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/¬7025 AluI-was shared by 20 subjects. The majority of mtDNAs detected in the Italian population fell into the most common wes

The population genetic structure of Y chromosomes in 1338 Italians

A collaborative study was carried out by the Italian ISFG Working Group in order to improve the data on Y-STR mutations at the loci mostly used in forensic analysis, following recommendations of the ISFG DNA Commission. The knowledge on Y-STR mutation rates needs to be considered in the paternity probabilities, especially in deficiency cases of disputed paternity involving male offspring where the alleged father is not available for DNA analysis. Furthermore, the mutation rate represents a precious tool to estimate the local and temporal origin of a given Y-SNP based haplogroup. The sample consisted of 433 father/son pairs from paternity cases in 15 different laboratories from Italy. The biological relationship of all father/son pairs was previously confirmed by using autosomal microsatellites. The laboratories used AmpFlSTR YFiler kit (AB) and PowerPlex Y System (Promega); DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, GATA C4, and GATA H4.1 data were collected. The participants were also asked to provide the age of the biological father and, if possible, male descendants beyond the first generation. 20 mutations were observed among all of the allele transfers in the sample (19 single step and 1 double step), and mutations in the same father/son pair were found in three cases. Locus-specific mutation rates were calculated. Forensic implication of the average age of the father as well as the number of locus deletions and amplifications were discussed

RACCOMANDAZIONI IN TEMA DI REPERTAMENTO DI TRACCE BIOLOGICHE PER LE ANALISI DI GENETICA FORENSE NEL PERCORSO CLINICO-ASSISTENZIALE IN CASO DI VIOLENZA SESSUALE E/O MALTRATTAMENTO

Raccomandazioni per il repertamento di materiale biologico a fini forensi in casi di violenza di genere