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%).

A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population

“…The frequency of alleles in the track p303-309 in our sample was similar to the frequencies reported in other populations. 39,[44][45][46][47][48] The deletion of two adenines in the poly-A track at positions p286-291 was always linked with the deletion of one adenine at position p248-249 and this combination was found in 17.1% of the individuals examined, whereas the remaining individuals (82.9%) had six adenines in the first and two adenines in the last positions similar to the rCSR. A deletion of six nucleotides from position 106 to 111, which has been described earlier in the Chibchan Amerindian population, 49 was found in four individuals.…”

Homogeneity in mitochondrial DNA control region sequences in Swedish subpopulations

“…Haplogroup frequencies were used in order to compare the Swedish population with other worldwide populations [27][28][29][30][31][32][33][34][35]. Due to differences in haplogroup resolution for the reference populations, we reassigned (collapsed) the haplogroup status both for our data and for the populations to be compared making them into comparable data sets.…”

Phylogenetic classification of Japanese mtDNA assisted by complete mitochondrial DNA sequences

“…In the phylogenetic analysis, the haplogroup motif and private mutations were confirmed by sequencing of additional PCR products and checking against our own previously established database [5] and databases reported by others [10], even when there was little doubt as regards to their accuracy [5,10]. Control sequence data have been submitted to the EMPOP database (www.empop.org) [27,28].…”