Forensic Science International: Genetics
Volume 2, Issue 2 , Pages 126-133 , March 2008

2006 GEP-ISFG collaborative exercise on mtDNA: reflections about interpretation, artefacts, and DNA mixtures

  • L. Prieto

      Affiliations

    • Comisaría General de Policía Científica, DNA Laboratory, Madrid, Spain
    • Corresponding Author InformationCorresponding author.
    • ,
  • A. Alonso

      Affiliations

    • Instituto Nacional de Toxicología y Ciencias Forenses, Departamento de Madrid, Spain
    • ,
  • C. Alves

      Affiliations

    • Instituto de Patología e Inmunología Molecular IPATIMUP, Universidade do Porto, Portugal
    • ,
  • M. Crespillo

      Affiliations

    • Instituto Nacional de Toxicología y Ciencias Forenses, Departamento de Barcelona, Spain
    • ,
  • M. Montesino

      Affiliations

    • Comisaría General de Policía Científica, DNA Laboratory, Madrid, Spain
    • ,
  • A. Picornell

      Affiliations

    • Lab. Genètica, Ins. Universitari d’Investigacions en C.C. de la Salut i Dep. de Biol., Universitat Illes Balears, Spain
    • ,
  • A. Brehm

      Affiliations

    • Laboratorio de Genética Humana, Universidade da Madeira, Portugal
    • ,
  • J.L. Ramírez

      Affiliations

    • Fundación Ins. de Estudios Avanzados, C. Biotecnología, U. Pol. Genéticos, Caracas, Venezuela
    • ,
  • M.R. Whittle

      Affiliations

    • Genomic Engenharia Molecular LTDA, Sao Paulo, Brazil
    • ,
  • M.J. Anjos

      Affiliations

    • Serviço de Genética e Biologia Forense, Inst. Nacional de Med. Legal, Delegação do Centro, Portugal
    • ,
  • I. Boschi

      Affiliations

    • Istituto di Medicina Legale e delle Assicurazioni, Università Cattolica del S. Cuore, Rome, Italy
    • ,
  • J. Buj

      Affiliations

    • Neodiagnóstica, Lleida, Spain
    • ,
  • M. Cerezo

      Affiliations

    • Unidade de Xenética, Ins. de Medicina Legal, Universidade de Santiago de Compostela, Galicia, Spain
    • ,
  • S. Cardoso

      Affiliations

    • Banco de ADN, Universidad del País Vasco, Vitoria-Gasteiz, Spain
    • ,
  • R. Cicarelli

      Affiliations

    • Laboratorio de Investigaçáo de Paternidade, Universidade Estadual Paulista – UNESP, Sao Paulo, Brazil
    • ,
  • D. Comas

      Affiliations

    • Unitat de Biologia Evolutiva, Universitat Pompeu Fabra, Barcelona, Spain
    • ,
  • D. Corach

      Affiliations

    • Servicio de Huellas Digitales Genéticas, Fac. Farmacia y Bioquímica, Universidad de Buenos Aires, Argentina
    • ,
  • C. Doutremepuich

      Affiliations

    • Laboratoire D́Hématologie, Bordeaux, France
    • ,
  • R.M. Espinheira

      Affiliations

    • Serviço de Genética e Biologia Forense, Inst. Nacional de Medicina Legal, Delegação do Sul, Portugal
    • ,
  • I. Fernández-Fernández

      Affiliations

    • DataGene, Parque Tecnológico de Derio, Bizkaia, Spain
    • ,
  • S. Filippini

      Affiliations

    • Banco Nacional de Datos Genéticos, Buenos Aires, Argentina
    • ,
  • Julia Garcia-Hirschfeld

      Affiliations

    • Instituto Nacional de Toxicología y Ciencias Forenses, Departamento de Madrid, Spain
    • ,
  • A. González

