Archiver > GENEALOGY-DNA > 2008-11 > 1227189293

Subject: [DNA] PubMed abstract: mtDNA in Italy
Date: Thu, 20 Nov 2008 08:54:53 EST

Int J Legal Med. 2008 May;122(3):199-204. Epub 2007 Oct 20.

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

Turchi C, Buscemi L, Previderè C, Grignani P, Brandstätter A, Achilli A,
Parson W, Tagliabracci A; Ge.F.I. Group.

Collaborators: Alú M, Beduschi G, Bini C, Boschi I, Carnevali E, Gino S,
Giunti L, Lancia M, Pascali V, Pelotti S, Presciuttini S, Ricci U, Robino C.

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

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%).

Publication Types:
Multicenter Study
Research Support, Non-U.S. Gov't

PMID: 17952451 [PubMed - indexed for MEDLINE]

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