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Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing

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Abstract

This work is a review of a collaborative exercise on mtDNA analysis undertaken by the Italian working group (Ge.F.I.). A total of 593 samples from 11 forensic genetic laboratories were subjected to hypervariable region (HVS-I/HVS-II) sequence analysis. The raw lane data were sent to MtDNA Population Database (EMPOP) for an independent evaluation. For the inclusion of data for the Italian database, quality assurance procedures were applied to the control region profiles. Only eight laboratories with a final population sample of 395 subjects passed the quality conformance test. Control region haplogroup (hg) assignments were confirmed by restriction fragment length polymorphism (RFLP) typing of the most common European hg-diagnostic sites. A total of 306 unique haplotypes derived from the combined analysis of control and coding region polymorphisms were found; the most common haplotype —CRS, 263, 309.1C, 315.1C/¬7025 AluI– was shared by 20 subjects. The majority of mtDNAs detected in the Italian population fell into the most common west Eurasian hgs: R0a (0.76%), HV (4.81%), H (38.99%), HV0 (3.55%), J (7.85%), T (13.42%), U (11.65%), K (10.13%), I (1.52%), X (2.78%), and W (1.01%).

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Acknowledgments

This study was supported by a grant from the Ministero per l’Istruzione, l’Universita` e la Ricerca (MIUR) (grant no. 2005064329_002).

Author information

Authors and Affiliations

  1. Department of Neuroscience, Section of Legal Medicine, Università Politecnica delle Marche, 60020, Ancona, Italy

    Chiara Turchi, Loredana Buscemi & Adriano Tagliabracci

  2. Department of Legal Medicine and Public Health, University of Pavia, Pavia, Italy

    Carlo Previderè & Pierangela Grignani

  3. Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria

    Anita Brandstätter & Walther Parson

  4. Department of Genetic and Microbiology, University of Pavia, Pavia, Italy

    Alessandro Achilli

Authors
  1. Chiara Turchi
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  2. Loredana Buscemi
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  3. Carlo Previderè
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  4. Pierangela Grignani
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  5. Anita Brandstätter
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  6. Alessandro Achilli
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  7. Walther Parson
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  8. Adriano Tagliabracci
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Ge.F.I. Group

Corresponding author

Correspondence to Adriano Tagliabracci.

Additional information

Ge.F.I. Group: Milena Alù, University of Modena and Reggio Emilia, Modena; Giovanni Beduschi, University of Modena and Reggio Emilia, Modena; Carla Bini, University of Bologna, Bologna; Ilaria Boschi, Catholic University Rome, Rome; Eugenia Carnevali, University of Perugia, Terni; Sarah Gino, University of Torino, Torino; Laura Giunti, University of Florence, Florence; Massimo Lancia, University of Perugia, Terni; Vincenzo Pascali, Catholic University Rome, Rome; Susi Pelotti, University of Bologna, Bologna; Silvano Presciuttini, University of Pisa, Pisa; Ugo Ricci, University of Florence, Florence; Carlo Robino, University of Torino, Torino.

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Table S1

Different methods for DNA extraction and quantification, PCR amplification, and sequencing used by the 11 participating laboratories in the Ge.F.I. mtDNA collaborative exercise (DOC 29.5 kb).

Table S2

Type and number of discrepancies observed in the eight individual laboratories after EMPOP evaluation (DOC 40.5 kb).

Table S3

mtDNA haplotypes: hg assignment by combination of coding and control region polymorphisms in 395 individuals in north-central Italy. (HG Haplogroup). The name of the samples contain three pieces of information: identifier of Italian country (I or IT) and city (AN Ancona, BO or BN Bologna, FI Firenze; MO Modena, PV Pavia, RO or UCR Roma, TO Torino, TR Terni) and individual counter. CRS Cambridge Reference Sequence. The differences from the CRS are transitions unless otherwise stated. Mutations in boldtype are diagnostic of the hg/subhaplogroup. Hgs are arranged by phylogenetic order (DOC 480 kb).

Table S4

Comparison between hg classification by control region nucleotide variations and after RFLP analysis of the coding region. The coincident hg assignments using the two different approaches are in boldtype (DOC 70 kb).

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Turchi, C., Buscemi, L., Previderè, C. et al. Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing. Int J Legal Med 122, 199–204 (2008). https://doi.org/10.1007/s00414-007-0207-1

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