International Journal of Legal Medicine

, Volume 122, Issue 3, pp 199–204

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

  • Chiara Turchi
  • Loredana Buscemi
  • Carlo Previderè
  • Pierangela Grignani
  • Anita Brandstätter
  • Alessandro Achilli
  • Walther Parson
  • Adriano Tagliabracci
  • Ge.F.I. Group
Original Article

DOI: 10.1007/s00414-007-0207-1

Cite this article as:
Turchi, C., Buscemi, L., Previderè, C. et al. Int J Legal Med (2008) 122: 199. doi:10.1007/s00414-007-0207-1

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%).

Keywords

Collaborative exercise MtDNA Control region Coding region Italian database Forensic 

Supplementary material

414_2007_207_MOESM1_ESM.doc (30 kb)
Table S1Different 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).
414_2007_207_MOESM2_ESM.doc (40 kb)
Table S2Type and number of discrepancies observed in the eight individual laboratories after EMPOP evaluation (DOC 40.5 kb).
414_2007_207_MOESM3_ESM.doc (480 kb)
Table S3mtDNA 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).
414_2007_207_MOESM4_ESM.doc (70 kb)
Table S4Comparison 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).

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Chiara Turchi
    • 1
  • Loredana Buscemi
    • 1
  • Carlo Previderè
    • 2
  • Pierangela Grignani
    • 2
  • Anita Brandstätter
    • 3
  • Alessandro Achilli
    • 4
  • Walther Parson
    • 3
  • Adriano Tagliabracci
    • 1
  • Ge.F.I. Group
  1. 1.Department of Neuroscience, Section of Legal MedicineUniversità Politecnica delle MarcheAnconaItaly
  2. 2.Department of Legal Medicine and Public HealthUniversity of PaviaPaviaItaly
  3. 3.Institute of Legal MedicineInnsbruck Medical UniversityInnsbruckAustria
  4. 4.Department of Genetic and MicrobiologyUniversity of PaviaPaviaItaly

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