TY - JOUR
T1 - Italian mitochondrial DNA database
T2 - Results of a collaborative exercise and proficiency testing
AU - Turchi, Chiara
AU - Buscemi, Loredana
AU - Previderè, Carlo
AU - Grignani, Pierangela
AU - Brandstätter, Anita
AU - Achilli, Alessandro
AU - Parson, Walther
AU - Tagliabracci, Adriano
AU - Alù, Milena
AU - Beduschi, Giovanni
AU - Bini, Carla
AU - Boschi, Ilaria
AU - Carnevali, Eugenia
AU - Gino, Sarah
AU - Giunti, Laura
AU - Lancia, Massimo
AU - Pascali, Vincenzo
AU - Pelotti, Susi
AU - Presciuttini, Silvano
AU - Ricci, Ugo
AU - Robino, Carlo
N1 - Funding Information:
This study was supported by a grant from the Ministero per l’Istruzione, l’Universita` e la Ricerca (MIUR) (grant no. 2005064329_002).
PY - 2008/5
Y1 - 2008/5
N2 - 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%).
AB - 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%).
KW - Coding region
KW - Collaborative exercise
KW - Control region
KW - Forensic
KW - Italian database
KW - MtDNA
UR - http://www.scopus.com/inward/record.url?scp=42149146086&partnerID=8YFLogxK
U2 - 10.1007/s00414-007-0207-1
DO - 10.1007/s00414-007-0207-1
M3 - Article
SN - 0937-9827
VL - 122
SP - 199
EP - 204
JO - International Journal of Legal Medicine
JF - International Journal of Legal Medicine
IS - 3
ER -