High-quality mtDNA control region sequences from 680 individuals sampled across the Netherlands to establish a national forensic mtDNA reference database

Chaitanya,L.;vanOven,M.;Brauer,S.;Zimmermann,B.;Huber,G.;Xavier,C.;Parson,W.;deKnijff,P.;Kayser,M.;
The use of mitochondrial DNA (mtDNA) for maternal lineage identification often marks the last resort when investigating forensic and missing-person cases involving highly degraded biological materials. As with all comparative DNA testing, a match between evidence and reference sample requires a statistical interpretation, for which high-quality mtDNA population frequency data are crucial. Here, we determined, under high quality standards, the complete mtDNA control-region sequences of 680 individuals from across the Netherlands sampled at 54 sites, covering the entire country with 10 geographic sub-regions. The complete mtDNA control region (nucleotide positions 16,024-16,569 and 1-576) was amplified with two PCR primers and sequenced with ten different sequencing primers using the EMPOP protocol. Haplotype diversity of the entire sample set was very high at 99.63% and, accordingly, the random-match probability was 0.37%. No population substructure within the Netherlands was detected with our dataset. Phylogenetic analyses were performed to determine mtDNA haplogroups. Inclusion of these high-quality data in the EMPOP database (accession number: EMP00666) will improve its overall data content and geographic coverage in the interest of all EMPOP users worldwide. Moreover, this dataset will serve as (the start of) a national reference database for mtDNA applications in forensic and missing person casework in the Netherlands. (C) 2015 Elsevier Ireland Ltd. All rights reserved.
Forensic Science International-Genetics 2016 21:158-167
Tags: mtdna; control region; empop; forensic database; sequencing; haplogroups; human mitochondrial-DNA; population-data; international society; extended guidelines; amplification; heteroplasmy; commission; lineages; genetics; EMPOP;
PubMed: 26774101
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