1,721,058 research outputs found
Strategy for STR typing of bones from the Second World War combining CE and NGS technology: A pilot study
No full textThe genetic identification of skeletal remains found in Second World War mass graves is complicated because of the poor quality of the samples. The aim of this study was to set up a workflow for STR typing of such samples combining PCR/CE and PCR/NGS technologies. To this end, 57 DNA samples from an equal number of 75-year-old femurs were studied. After a first round of PCR typing using GlobalFiler CE, 42 samples yielded a full profile and were therefore submitted to our standard workflow. The 15 samples that yielded no or a limited number (2–17/21) of autosomal STR markers as well four bone control samples that provided a full profile with the conventional PCR/CE test were typed in duplicate by the GlobalFiler NGS kit. Despite the degradation of the samples, which resulted in lower coverage and a lower % of on-target reads, reliable sequencing data were obtained from 16/19 samples. The use of a threshold of 30× for the locus call led to a consensus profile (cp) of 20–31/31 STR autosomal loci in 10 samples and to a cp of 8–10/31 loci in two samples, whereas the four control samples yielded a cp of 26–31/31 loci. Finally, the data from the NGS typing were combined with those from the CE typing. This last task allowed us to recover (on average) three alleles per sample and to increase the number of the heterozygous patterns in 37 cases. In total, the combined approach proposed here made possible the genetic typing of 65–100% of the autosomal STR markers in 10/15 (66.6 %) skeletal remains that yielded no or very poor results with the conventional PCR/CE approach. However, because several artefacts (such as allelic drop-out and allelic drop-in) were scored, the risk of mistyping cannot be neglected
La complessità in genetica-forense: l'analisi di DNA in limitata quantità (Low Copy Number DNA) e l'interpretazione di tracce commiste
No full textLo sviluppo, negli ultimi venticinque anni, delle metodiche di PCR (Polymerase Chain Reaction) consente di analizzare, virtualmente, ogni traccia biologica, anche se di minime dimensioni. Tuttavia, poiché la PCR è una metodica che può causare artefatti, permangono moltissimi problemi su come interpretare i profili genetici ottenuti da limitate quantità di DNA (Low Copy Number DNA - LCN-DNA) e quelli originati da tracce commiste. Se anche, infatti, sono stati sviluppati e validati numerosi softwares che permettono l’interpretazione di tali profili, non vi è una condivisione a livello scientifico internazionale circa il metodo migliore da usare.
ABSTRACT
The improvement, in the last twenty-five years, of PCR (Polymerase Chain Reaction)-based methods allows the analysis of virtually any biological stain, even if minimal.
However, since PCR can originate artifacts, there are still several concerns about the interpretation of genetic profiles obtained from limited amounts of DNA (Low Copy Number -LCN) and from mixed stains. Although several softwares have been developed and validated, there is not yet an international agreement about the best approach to deal with the interpretation of this kind of complex profiles
DNA fingerprint analysis for the detection of induced mutations in mammalian cells culture
No full text
La prova del DNA per la ricerca della verità, Aspetti giuridici, biologici e statistici
No full textLa prova del DNA per la ricerca della verità. Aspetti giuridici, biologici e probabilistici
No full textCasistica ortopedica dell'osservatorio GISDI, Medical Maslpractice Daily (www.malpracticedaily.org)
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