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1.
Forensic Sci Res ; 4(4): 341-347, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32002493

RESUMO

In forensic entomology, insects are used mainly to obtain information about the time since death. This information is obtained studying the developmental rate of the first colonizers, principally species in the families Calliphoridae, Sarcophagidae, Muscidae, Stratiomyidae and Phoridae. However, species belonging to other families can provide information about body transfer or the season of the death. Among them Milichiidae are flies rarely reported from human cases despite the larvae of some species are known as saprophagous feeding on plant and animal decomposing matter. A potential cause of the lack of records of these species from forensic cases can be related with the paucity of descriptions and illustrations of the immature stages. In this article, the entomological samples collected from a human body found inside an apartment in a Maghreb country, in Northern Africa, is reported and Leptometopa latipes (Diptera: Milichiidae) is described in detail. Molecular analysis is also reported to confirm the morphological analysis.

2.
Int J Legal Med ; 131(5): 1211-1219, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28391405

RESUMO

BACKGROUND: Acute thoracic aortic dissections and ruptures, the main life-threatening complications of the corresponding aneurysms, are an important cause of sudden cardiac death. Despite the usefulness of the molecular diagnosis of these conditions in the clinical setting, the corresponding forensic field remains largely unexplored. The main goal of this study was to explore and validate a new massive parallel sequencing candidate gene​ assay as a diagnostic tool for acute thoracic aortic dissection autopsy cases. MATERIALS AND METHODS: Massive parallel sequencing of 22 thoracic aortic disease candidate genes performed in 17 cases of thoracic aortic dissection using AmpliSeq and Ion Proton technologies. Genetic variants were filtered by location, type, and frequency at the Exome Aggregation Consortium and an internal database and further classified based on the American College of Medical Genetics and Genomics (ACMG) recommendations published in 2015. All prioritized results were confirmed by traditional sequencing. RESULTS: From the total of 10 potentially pathogenic genetic variants identified in 7 out of the 17 initial samples, 2 of them were further classified as pathogenic, 2 as likely pathogenic, 1 as possibly benign, and the remaining 5 as variants of uncertain significance, reaching a molecular autopsy yield of 23%, approximately. CONCLUSIONS: This massive parallel sequencing candidate gene approach proved useful for the molecular autopsy of aortic dissection sudden cardiac death cases and should therefore be progressively incorporated into the forensic field, being especially beneficial for the anticipated diagnosis and risk stratification of any other family member at risk of developing the same condition.


Assuntos
Aneurisma da Aorta Torácica/genética , Dissecção Aórtica/genética , Morte Súbita Cardíaca/etiologia , Genética Forense , Testes Genéticos/normas , Predisposição Genética para Doença , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos
3.
Forensic Sci Int Genet ; 23: 50-54, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27017109

RESUMO

Here we analyse a complex disputed paternity case, where the DNA of the putative father was extracted from his corpse that had been inhumed for over 20 years. This DNA was contaminated and appears to be a mixture of at least two individuals. Furthermore, the mother's DNA was not available. The DNA mixture was analysed so as to predict the most probable genotypes of each contributor. The major contributor's profile was then used to compute the likelihood ratio for paternity. We also show how to take into account a dropout allele and the possibility of mutation in paternity testing.


Assuntos
Contaminação por DNA , DNA/genética , Paternidade , Osso e Ossos/química , Humanos , Funções Verossimilhança , Masculino
4.
Forensic Sci Int Genet ; 11: 137-43, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24727431

RESUMO

The correct identification of the biological samples under analysis is crucial in forensic investigation in that it represents the pivotal issue attesting that the resulting genetic profiles are fully reliable in terms of weight of the evidence. The study reported herein shows that "touch DNA" secondary transfer is indeed possible from person to person and, in turn, from person to object depending on the specific sebaceous or non-sebaceous skin area previously touched. In addition, we demonstrate the presence of fragmented single stranded DNA specifically immunodetected in the vast majority of cells forming the sebaceous gland but not in the epidermis layers, strongly indicating that sebaceous fluid represents an important vector responsible for DNA transfer. In view of our results, forensic investigations need to take into account that the propensity to leave behind genetic material through contact could depend from the individual ability to shed sebaceous fluid on the skin surface.


Assuntos
Impressões Digitais de DNA , Pele/metabolismo , Humanos
6.
Methods Mol Biol ; 830: 3-16, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22139649

RESUMO

This chapter presents a brief introduction to the historical development of current technologies used in DNA analysis for human identification. The text describes the development of the PCR and short tandem repeats along with subsequent advances in instrumentation such as real-time PCR and capillary electrophoresis. These techniques have brought about a revolution in DNA typing methods through increased efficiency and the application of multiplex fluorescence detection. More recently the development of new STR based typing methods utilizing mini- and Y-STR PCR multiplexes has increased the flexibility of the investigator, permitting the analysis of inhibited and degraded DNA. Future directions for DNA typing are also discussed, including the development of methods for touch samples based on low copy DNA analysis and the determination of tissue/cell type.


Assuntos
Impressões Digitais de DNA/métodos , Impressões Digitais de DNA/tendências , Antropologia Forense/métodos , Antropologia Forense/tendências , Antropologia Forense/história , Loci Gênicos/genética , História do Século XX , Humanos , Repetições de Microssatélites/genética
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