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Browsing INMLCF - Artigos Científicos by Field of Science and Technology (FOS) "Ciências Médicas::Outras Ciências Médicas"
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- Human identification with combined anthropologic and genetic tools: two case reports in forensic medicine practicePublication . Amorim, António; Afonso Costa, Heloísa; Espinheira, Rosa; Costa, Rosa; Cunha, Eugénia; Costa Santos, JorgeThe identification of skeletonized corpses or skeletal remains, in forensic medicine practice, as well as being an imperative to human rights respect, has particular relevance and significance in psycho-social terms. If, on one hand, the Universal Declaration of Human Rights advises identification before all body inhumations, on the other hand, returning the identity to an unidentified corpse and subsequent return of the corpse to his family is, itself, the instrument which will allow for the possibility of beginning the family grieving. Forensic anthropology is the first approach towards the identification of unknown skeletonized corpses, which may lead to positive identification of the body or, sometimes, cannot go further than establish some pointers that will lead to further attempt to genetic identification. Here we report two cases of two dead bodies, unidentified, that were presented to the National Institute of Legal Medicine (INML), with instructions, from the prosecutors, to be determined possible cause and circumstances of death and achieve to individual identification. Forensic anthropology, allowed, in both cases, some indications that pointed to alleged missing individuals. Genetic study of skeletonized bodies and family members of the alleged missing individuals has turned possible, in one case, the positive identification. For one of the corpses, most likely due to the weather conditions to which he was exposed for a very considerable period, it was not possible to achieve to positive identification. However, in the latter case, we believe that the use of mitochondrial DNA study may help to settle the case with positive identification of the corps.
- mRNA profiling and donor association of mock casework samples: Results of a 3rd and 4th EDNAP collaborative exercisePublication . Hänggi, Nadescha Viviane; Amorim, António; Afonso Costa, Heloísa; Andersen, Jeppe Dyrberg; Kampmann, Marie-Louise; Courts, Cornelius; Neis, Maximilian; Syndercombe-Court, Denise; Giangasparo, Federica; Fonneløp, Ane Elida; Johannessen, Helen; Hadrys, Thorsten; Fürst, Angelika; Parson, Walther; Niederstätter, Harald; Sidstedt, Maja; Aili Fagerholm, Siri; Sijen, Titia; van den Berge, Margreet; Hanson, Erin; Ballantyne, Jack; Haas, CordulaSimultaneous identification and association of body fluids to donors can serve as a powerful tool in the criminal investigation of mixed traces. Massively parallel sequencing of mRNA targets not only identifies the origin of the body fluids but may also provide additional contextual information about the body fluid donors of a (binary) mixture using coding region SNPs (cSNPs). Within the European DNA Profiling Group (EDNAP), two consecutive collaborative exercises (3rd and 4th EDNAP exercise) were organized, with the objective to evaluate the performance of two previously published high-resolution mRNA sequencing assays. In the 3rd EDNAP exercise, the BFID-cSNP-BSS assay (cSNPs for blood, saliva, and semen) was evaluated, while in the 4th EDNAP exercise, the BFID-cSNP-6F assay (cSNPs for six fluids/tissues, including blood, saliva, semen, vaginal secretion, menstrual blood, and skin) was tested. Each RNA cSNP assay was accompanied by a genomic DNA assay for the genotyping of the cSNPs in the individual(s) or body fluid donor(s) of interest. A total of 11 laboratories participated in one or both collaborative exercises. In each exercise, the participating laboratories received a set of 16 standardized mock case stains for analysis and were encouraged to analyze additional, self-prepared stains and reference samples. Laboratories could participate using either the Ion Torrent S5™ or the Illumina MiSeq™ sequencing system. The results of the 16 mock case stains were very encouraging in both exercises, as body fluid components could be reliably identified for most of the stains. Since successful donor association depends on the number of body fluid markers covered in the sequencing results, we found that for stains consisting of blood, menstrual blood, vaginal secretion or a mixture thereof, the cSNPs provided substantial genetic discriminatory information for successful association of the respective body fluid to its donor. In mixtures, the difficulty in interpreting the cSNP genotypes might be attributed to the masking effect of the other body fluid(s) present. Body fluid identification and donor association of skin samples proved to be a significant challenge. In conclusion, body fluid identification and donor association using the BFID-cSNP-BSS and -6 F assays is a promising and effective method across laboratories and sequencing platforms.