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Populationsgenetische mitochondriale DNA-Daten

Forensische und medizinische Nutzung

Population genetics mitochondrial DNA data

Forensic and medical use

Zusammenfassung

Der populationsgenetische Aspekt der Nutzung mitochondrialer DNA in der Forensik und medizinischen Genetik bezieht sich implizit auf die gesamte Datengrundlage und die mtDNA-Phylogenie, von der in Hinblick auf die zu untersuchenden Fragestellungen gezielt Teile ausgesondert werden. Wir heben besonders jene Aspekte hervor, die in der Vergangenheit bei vielen Untersuchungen nicht adäquat berücksichtigt wurden.

Abstract

The population genetics aspect of using mitochondrial DNA (mtDNA) in forensic and medical genetics implicitly concerns the entire database and mtDNA phylogeny, from which parts are targeted according to the questions to be dealt with. We emphasize those aspects that were not adequately considered in many previous studies.

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Literatur

  1. 1.

    Bandelt H-J, Parson W (2004) Fehlerquellen mitochondrialer DNS-Datensätze und Evaluation der mtDNS-Datenbank D-Loop-BASE. Rechtsmedizin 14: 251–257

    Article  Google Scholar 

  2. 2.

    Bandelt H-J, Dür A (2007) Translating DNA data tables into quasi-median networks for parsimony analysis and error detection. Mol Phylogen Evol 42: 256–271

    Article  CAS  Google Scholar 

  3. 3.

    Bandelt H-J, Parson W (2008) Consistent treatment of length variants in the human mtDNA control region: a reappraisal. Int J Legal Med 122: 11–21

    PubMed  Article  Google Scholar 

  4. 4.

    Bandelt H-J, Macaulay V, Richards M (eds) (2006) Human mitochondrial DNA and the evolution of Homo sapiens. Springer, Berlin Heidelberg New York

  5. 5.

    Bandelt H-J, Salas A, Bravi CM (2006) What is a „novel“ mtDNA mutation – and does „novelty“ really matter? J Hum Genet 51: 1073–1082

    Google Scholar 

  6. 6.

    Bandelt H-J, Yao Y-G, Salas A et al. (2007) High penetrance of sequencing errors and interpretative shortcomings in mtDNA sequence analysis of LHON patients. Biochem Biophys Res Commun 352: 283–291

    PubMed  Article  CAS  Google Scholar 

  7. 7.

    Bandelt H-J, Salas A, Taylor RW, Yao Y-G (2008) The exaggerated status of „novel“ and „pathogenic“ mtDNA sequence variants due to inadequate database searches. Hum Mutat in press

  8. 8.

    Brandstätter A, Klein R, Dür A et al. (2006) Application of a quasi-median network analysis for the visualization of character conflicts to a population sample of mitochondrial DNA control region sequences from southern Germany (Ulm). Int J Legal Med 120: 310–314

    PubMed  Article  Google Scholar 

  9. 9.

    Brandstätter A, Niederstätter H, Pavlic M et al. (2007) 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 166: 164–175

    PubMed  Article  CAS  Google Scholar 

  10. 10.

    Chinnery PF (2006) Mitochondrial disorders overview. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.mt-overview

  11. 11.

    Choi B-O, JH Hwang, J Kim et al. (2008) A MELAS syndrome family harboring two mutations in mitochondrial genome. Exp Mol Med 40: 354–360

    PubMed  CAS  Article  Google Scholar 

  12. 12.

    Eichmann C, Parson W (2008) „Mitominis“: multiplex PCR analysis of reduced size amplicons for compound sequence analysis of the entire mtDNA control region in highly degraded samples. Int J Legal Med, Mar 28. [Epub ahead of print], doi: 10.1007/s00414-008-0227-5

  13. 13.

    Herrnstadt C, Elson JL, Fahy E et al. (2002) Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. Am J Hum Genet 70: 1152–1171, 71: 448–449

    Google Scholar 

  14. 14.

    Hudson G, Carelli V, Spruijt L et al. (2007) Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet 81: 228–233

    PubMed  Article  CAS  Google Scholar 

  15. 15.

    Hudson G, Chinnery PF (2006) Mitochondrial DNA polymerase-γ and human disease. Hum Mol Genet 15: R244–R252

    PubMed  Article  CAS  Google Scholar 

  16. 16.

    Kattmann U (1999) Warum und mit welcher Wirkung klassifizieren Wissenschaftler Menschen? In: Kaupen-Haas H, Saller C (Hrsg) Wissenschaftlicher Rassismus: Analysen einer Kontinuität in den Human- und Naturwissenschaften. Campus, Frankfurt New York, S 65–83

  17. 17.

    McFarland R, Elson JL, Taylor RW et al. (2004) Assigning pathogenicity to mitochondrial tRNA mutations: when „definitely maybe“ is not good enough. Trends Genet 20: 591–596

    PubMed  Article  CAS  Google Scholar 

  18. 18.

    Parson W, Brandstätter A, Niederstätter H et al. (2007) Unravelling the mystery of Nanga Parbat. Int J Legal Med 121: 309–310

    PubMed  Article  Google Scholar 

  19. 19.

    Parson W, Dür A (2007) EMPOP – a forensic mtDNA database. Forensic Sci Int Genet 1: 88–92

    Article  PubMed  Google Scholar 

  20. 20.

    Salas A, Bandelt H-J, Macaulay V et al. (2006) Phylogeographic investigations: the role of trees in forensic genetics. Forensic Sci Int 168: 1–13

    PubMed  Article  CAS  Google Scholar 

  21. 21.

    Salas A, Carracedo Á, Macaulay V et al. (2005) A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem Biophys Res Commun 335: 891–899

    PubMed  Article  CAS  Google Scholar 

  22. 22.

    Salas A, Yao Y-G, Macaulay V et al. (2005) A critical reassessment of the role of mitochondria in tumorigenesis. PLoS Med 2: 296

    Article  CAS  Google Scholar 

  23. 23.

    Turchi C, Buscemi L, Previderè C et al. (2008) Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing. Int J Legal Med 122: 199–204

    PubMed  Article  Google Scholar 

  24. 24.

    Varlamov DA, Kudin AP, Vielhaber S et al. (2002) Metablic consequences of a novel missense mutation of the mtDNA CO I gene. Hum Mol Genet 11: 1797–1805

    PubMed  Article  CAS  Google Scholar 

  25. 25.

    Yao Y-G, Salas A, Bravi CM et al. (2006) A reappraisal of complete mtDNA variation in East Asian families with hearing impairment. Hum Genet 119: 505–515

    PubMed  Article  CAS  Google Scholar 

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Danksagung

Wir danken Claudio Bravi für den Hinweis auf die Arbeit von Choi et al. [11].

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

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Correspondence to H.-J Bandelt.

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Bandelt, HJ., Parson, W. Populationsgenetische mitochondriale DNA-Daten. medgen 20, 302 (2008). https://doi.org/10.1007/s11825-008-0118-7

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Schlüsselwörter

  • Mitochondrien
  • Mitochondriale DNA (mtDNA)
  • mtDNA-Phylogenie
  • Haplogruppe
  • Pathogene Mutation

Keywords

  • Mitochondria
  • Mitochondrial DNA (mtDNA)
  • mtDNA phylogeny
  • Haplogroup
  • Pathogenic Mutation