, Volume 122, Issue 3, pp 199-204
Date: 20 Oct 2007

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

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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%).

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.