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Artificial recombination in forensic mtDNA population databases

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Abstract

Artificial recombination of two or more mitochondrial DNA fragments from different samples would constitute a serious cause of error in forensic DNA typing, and yet one can demonstrate that such events have happened in the preparation of several published mtDNA databases. Focussed database searches, phylogenetic analysis, and network representations can highlight mosaic patterns and thus pinpoint sample mix-up. Therefore, we suggest that this approach should be applied to data prior to publication in order to uncover such errors in time.

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References

  • Alves-Silva J, Silva Santos M da, Guimarães PE, Ferreira AC, Bandelt H-J, Pena SD, Prado VF (2000) The ancestry of Brazilian mtDNA lineages. Am J Hum Genet 67:444–461, 775 (erratum)

    Article  CAS  PubMed  Google Scholar 

  • Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23:147

    Article  CAS  PubMed  Google Scholar 

  • Banaschak S, Witting C, Brinkmann B (1999) Präparateverwechslungen: Ursachen, Auswirkung, Prävention. Pathologe 20:155–158

    Article  CAS  PubMed  Google Scholar 

  • Bandelt H-J (2004) Exploring reticulate patterns in DNA sequence data. In: Bakker FT, Chatrou LW, Gravendeel B, Pelser PB (eds) Plant species-level systematics: new perspectives on pattern & process. Regnum Vegetabile 142, Koeltz, Königstein, in press

  • Bandelt H-J, Macaulay V, Richards M (2000) Median networks: speedy construction and greedy reduction, one simulation, and two case studies from human mtDNA. Mol Phylogenet Evol 16:8–28

    Article  CAS  PubMed  Google Scholar 

  • Bandelt H-J, Lahermo P, Richards M, Macaulay V (2001) Detecting errors in mtDNA data by phylogenetic analysis. Int J Legal Med 115:64–69

    Article  CAS  PubMed  Google Scholar 

  • Bandelt H-J, Herrnstadt C, Yao Y-G et al. (2003) Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann Hum Genet 67:512–524

    Article  CAS  PubMed  Google Scholar 

  • Budowle B, Allard MW, Fisher CL et al. (2002) HVI and HVII mitochondrial DNA data in Apaches and Navajos. Int J Legal Med 116:212–215

    PubMed  Google Scholar 

  • Budowle B, Allard MW, Wilson MR, Chakraborty R (2003) Forensics and mitochondrial DNA: applications, debates, and foundations. Annu Rev Genomics Hum Genet 4:119–141

    Article  CAS  PubMed  Google Scholar 

  • Cali F, Le Roux MG, D’Anna R et al. (2001) MtDNA control region and RFLP data for Sicily and France. Int J Legal Med 114:229–231

    Article  CAS  PubMed  Google Scholar 

  • Comas D, Calafell F, Mateu E et al. (1998) Trading genes along the silk road: mtDNA sequences and the origin of Central Asian populations. Am J Hum Genet 63:1824–1838

    Article  CAS  PubMed  Google Scholar 

  • Crespillo M, Luque JA, Paredes M, Fernández R, Ramírez E, Valverde JL (2000) Mitochondrial DNA sequences for 118 individuals from northeastern Spain. Int J Legal Med 114:130–132

    Article  CAS  PubMed  Google Scholar 

  • Dimo-Simonin N, Grange F, Taroni F, Brandt-Casadevall C, Mangin P (2000) Forensic evaluation of mtDNA in a population from south west Switzerland. Int J Legal Med 113:89–97

    CAS  PubMed  Google Scholar 

  • Finnilä S, Lehtonen MS, Majamaa K (2001) Phylogenetic network for European mtDNA. Am J Hum Genet 68:1475–1484

    Article  PubMed  Google Scholar 

  • Graven L, Passarino G, Semino O, Boursot P, Santachiara-Benerecetti S, Langaney A, Excoffier L (1995) Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample. Mol Biol Evol 12:334–345

    CAS  PubMed  Google Scholar 

  • 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 (erratum)

    Google Scholar 

  • Imaizumi K, Parsons TJ, Yoshino M, Holland MM (2002) A new database of mitochondrial DNA hypervariable regions I and II sequences from 162 Japanese individuals. Int J Legal Med 116:68–73

    Article  CAS  PubMed  Google Scholar 

  • Ingman M, Kaessmann H, Pääbo S, Gyllensten U (2000) Mitochondrial genome variation and the origin of modern humans. Nature 408:708–713

    Article  CAS  PubMed  Google Scholar 

  • Kivisild T, Tolk H-V, Parik J, Wang Y, Papiha SS, Bandelt H-J, Villems R (2002) The emerging limbs and twigs of the East Asian mtDNA tree. Mol Biol Evol 19:1737–1751

    CAS  PubMed  Google Scholar 

  • Kong Q-P, Yao Y-G, Liu M et al. (2003a) Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China. Hum Genet 113:391–405

    Article  CAS  PubMed  Google Scholar 

  • Kong Q-P, Yao Y-G, Sun C, Bandelt H-J, Zhu C-L, Zhang Y-P (2003b) Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences. Am J Hum Genet 73:671–676

    Article  CAS  PubMed  Google Scholar 

  • Lee SD, Shin CH, Kim KB, Lee YS, Lee JB (1997) Sequence variation of mitochondrial DNA control region in Koreans. Forensic Sci Int 87:99–116

    Article  CAS  PubMed  Google Scholar 

  • Lee SD, Lee YS, Lee JB (2002) Polymorphism in the mitochondrial cytochrome B gene in Koreans. An additional marker for individual identification. Int J Legal Med 116:74–78

