About DNA databasing and investigative genetic analysis of externally visible characteristics: A public survey.

During the last decade, DNA profiling and the use of DNA databases have become two of the most employed instruments of police investigations. This very rapid establishment of forensic genetics is yet far from being complete. In the last few years novel types of analyses have been presented to describe phenotypically a possible perpetrator. We conducted the present study among German speaking Swiss residents for two main reasons: firstly, we aimed at getting an impression of the public awareness and acceptance of the Swiss DNA database and the perception of a hypothetical DNA database containing all Swiss residents. Secondly, we wanted to get a broader picture of how people that are not working in the field of forensic genetics think about legal permission to establish phenotypic descriptions of alleged criminals by genetic means. Even though a significant number of study participants did not even know about the existence of the Swiss DNA database, its acceptance appears to be very high. Generally our results suggest that the current forensic use of DNA profiling is considered highly trustworthy. However, the acceptance of a hypothetical universal database would be only as low as about 30% among the 284 respondents to our study, mostly because people are concerned about the security of their genetic data, their privacy or a possible risk of abuse of such a database. Concerning the genetic analysis of externally visible characteristics and biogeographical ancestry, we discover a high degree of acceptance. The acceptance decreases slightly when precise characteristics are presented to the participants in detail. About half of the respondents would be in favor of the moderate use of physical traits analyses only for serious crimes threatening life, health or sexual integrity. The possible risk of discrimination and reinforcement of racism, as discussed by scholars from anthropology, bioethics, law, philosophy and sociology, is mentioned less frequently by the study participants than we would have expected. A national DNA database and the widespread use of DNA analyses for police and justice have an impact on the entire society. Therefore the concerns of lay persons from the respective population should be heard and considered. The aims of this study were to draw a broader picture of the public opinion on DNA databasing and to contribute to the debate about the possible future use of genetics to reveal phenotypic characteristics. Our data might provide an additional perspective for experts involved in regulatory or legislative processes.

Análise genética com Y-SNPs de subgrupos populacionais residentes no Sul de Portugal

Tese de mestrado, Medicina Legal e Ciências Forenses, Universidade de Lisboa, Faculdade de Medicina, 2016

La violenza di genere: analisi della casistica autoptica di femminicidio e degli ammonimenti del Questore per stalking e per violenza domestica della citta metropolitana di Bologna

Il presente lavoro tratta il tema della violenza di genere, in particolare femminicidio, stalking e violenza domestica per la connessione tra questi intercorrente nell’escalation violenta. Spesso, i femminicidi sono preceduti da stalking o ripetuti episodi di violenza fisica prettamente consumata in ambito domestico e relazioni affettive pregresse/attuali. La prima parte del lavoro descrive ambito scientifico e giuridico, internazionale e nazionale, della violenza di genere, dimensione del fenomeno ed evoluzione normativa a tutela delle vittime, come richiesto dalla Convenzione di Istanbul. La seconda parte affronta aspetti medico-legali della violenza di genere (attività di patologia forense, genetica forense e tossicologia forense nei femminicidi, assistenza medico-legale alla vittima di maltrattamenti e violenza sessuale, valutazione medico-legale del danno alla persona per stalking). La terza parte presenta lo studio su casistica autoptica di femminicidi del 1950-2019 e provvedimenti di ammonimento del Questore per stalking e per violenza domestica del 2009-2020 nella provincia bolognese. Secondo i risultati il femminicidio è un fenomeno di “vecchia data”, in un quadro normativo-culturale che “tollerava” violenza a danno di vittime femminili. L’andamento del fenomeno è costante fino a oggi con modifiche di cause e mezzi del decesso. L’aumentata età media delle vittime richiama il crescente fenomeno dell’elder abuse. Negli ammonimenti per stalking e per violenza domestica analizzati prevalgono vittime di genere femminile e autori di genere maschile, in vicende affettive e familiari. Lo studio approfondito delle caratteristiche di autori e vittime di femminicidio, stalking e violenza domestica permette di individuare indicatori di rischio per implementare strategie di prevenzione mirate. Il punto di vista privilegiato medico-legale può assumere un ruolo centrale insieme alle altre figure coinvolte in prevenzione, repressione e contrasto alla violenza di genere. Solo un rigoroso approccio metodologico multidisciplinare può aiutare nella prevenzione. La ricerca in tale ambito è il punto di forza della gestione multidisciplinare della vittima.