      Affiliations

    • ADF TecnoGen, Madrid, Spain
    • ,
  • B. Heinrichs

      Affiliations

    • Dirección General de la Guardia Civil, Madrid, Spain
    • ,
  • A. Hernández

      Affiliations

    • Instituto Nacional de Toxicología y Ciencias Forenses, Delegación de Canarias, La Laguna, Spain
    • ,
  • F.P.N. Leite

      Affiliations

    • Laboratorio de Pericias, Instituto Geral de Pericias, Porto Alegre, Brazil
    • ,
  • R.P. Lizarazo

      Affiliations

    • Laboratorio de DNA, Inst. Nacional de Med. Legal y C.C. Forenses, Santafé de Bogotá, Colombia
    • ,
  • A.M. López-Parra

      Affiliations

    • Departamento de Medicina Legal y Forense, Facultad de Medicina, Universidad Complutense, Madrid, Spain
    • ,
  • M. López-Soto

      Affiliations

    • Instituto Nacional de Toxicología y Ciencias Forenses, Departamento de Sevilla, Spain
    • ,
  • J.A. Lorente

      Affiliations

    • Laboratorio de Identificación Genética, Dpto. de Medicina Legal, Universidad de Granada, Spain
    • ,
  • B. Mechoso

      Affiliations

    • Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay
    • ,
  • I. Navarro

      Affiliations

    • Centro de Análisis Genéticos C.A.G.T., Zaragoza, Spain
    • ,
  • S. Pagano

      Affiliations

    • Laboratorio Biológico, Dirección Nacional de Policía Técnica, Montevideo, Uruguay
    • ,
  • J.J. Pestano

      Affiliations

    • Laboratorio de Genética, Instituto Anatómico Forense, Las Palmas, Spain
    • ,
  • J. Puente

      Affiliations

    • Laboratorio de Genética Clínica LabGenetics, Madrid, Spain
    • ,
  • E. Raimondi

      Affiliations

    • PRICAI -Fundación Favaloro, Buenos Aires, Argentina
    • ,
  • A. Rodríguez-Quesada

      Affiliations

    • Unidad de Genética Forense, Sección de Bioquímica, Dep. de Ciencias Forenses, Heredia, Costa Rica
    • ,
  • M.F. Terra-Pinheiro

      Affiliations

    • Serviço de Genética e Biologia Forense, Inst. Nacional de Med. Legal, Delegação do Norte, Portugal
    • ,
  • L. Vidal-Rioja

      Affiliations

    • Lab. de Identificación Genética, Ins. Multidisciplinario de Biol. Celular (IMBICE), La Plata, Argentina
    • ,
  • C. Vullo

      Affiliations

    • Laboratorio de Inmunogenética y Diagnostico Molecular, Córdoba, Argentina
    • ,
  • A. Salas

      Affiliations

    • Unidade de Xenética, Ins. de Medicina Legal, Universidade de Santiago de Compostela, Galicia, Spain

Received 26 July 2007 ,Revised 11 September 2007 ,Accepted 2 October 2007.