    Article  PubMed  Google Scholar 

  • Lutz-Bonengel S, Schmidt U, Schmitt T, Pollak S (2003) Sequence polymorphisms within the human mitochondrial genes MTATP6, MTATP8 and MTND4. Int J Legal Med 117:133–142

    PubMed  Google Scholar 

  • Malyarchuk BA, Grzybowski T, Derenko MV, Czarny J, Woźniak M, Miścicka-Śliwka D (2002) Mitochondrial DNA variability in Poles and Russians. Ann Hum Genet 66:261–283

    Article  CAS  PubMed  Google Scholar 

  • Maruyama S, Minaguchi K, Saitou N (2003) Sequence polymorphisms of the mitochondrial DNA control region and phylogenetic analysis of mtDNA lineages in the Japanese population. Int J Legal Med 117:218–225

    Article  PubMed  Google Scholar 

  • Miller KWP, Budowle B (2001) A compendium of human mitochondrial DNA control region: development of an international standard forensic database. Croat Med J 42:315–327

    CAS  PubMed  Google Scholar 

  • Mishmar D, Ruiz-Pesini E, Golik P et al. (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A 100:171–176

    Article  CAS  PubMed  Google Scholar 

  • Monson KL, Miller KWP, Wilson MR, DiZinno JA, Budowle B (2002) The mtDNA population database: an integrated software and database resource for forensic comparison. Forensic Sci Comm 4, #2

    Google Scholar 

  • Parson W, Brandstätter A, Pircher M, Steinlechner M, Scheithauer R (2004) EMPOP—the EDNAP mtDNA population database-concept for a new generation, high-quality mtDNA database. Proceedings of the 20th International Congress of the International Society for Forensic Genetics, International Congress Series 1261, Forensic Genetics 10:106–108

  • Pfeiffer H, Steighner R, Fisher R, Mörnstad H, Yoon C-L, Holland MM (1998) Mitochondrial DNA extraction and typing from isolated dentin-experimental evaluation in a Korean population. Int J Legal Med 111:309–313

    Article  CAS  PubMed  Google Scholar 

  • Piercy R, Sullivan KM, Benson N, Gill P (1993) The application of mitochondrial DNA typing to the study of white caucasian genetic identification. Int J Legal Med 106:85–90

    CAS  PubMed  Google Scholar 

  • Poetsch M, Wittig H, Krause D, Lignitz E (2003) Mitochondrial diversity of a northeast German population sample. Forensic Sci Int 137:125–132

    Article  CAS  PubMed  Google Scholar 

  • Reidla M, Kivisild T, Metspalu E et al. (2003) Origin and diffusion of mtDNA haplogroup X. Am J Hum Genet 73:1178–1190

    Article  CAS  PubMed  Google Scholar 

  • Richards M, Macaulay V, Hickey E et al. (2000) Tracing European founder lineages in the Near Eastern mtDNA pool. Am J Hum Genet 67:1251–1276

    CAS  PubMed  Google Scholar 

  • Salas A, Richards M, De la Fé T et al. (2002) The making of the African mtDNA landscape. Am J Hum Genet 71:1082–1111

    Article  CAS  PubMed  Google Scholar 

  • Silva WA Jr, Bonatto SL, Holanda AJ et al. (2002) Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. Am J Hum Genet 71:187–192

    Article  CAS  PubMed  Google Scholar 

  • Tagliabracci A, Turchi C, Buscemi L, Sassaroli C (2001) Polymorphism of the mitochondrial DNA control region in Italians. Int J Legal Med 114:224–228

    Article  CAS  PubMed  Google Scholar 

  • Torroni A, Rengo C, Guida V et al. (2001) Do the four clades of the mtDNA haplogroup L2 evolve at different rates? Am J Hum Genet 69:1348–1356

    Article  CAS  PubMed  Google Scholar 

  • Watson E, Forster P, Richards M, Bandelt H-J (1997) Mitochondrial footprints of human expansions in Africa. Am J Hum Genet 61:691–704

    CAS  PubMed  Google Scholar 

  • Yao Y-G, Kong Q-P, Bandelt H-J, Kivisild T, Zhang Y-P (2002) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70:635–651

    Article  CAS  PubMed  Google Scholar 

  • Yao Y-G, Macaulay V, Kivisild T, Zhang Y-P, Bandelt H-J (2003) To trust or not to trust an idiosyncratic mitochondrial data set. Am J Hum Genet 72:1341–1346

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We thank Francesco Calì, Valentino Romano, and Peter Forster for sequence information and Claudio Bravi for database searches.

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Authors and Affiliations

  1. Fachbereich Mathematik, Universität Hamburg, Bundesstrasse 55, 20146 , Hamburg, Germany

    H.-J. Bandelt

  2. Unidad de Genética Instituto de Medicina Legal, Facultad de Medicina, c/San Francisco s/n, 15705 , Santiago de Compostela, A Coruña, Galicia, Spain

    A. Salas

  3. Institut für Rechtsmedizin, Klinikum der Universität Freiburg, Albertstrasse 9, 79104 , Freiburg, Germany

    S. Lutz-Bonengel

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  1. H.-J. Bandelt
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  2. A. Salas
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  3. S. Lutz-Bonengel
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Correspondence to H.-J. Bandelt.

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Bandelt, HJ., Salas, A. & Lutz-Bonengel, S. Artificial recombination in forensic mtDNA population databases. Int J Legal Med 118, 267–273 (2004). https://doi.org/10.1007/s00414-004-0455-2

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  • DOI: https://doi.org/10.1007/s00414-004-0455-2

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