title: Italian mitochondrial DNA database: results of a collaborative exercise and proficiency testing.
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/ not7025 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%).
authors.affiliation: Department of Neuroscience, Section of Legal Medicine, Università Politecnica delle Marche, 60020 Ancona, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Turchi
authors.forename: Loredana
authors.initials: L
authors.lastname: Buscemi
authors.forename: Carlo
authors.initials: C
authors.lastname: Previderè
authors.forename: Pierangela
authors.initials: P
authors.lastname: Grignani
authors.forename: Anita
authors.initials: A
authors.lastname: Brandstätter
authors.forename: Alessandro
authors.initials: A
authors.lastname: Achilli
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.forename: Adriano
authors.initials: A
authors.lastname: Tagliabracci
mesh_terms: D019411:Clinical Laboratory Techniques / Q000592:standards; D022801:Complementarity Determining Regions / Q000235:genetics*; D016172:DNA Fingerprinting / Q000592:standards; D004272:DNA, Mitochondrial / Q000235:genetics*; D030541:Databases, Genetic; D005260:Female; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D011786:Quality Control; D017422:Sequence Analysis, DNA
chemical_list: D022801:Complementarity Determining Regions; D004272:DNA, Mitochondrial