Mitochondrial DNA, segments I and II, its applications in population genetics and forensic sciences

The investigations of human mitochondrial DNA (mtDNA) have considerably contributed to human evolution and migration. The Middle East is considered to be an essential geographic area for human migrations out of Africa since it is located at the crossroads of Africa, and the rest of the world. United Arab Emirates (UAE) population inhabits the eastern part of Arabian Peninsula and was investigated in this study. Published data of 18 populations were included in the statistical analysis. The diversity indices showed (1) high genetic distance among African populations and (2) high genetic distance between African populations and non-African populations. Asian populations clustered together in the NJ tree between the African and European populations. MtDNA haplotypes database of the UAE population was generated. By incorporating UAE mtDNA dataset into the existing worldwide mtDNA database, UAE Forensic Laboratories will be able to analyze future mtDNA evidence in a more significant and consistent manner. ^

Bayesian networks for evaluating forensic DNA profiling evidence: a review and guide to literature

Almost 30 years ago, Bayesian networks (BNs) were developed in the field of artificial intelligence as a framework that should assist researchers and practitioners in applying the theory of probability to inference problems of more substantive size and, thus, to more realistic and practical problems. Since the late 1980s, Bayesian networks have also attracted researchers in forensic science and this tendency has considerably intensified throughout the last decade. This review article provides an overview of the scientific literature that describes research on Bayesian networks as a tool that can be used to study, develop and implement probabilistic procedures for evaluating the probative value of particular items of scientific evidence in forensic science. Primary attention is drawn here to evaluative issues that pertain to forensic DNA profiling evidence because this is one of the main categories of evidence whose assessment has been studied through Bayesian networks. The scope of topics is large and includes almost any aspect that relates to forensic DNA profiling. Typical examples are inference of source (or, 'criminal identification'), relatedness testing, database searching and special trace evidence evaluation (such as mixed DNA stains or stains with low quantities of DNA). The perspective of the review presented here is not exclusively restricted to DNA evidence, but also includes relevant references and discussion on both, the concept of Bayesian networks as well as its general usage in legal sciences as one among several different graphical approaches to evidence evaluation.

Simultaneous identification of multiple mammalian species from mixed forensic samples based on mtDNA control region length polymorphism

Molecular species identification in mixed or contaminated biological material has always been problematic. We developed a simple and accurate method for mammal DNA identification in mixtures, based on interspecific mitochondrial DNA control region length polymorphism. Contrary to other published methods dealing with species mixtures, our protocol requires a single universal primer pair and amplification step, and is not based on a pre-defined panel of species. This protocol has been routinely employed by our laboratory for species identification in dozens of human and animal forensic caseworks. Six representative forensic caseworks involving the specific identification of mixed animal samples are reported in this paper, in order to demonstrate the applicability and usefulness of the method.

Whose DNA is this? How relevant a question? (a note for forensic scientists).

This communication seeks to draw the attention of researchers and practitioners dealing with forensic DNA profiling analyses to the following question: is a scientist's report, offering support to a hypothesis according to which a particular individual is the source of DNA detected during the analysis of a stain, relevant from the point of view of a Court of Justice? This question relates to skeptical views previously voiced by commentators mainly in the judicial area, but is avoided by a large majority of forensic scientists. Notwithstanding, the pivotal role of this question has recently been evoked during the international conference "The hidden side of DNA profiles. Artifacts, errors and uncertain evidence" held in Rome (April 27th to 28th, 2012). Indeed, despite the fact that this conference brought together some of the world's leading forensic DNA specialists, it appeared clearly that a huge gap still exists between questions lawyers are actually interested in, and the answers that scientists deliver to Courts in written reports or during oral testimony. Participants in the justice system, namely lawyers and jurors on the one hand and forensic geneticists on the other, unfortunately talk considerably different languages. It thus is fundamental to address this issue of communication about results of forensic DNA analyses, and open a dialogue with practicing non-scientists at large who need to make meaningful use of scientific results to approach and help solve judicial cases. This paper intends to emphasize the actuality of this topic and suggest beneficial ways ahead towards a more reasoned use of forensic DNA in criminal proceedings.

