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      Mitochondrial DNA control region analysis of three ethnic groups in the Republic of Macedonia

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          Abstract

          A total of 444 individuals representing three ethnic groups (Albanians, Turks and Romanies) in the Republic of Macedonia were sequenced in the mitochondrial control region. The mtDNA haplogroup composition differed between the three groups. Our results showed relatively high frequencies of haplogroup H12 in Albanians (8.8%) and less in Turks (3.3%), while haplogroups M5a1 and H7a1a were dominant in Romanies (13.7% and 10.3%, respectively) but rare in the former two. This highlights the importance of regional sampling for forensic mtDNA databasing purposes. These population data will be available on EMPOP under accession numbers EMP00644 (Albanians), EMP00645 (Romanies) and EMP00646 (Turks).

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          EMPOP--a forensic mtDNA database.

          Arne Dür, Walther Parson (2007)
          Mitochondrial DNA databases stand as the basis for frequency estimations of mtDNA sequences that became relevant in a case. The establishment of mtDNA databases sounds trivial; however, it has been shown in the past that this undertaking is prone to error for several reasons, particularly human error. We have established a concept for mtDNA data generation, analysis, transfer and quality control that meets forensic standards. Due to the complexity of mtDNA population data tables it is often difficult if not impossible to detect errors, especially for the untrained eye. We developed software based on quasi-median network analysis that visualizes mtDNA data tables and thus signposts sequencing, interpretation and transcription errors. The mtDNA data (N=5173; release 1) are stored and made publicly available via the Internet in the form of the EDNAP mtDNA Population Database, short EMPOP. This website also facilitates quasi-median network analysis and provides results that can be used to check the quality of mtDNA sequence data. EMPOP has been launched on 16 October 2006 and is since then available at http://www.empop.org.
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            Extended guidelines for mtDNA typing of population data in forensic science.

            Hans-Jürgen Bandelt, Walther Parson (2007)
            Mitochondrial DNA analysis has become a vital niche in forensic science as it constitutes a powerful technique for low quality and low quantity DNA samples. For the forensic field it is important to employ standardized procedures based on scientific grounds, in order to have mtDNA evidence be accepted in court. Here, we modify and extend recommendations that were spelled out previously in the absence of solid knowledge about the worldwide phylogeny. Refinement of those earlier guidelines became necessary in regard to sample selection, amplification and sequencing strategies, as well as a posteriori quality control of mtDNA profiles. The notation of sequence data should thus reflect this growing knowledge.
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              Consistent treatment of length variants in the human mtDNA control region: a reappraisal.

              Hans-Jürgen Bandelt, W Parson (2007)
              In forensic science, as well as in molecular anthropology and medical genetics, human mitochondrial DNA (mtDNA) variation is being recorded by aligning mtDNA sequences to the revised Cambridge reference sequence (rCRS). This task is straightforward for the vast majority of nucleotide positions but appears to be difficult for some short sequence stretches, namely, in regions displaying length variation. Earlier guidelines for imposing a unique alignment relied on binary alignment to a standard sequence (the rCRS) and used additional priority rules for resolving ambiguities. It turns out, however, that these rules have not been applied rigorously and led to inconsistent nomenclature. There is no way to adapt the priority rules in a reasonable way because binary alignment to a standard sequence is bound to produce artificial alignments that may place sequences separated by a single mutation at mismatch distance larger than 1. To remedy the situation, we propose a phylogenetic approach for multiple alignment and resulting notation.
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                Author and article information

                Contributors
                Walther Parson
                Journal
                Journal ID (nlm-ta): Forensic Sci Int Genet
                Journal ID (iso-abbrev): Forensic Sci Int Genet
                Title: Forensic Science International. Genetics
                Publisher: Elsevier
                ISSN (Print): 1872-4973
                ISSN (Electronic): 1878-0326
                Publication date PMC-release: 1 November 2014
                Publication date (Print): November 2014
                Volume: 13
                Pages: 1-2
                Affiliations
                [a ]Institute of Forensic Medicine, Criminalistic and Medical Deontology, Medical Faculty, University “Ss. Cyril and Methodius”, Skopje, Macedonia
                [b ]Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria
                [c ]Penn State Eberly College of Science, University Park, PA, USA
                Author notes
                [* ]Corresponding author at: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria. Tel.: +43 512 9003 70651; fax: +43 512 9003 73640. walther.parson@ 123456i-med.ac.at
                Article
                Publisher ID: S1872-4973(14)00131-8
                DOI: 10.1016/j.fsigen.2014.06.013
                PMC ID: 4234079
                PubMed ID: 25051224
                SO-VID: d13b3dd9-dfb3-4106-96bc-2db9f21927d3
                Copyright © © 2014 The Authors
                History
                Date received : 9 May 2014
                Date revision received : 21 June 2014
                Date accepted : 23 June 2014
                Categories
                Subject: Short Communication

                ScienceOpen disciplines: Forensic science
                Keywords: mtdna,empop,haplogroups,albanians,turks,romanies
                Data availability:
                ScienceOpen disciplines: Forensic science
                Keywords: mtdna, empop, haplogroups, albanians, turks, romanies

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