References 

  1. Gómez J, Carracedo Á. The 1999 collaborative exercises and proficiency test program on DNA typing of the Spanish and Portuguese of the International Society for Forensic Genetics (GEP-ISFH). Forensic Sci. Int. 2000;114(1):21–30
  2. Alonso A, Salas A, Albarrán C, Arroyo E, Castro A, Crespillo M, et al. Results of the 2000 collaborative exercise and proficiency testing program of mitochondrial DNA of the GEP-ISFG: an inter-laboratory study of the observed variability in the heteroplasmy level of hair from the same donor. Forensic Sci. Int. 2002;125(1):1–7
  3. Prieto L, Montesino M, Salas A, Alonso A, Albarrán C, Álvarez S, et al. The 2001 GEP–ISFG Collaborative Exercise on mtDNA: assessing the cause of unsuccessful mtDNA PCR amplification of hair shaft samples. Forensic Sci. Int. 2003;134(1):46–53
  4. Salas A, Prieto L, Montesino M, Albarrán C, Arroyo E, Paredes-Herrera MR, et al. Mitochondrial DNA error prophylaxis: assessing the causes of errors in the GEP’02–03 proficiency testing trial. Forensic Sci. Int. 2005;148(2–3):191–198
  5. Crespillo M, Paredes MR, Prieto L, Montesino M, Albarrán C, Salas A, et al. Results of the 2003–2004 GEP-ISFG collaborative study on mitochondrial DNA: focus on the mtDNA profile of a mixed semen-saliva stain. Forensic Sci. Int. 2006;169(2–3):157–167
  6. Alonso A, Martín P, Albarrán C, García P, García O, Fernández de Simón L, et al. Real-time PCR designs to estimate nuclear and mitochondrial DNA copy number in forensic and ancient DNA studies. Forensic Sci. Int. 2004;139(2–3):141–149
  7. Montesino M, Salas A, Crespillo M, Albarrán C, Alonso A, Álvarez-Iglesias V, et al. Analysis of body fluid mixtures by mtDNA sequencing: an inter-laboratory study of the GEP-ISFG working group. Forensic Sci. Int. 2007;168(1):42–56
  8. Jehaes E, Gilissen A, Cassiman JJ, Decorte R. Evaluation of a decontamination protocol for hair shafts before mtDNA sequencing. Forensic Sci. Int. 1998;94(1–2):65–71
  9. Monson KL, Miller KWP, Wilson MR, DiZinno JA, Budowle B. The mtDNA Population Database: an integrated software and database resource for forensic comparison. Forensic Sci. Commun. 2002;4:2
  10. Balding DJ, Nichols RA. DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. Forensic Sci. Int. 1994;64(2–3):125–140
  11. Salas A, Bandelt H-J, Macaulay V, Richards MB. Phylogeographic investigations: the role of trees in forensic genetics. Forensic Sci. Int. 2007;168(1):1–13
  12. Parsons TJ, Coble M. Increasing the forensic discrimination of mitochondrial DNA testing through analysis of the entire mitochondrial DNA genome. Croatian Med. J. 2001;42(3):304–309
  13. Quintáns B, Álvarez-Iglesias V, Salas A, Phillips C, Lareu MV, Carracedo Á. Typing of mitochondrial DNA coding region SNPs of forensic and anthropological interest using SNaPshot minisequencing. Forensic Sci. Int. 2004;140(2–3):251–257
  14. Brandstätter A, Salas A, Niederstätter H, Gassner C, Carracedo A, Parson W. Dissection of mitochondrial super-haplogroup H using coding region SNPs. Electrophoresis. 2006;27(13):2541–2550
  15. Álvarez-Iglesias V, Jaime JC, Carracedo Á, Salas A. Coding region mitochondrial DNA SNPs: targeting the East Asian and Native American haplogroups. Forensic Sci. Int.: Genet. 2007;1(1):44–55
  16. Parson W, Dür A. EMPOP—A forensic mtDNA database. Forensic Sci. Int.: Genet. 2007;1(2):88–92
  17. T.J. Parsons, Mitochondrial DNA Genome Sequencing and SNP Assay Development for Increased Power of Discrimination, 2006, http://www.ncjrs.gov/pdffiles1/nij/grants/213502.pdf.
  18. Bandelt H-J, Salas A, Bravi C. Problems in FBI mtDNA database. Science. 2004;305(5689):1402–1404
