title: High-quality mtDNA control region sequences from 680 individuals sampled across the Netherlands to establish a national forensic mtDNA reference database.
abstract: 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.
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Chaitanya
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.
authors.forename: Mannis
authors.initials: M
authors.lastname: van Oven
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands; Department of Human Biological Traces, Netherlands Forensic Institute, The Hague, The Netherlands.
authors.forename: Silke
authors.initials: S
authors.lastname: Brauer
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Bettina
authors.initials: B
authors.lastname: Zimmermann
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Huber
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Catarina
authors.initials: C
authors.lastname: Xavier
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Forensic Science Program, The Pennsylvania State University, University Park, PA, USA.
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.affiliation: Forensic Laboratory for DNA Research, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Peter
authors.initials: P
authors.lastname: de Knijff
authors.affiliation: Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands. Electronic address: m.kayser@erasmusmc.nl.
authors.forename: Manfred
authors.initials: M
authors.lastname: Kayser
mesh_terms: D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics*; D030541:Databases, Genetic; D030561:Databases, Nucleic Acid; D053803:Forensic Genetics / Q000379:methods*; D005828:Genetics, Population / Q000379:methods; D006239:Haplotypes; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D009426:Netherlands; D016133:Polymerase Chain Reaction / Q000379:methods; D012015:Reference Standards; D017422:Sequence Analysis, DNA / Q000592:standards
chemical_list: D017931:DNA Primers; D004272:DNA, Mitochondrial
keywords: Control region; EMPOP; Forensic database; Haplogroups; Sequencing; mtDNA