Encoded evidence: DNA in forensic analysis

Sherlock Holmes said "it has long been an axiom of mine that the little things are infinitely the most important", but never imagined that such a little thing, the DNA molecule, could become perhaps the most powerful single tool in the multifaceted fight against crime. Twenty years after the development of DNA fingerprinting, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases.     

Does Exonerating an Accused Researcher Restore the Researcher’s Credibility?

Scientific misconduct appears to be on the rise. However, an accused researcher may later be exonerated. The present research examines to what extent participants adhere to their attitude toward a researcher who allegedly committed academic misconduct after learning that the researcher is innocent. In two studies, participants in an exoneration and an uncorrected accusation condition learned that the ethics committee of a researcher’s university demanded the retraction of one of the researcher’s articles, whereas participants in a control condition did not receive this information. As intended, this manipulation led to a more favorable attitude toward the researcher in the control compared to the exoneration and the uncorrected accusation conditions (pre-exoneration attitude). Then, participants in the exoneration condition learned that the researcher was exonerated and that the article was not retracted. Participants in the uncorrected accusation and the control condition were not informed about the exoneration. Results revealed that the exoneration effectively worked, in that participants in the exoneration condition had a more favorable attitude (post-exoneration attitude) toward the researcher than did participants in the uncorrected accusation condition. Moreover, the post-exoneration attitude toward the researcher was similar in the exoneration and the control conditions. Finally, in the exoneration condition only, participants’ post-exoneration attitude was more favorable than their pre-exoneration attitude. These findings suggest that an exoneration of an accused researcher restores the researcher’s credibility.     

Forensic DNA Analysis of Pacific Salmonid Samples for Species and Stock Identification

Identification of salmonid tissue samples to species or population of origin has been conducted for over 20 forensic cases in British Columbia. Species identification is based on published sequence variation in exon and intron regions of coding genes. Identification of source populations or regions is carried out using microsatellite and major histocompatibility complex allele frequency data collected from populations throughout the species range and with standard genetic stock identification (GSI) methods. Regional contributions to mixture samples are estimated using maximum likelihood mixture analysis and classification of individual genotypes is carried out with Bayesian methods. DNA has been obtained successfully from salmon scale samples, fresh, frozen and canned tissue samples and bloodstains in clothing. Results from DNA analyses have been instrumental in a number of convictions. A major benefit has been cost savings resulting from the number of guilty pleas entered after disclosure to the defendant of results from genetic testing. In two cases, GSI analysis resulted in exoneration of suspects under investigation for possible illegal sales of Fraser River sockeye salmon by substantiating their claim that the fish originated from the Skeena River watershed. DNA analysis has generally corroborated the species and stock identification carried out by fishery officers, but has revealed that species identification of samples from sources such as restaurants and fish plants can be erroneous. Forensic DNA analysis has facilitated the conviction of those who purchase fish not caught under the authority of licence, thus bringing those who buy fish illegally as well as those involved in illegal harvest and sales within the scope of law enforcement.     

Evaluation of DNA Mixtures from Database Search

Summary .  With the aim of bridging the gap between DNA mixture analysis and DNA database search, a novel approach is proposed to evaluate the forensic evidence of DNA mixtures when the suspect is identified by the search of a database of DNA profiles. General formulae are developed for the calculation of the likelihood ratio for a two-person mixture under general situations including multiple matches and imperfect evidence. The influence of the prior probabilities on the weight of evidence under the scenario of multiple matches is demonstrated by a numerical example based on Hong Kong data. Our approach is shown to be capable of presenting the forensic evidence of DNA mixtures in a comprehensive way when the suspect is identified through database search.     

