mtDNA control regions and 500 entire mtDNA genomes over the past 8 years. Sample processing utilizes protocols optimized for high quality samples, and is performed in an automated, high-throughput, 96-well format from extraction through sequence detection. Robust and reliable sequence data is assured by redundant sequence coverage, particularly in regions prone to length heteroplasmy, and through additional safeguards in data analysis and data transfer. The data is made publically available through publication, and through submission to GenBank and EMPOP, the EDNAP mtDNA population database.

Materials

AFDIL policy prohibits the publishing of presentations

Criticism of mtDNA databases

Bandelt et al. The fingerprint of phantom mutations in mitochondrial DNA data. Am. J. Hum. Genet. 2002;71:1150-1160.

Bandelt, Salas and Lutz-Bonengel Artificial recombination in forensic mtDNA population databases. Int. J. Leg. Med. 2004;118:267-273.

FA Kaestle, RA Kittles, AL Roth, EJ Ungvarsky. Database limitations on the evidentiary value of forensic mitochondrial DNA evidence. American Criminal Law Review. 2006;43:53-87.

Current mtDNA database development

Brandstätter et al. Mitochondrial DNA control region sequences from Nairobi (Kenya): inferring phylogenetic parameters for the establishment of a forensic database. Int. J. Legal Med. 2004;118(5):294-306.

Brandstätter et al. Generating population data for the EMPOP database—An overview of the mtDNA sequencing and data evaluation processes considering 273 Austrian control region sequences as example. Forensic Sci. Int. 2006;166:164-175.

JA Irwin, JL Saunier, KM Strouss, KA Sturk, TM Diegoli, RS Just, MD Coble, W Parson, TJ Parsons. Development and expansion of high-quality control region databases to improve forensic mtDNA evidence interpretation. Forensic Science International: Genetics. 2007;1:154-157.

RS Just, JA Irwin, JE O’Callaghan, JL Saunier, MD Coble, PM Vallone, JM Butler, SM Barritt, TJ Parsons. Toward increased utility of mtDNA in forensic identifications. Forensic Science International. 2004;146S:S147-S149.

W Parson, HJ Bandelt. Extended guidelines for mtDNA typing of population data in forensic science. Forensic Science International: Genetics. 2007;1:13-19.

W Parson, Arne Dur. EMPOP—A forensic mtDNA database. Forensic Science International: Genetics. 2007;1:88-92.

mtDNA mutation rates

Parsons et al. A high observed substitution rate in the human mitochondrial DNA control region. Nat. Genet. 1997;15:363-368.

Heyer et al. Phylogenetic and familial estimates of mitochondrial substitution rates: study of control region mutations in deep-rooting pedigrees. Am. J. Hum. Genet. 2001;69:1113-1126.

Howell et al. The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree studies. Am. J. Hum. Genet. 2003;72:659-670.