  19. Timken DM, Swango KL, Orrego C, Buoncristiani MR. A duplex real time qPCR assay for the quantification of human nuclear and mitochondrial DNA in forensic samples: implications for quantifying DNA in degraded samples. J. Forensic Sci. 2005;50(5):1044–1060
  20. Ingman M, Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res. 2006;34(Database Issue):D749–D751
  21. Parson W, Bandelt H-J. Extended guidelines for mtDNA typing of population data in forensic science. Forensic Sci. Int.: Genet. 2007;1(1):13–19
  22. Coble MD, Just RS, O’Callaghan JE, Letmanyi IH, Peterson CT, Irwin JA, et al. Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. Int. J. Legal Med. 2004;118(3):137–146
  23. Hellmann A, Rohleder U, Schmitter H, Wittig M. STR typing of human telogen hairs-a new approach. Int. J. Legal Med. 2001;114(4–5):269–273
  24. Salas A, Carracedo Á, Macaulay V, Richards M, Bandelt H-J. A practical guide to mitochondrial DNA error prevention in clinical, forensic, and population genetics. Biochem. Biophys. Res. Commun. 2005;335(3):891–899
  25. Bandelt H-J, Salas A, Lutz-Bonengel S. Artificial recombination in forensic mtDNA population databases. Int. J. Legal Med. 2004;118(5):267–273
  26. Tully G, Bar W, Brinkmann B, Carracedo Á, Gill P, Morling N, et al. Considerations by the European DNA profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochondrial DNA profiles. Forensic Sci. Int. 2001;124(1):83–91
  27. Bandelt H-J, Salas A, Bravi CM. What is a ‘novel’ mtDNA mutation—and does ‘novelty’ really matter?. J. Hum. Genet. 2006;51(12):1073–1082
  28. H.-J. Bandelt, Y.-G. Yao, A. Salas, The search of ‘novel’ mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor, Int. J. Cardiol., 2007, doi:10.1016/j.ijcard.2007.02.049.
  29. Richards M, Macaulay V, Hickey E, Vega E, Sykes B, Guida V, et al. Tracing European founder lineages in the Near Eastern mtDNA pool. Am. J. Hum. Genet. 2000;67(5):1251–1276
  30. Finnilä S, Lehtonen MS, Majamaa K. Phylogenetic network of European mtDNA. Am. J. Hum. Genet. 2001;68(6):1475–1484
  31. Bandelt H-J, Herrnstadt C, Yao Y-G, Kong Q-P, Kivisild T, Rengo T, et al. Identification of Native American founder mtDNAs through the analysis of complete mtDNA sequences: some caveats. Ann. Hum. Genet. 2003;67(Pt 6):512–524
  32. Kong Q-P, Bandelt H-J, Sun C, Yao Y-G, Salas A, Achilli A, et al. Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum. Mol. Genet. 2006;15(13):2076–2086
  33. Salas A, Richards M, De la Fé T, Lareu MV, Sobrino B, Sánchez-Diz P, et al. The making of the African mtDNA landscape. Am. J. Hum. Genet. 2002;71(5):1082–1111
  34. Torroni A, Achilli A, Macaulay V, Richards M, Bandelt H-J. Harvesting the fruit of the human mtDNA tree. Trends Genet. 2006;22(6):339–345
  35. Bandelt H-J, Quintana-Murci L, Salas A, Macaulay V. The fingerprint of phantom mutations in mitochondrial DNA data. Am. J. Hum. Genet. 2002;71(5):1150–1160
  36. Malyarchuk BA, Rogozin IB, Berikov VB, Derenko MV. Analysis of phylogenetically reconstructed mutational spectra in human mitochondrial DNA control region. Hum. Genet. 2002;111(1):46–53
  37. Bandelt H-J, Kong QP, Richards M, Macaulay V. Estimation of mutation rates and coalescence times: some caveats. In:  Bandelt H-J,  Macaulay V,  Richards M editor. Human Mitochondrial DNA and the Evolution of Homo sapiens. Berlin-Heidelberg: Springer-Verlag Press; 2006;p. 227–268

PII: S1872-4973(07)00173-1

doi: 10.1016/j.fsigen.2007.10.010

Forensic Science International: Genetics
Volume 2, Issue 2 , Pages 126-133 , March 2008

Article Tools