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Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification

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Abstract

Sequence variation of the hypervariable segments (HVS) I/II of mitochondrial DNA (mtDNA) and the haplogroup affiliation were determined in a sample of 271 Italian subjects. This analysis showed that 42% of the individuals could be ascribed to H, the most frequent haplogroup in European Caucasian populations. This fraction was then screened for specific single nucleotide polymorphisms located in the coding region to identify H subclades H1–H15. We set up two multiplex polymerase chain reactions and specific SNaPshot assays to investigate the frequency distribution of these subgroups in our population sample and to examine their usefulness in discriminating among commonly shared HVS I/II sequences. This allowed the assignment of a large portion of the mtDNAs (∼70%) to specific subhaplogroups, with H1 and H5 being the most represented. About two-thirds of the individuals sharing common HVS I/II sequences were subdivided and ascribed to specific H subhaplogroups with a significant reduction of the frequencies of the most common mtDNA haplotypes. Haplogroup H subtyping could thus be extremely useful in forensic identification when many samples have to be analysed and compared, avoiding excessive time-consuming and labor-intensive sequencing analysis.

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Acknowledgements

The authors thank Antonio Torroni (University of Pavia, Italy) and Chris Tyler-Smith (Sanger Institute, UK) for their helpful suggestions and critical reading of the manuscript.

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Authors and Affiliations

  1. Dipartimento di Medicina Legale e Sanità Pubblica, Università di Pavia, Pavia, Italy

    P. Grignani, G. Peloso & C. Previderè

  2. Dipartimento di Genetica e Microbiologia, Università di Pavia, Pavia, Italy

    A. Achilli

  3. Dipartimento di Neuroscienze, Sezione di Medicina Legale, Università Politecnica delle Marche, Ancona, Italy

    C. Turchi & A. Tagliabracci

  4. Dipartimento integrato di Servizi Diagnostici e di Laboratorio e di, Medicina legale-Università di Modena e Reggio Emilia, Modena, Italy

    M. Alù & G. Beduschi

  5. Azienda Ospedaliero-Universitaria “A.Meyer” U.O. Genetica Medica, Florence, Italy

    U. Ricci & L. Giunti

  6. Dipartimento di Anatomia, Farmacologia e Medicina Legale, Università di Torino, Torino, Italy

    C. Robino & S. Gino

Authors
  1. P. Grignani
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  2. G. Peloso
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  3. A. Achilli
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  4. C. Turchi
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  5. A. Tagliabracci
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  6. M. Alù
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  7. G. Beduschi
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  8. U. Ricci
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  9. L. Giunti
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  10. C. Robino
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  11. S. Gino
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  12. C. Previderè
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Correspondence to C. Previderè.

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Grignani, P., Peloso, G., Achilli, A. et al. Subtyping mtDNA haplogroup H by SNaPshot minisequencing and its application in forensic individual identification. Int J Legal Med 120, 151–156 (2006). https://doi.org/10.1007/s00414-005-0059-5

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  • DOI: https://doi.org/10.1007/s00414-005-0059-5

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