Automated DNA extraction using the QIAsymphony platform: Estimation of DNA recovery from simulated forensic stains

The aim of this study was to evaluate the forensic protocol recently developed by Qiagen for the QIAsymphony automated DNA extraction platform. Samples containing low amounts of DNA were specifically considered, since they represent the majority of samples processed in our laboratory. The analysis of simulated blood and saliva traces showed that the highest DNA yields were obtained with the maximal elution volume available for the forensic protocol, that is 200 ml. Resulting DNA extracts were too diluted for successful DNA profiling and required a concentration. This additional step is time consuming and potentially increases inversion and contamination risks. The 200 ml DNA extracts were concentrated to 25 ml, and the DNA recovery estimated with real-time PCR as well as with the percentage of SGM Plus alleles detected. Results using our manual protocol, based on the QIAamp DNA mini kit, and the automated protocol were comparable. Further tests will be conducted to determine more precisely DNA recovery, contamination risk and PCR inhibitors removal, once a definitive procedure, allowing the concentration of DNA extracts from low yield samples, will be available for the QIAsymphony.

Usefulness of postmortem biochemistry in forensic pathology: illustrative case reports.

The aim of this work is to present some practical, postmortem biochemistry applications to illustrate the usefulness of this discipline and reassert the importance of carrying out biochemical investigations as an integral part of the autopsy process. Five case reports are presented pertaining to diabetic ketoacidosis in an adult who was not known to suffer from diabetes and in presence of multiple psychotropic substances; fatal flecainide intoxication in a poor metabolizer also presenting an impaired renal function; diabetic ketoacidosis showing severe postmortem changes; primary aldosteronism presented with intracranial hemorrhage and hypothermia showing severe postmortem changes. The cases herein presented can be considered representative examples of the importance of postmortem biochemistry investigations, which may provide significant information useful in determining the cause of death in routine forensic casework or contribute to understanding the pathophysiological mechanisms involved in the death process.

Evaluating forensic biology results given source level propositions

The evaluation of forensic evidence can occur at any level within the hierarchy of propositions depending on the question being asked and the amount and type of information that is taken into account within the evaluation. Commonly DNA evidence is reported given propositions that deal with the sub-source level in the hierarchy, which deals only with the possibility that a nominated individual is a source of DNA in a trace (or contributor to the DNA in the case of a mixed DNA trace). We explore the use of information obtained from examinations, presumptive and discriminating tests for body fluids, DNA concentrations and some case circumstances within a Bayesian network in order to provide assistance to the Courts that have to consider propositions at source level. We use a scenario in which the presence of blood is of interest as an exemplar and consider how DNA profiling results and the potential for laboratory error can be taken into account. We finish with examples of how the results of these reports could be presented in court using either numerical values or verbal descriptions of the results.

A two-locus forensic match probability for subdivided populations

A two-locus match probability is presented that incorporates the effects of within-subpopulation inbreeding (consanguinity) in addition to population subdivision. The usual practice of calculating multi-locus match probabilities as the product of single-locus probabilities assumes independence between loci. There are a number of population genetics phenomena that can violate this assumption: in addition to consanguinity, which increases homozygosity at all loci simultaneously, gametic disequilibrium will introduce dependence into DNA profiles. However, in forensics the latter problem is usually addressed in part by the careful choice of unlinked loci. Hence, as is conventional, we assume gametic equilibrium here, and focus instead on between-locus dependence due to consanguinity. The resulting match probability formulae are an extension of existing methods in the literature, and are shown to be more conservative than these methods in the case of double homozygote matches. For two-locus profiles involving one or more heterozygous genotypes, results are similar to, or smaller than, the existing approaches.

Recommendations for animal DNA forensic and identity testing

Genetic analysis in animals has been used for many applications, such as kinship analysis, for determining the sire of an offspring when a female has been exposed to multiple males, determining parentage when an animal switches offspring with another dam, extended lineage reconstruction, estimating inbreeding, identification in breed registries, and speciation. It now also is being used increasingly to characterize animal materials in forensic cases. As such, it is important to operate under a set of minimum guidelines that assures that all service providers have a template to follow for quality practices. None have been delineated for animal genetic identity testing. Based on the model for human DNA forensic analyses, a basic discussion of the issues and guidelines is provided for animal testing to include analytical practices, data evaluation, nomenclature, allele designation, statistics, validation, proficiency testing, lineage markers, casework files, and reporting. These should provide a basis for professional societies and/or working groups to establish more formalized recommendations.

Exclusionary DNA of forensic workers and Australian forensic procedures legislation

Consideration of regulatory issues covering exclusionary DNA of forensic workers - probative effect of eliminating extraneous DNA in a criminal prosecution - current regulatory scheme leaves the legal position of forensic workers' exclusionary DNA obscure.