Subjective interpretation,laboratory error and the value of forensic DNA evidence: Three case studies

This article discusses two factors that may profoundly affect the value of DNA evidence for proving that two samples have a common source: uncertainty about the interpretation of test results and the possibility of laboratory error. Three case studies are presented to illustrate the importance of the analyst's subjective judgments in interpreting some RFLP-based forensic DNA tests. In each case, the likelihood ratio describing the value of DNA evidence is shown to be dramatically reduced by uncertainty about the scoring of bands and the possibility of laboratory error. The article concludes that statistical estimates of the frequency of matching genotypes can be a misleading index of the value of DNA evidence, and that more adequate indices are needed. It also argues that forensic laboratoires should comply with the National Research Council's recommendation that forensic test results be scored in a blind or objective manner.Editor's commentsThe author treats the timely and important issue of laboratory error. Readers will need to read the paper by Lempert in this volume for an alternative interpretation of the 1989 proficiency testing of Cellmark diagnostics.     

Forensic DNA analysis for animal protection and biodiversity conservation: A review

The use of DNA analysis in forensic investigations into animal persecution and biodiversity conservation is now commonplace and crimes such as illegal collection/smuggling, poaching, and illegal trade of protected species are increasingly being investigated using DNA based evidence in many countries. Using DNA analysis, it is possible to identify the species and geographical origin (i.e. population) of a forensic sample, and to also individualise the sample with high levels of probability. Despite extensive literature in animal species, there is unfortunately a serious lack of information on plant species, with only a handful of recent studies. In this review, I detail the applications and diverse forensic investigations that have been carried out to date whilst also highlighting recent developmental studies which offer forensic potential for many species in the future.     

Review: domestic animal forensic genetics – biological evidence,genetic markers,analytical approaches and challenges

This review highlights the importance of domestic animal genetic evidence sources, genetic testing, markers and analytical approaches as well as the challenges this field is facing in view of the de facto ‘gold standard’ human DNA identification. Because of the genetic similarity between humans and domestic animals, genetic analysis of domestic animal hair, saliva, urine, blood and other biological material has generated vital investigative leads that have been admitted into a variety of court proceedings, including criminal and civil litigation. Information on validated short tandem repeat, single nucleotide polymorphism and mitochondrial DNA markers and public access to genetic databases for forensic DNA analysis is becoming readily available. Although the fundamental aspects of animal forensic genetic testing may be reliable and acceptable, animal forensic testing still lacks the standardized testing protocols that human genetic profiling requires, probably because of the absence of monetary support from government agencies and the difficulty in promoting cooperation among competing laboratories. Moreover, there is a lack in consensus about how to best present the results and expert opinion to comply with court standards and bear judicial scrutiny. This has been the single most persistent challenge ever since the earliest use of domestic animal forensic genetic testing in a criminal case in the mid‐1990s. Crime laboratory accreditation ensures that genetic test results have the courts’ confidence. Because accreditation requires significant commitments of effort, time and resources, the vast majority of animal forensic genetic laboratories are not accredited nor are their analysts certified forensic examiners. The relevance of domestic animal forensic genetics in the criminal justice system is undeniable. However, further improvements are needed in a wide range of supporting resources, including standardized quality assurance and control protocols for sample handling, evidence testing, statistical analysis and reporting that meet the rules of scientific acceptance, reliability and human forensic identification standards.     

DNA methylation: the future of crime scene investigation?

Proper detection and subsequent analysis of biological evidence is crucial for crime scene reconstruction. The number of different criminal acts is increasing rapidly. Therefore, forensic geneticists are constantly on the battlefield, trying hard to find solutions how to solve them. One of the essential defensive lines in the fight against the invasion of crime is relying on DNA methylation. In this review, the role of DNA methylation in body fluid identification and other DNA methylation applications are discussed. Among other applications of DNA methylation, age determination of the donor of biological evidence, analysis of the parent-of-origin specific DNA methylation markers at imprinted loci for parentage testing and personal identification, differentiation between monozygotic twins due to their different DNA methylation patterns, artificial DNA detection and analyses of DNA methylation patterns in the promoter regions of circadian clock genes are the most important ones. Nevertheless, there are still a lot of open chapters in DNA methylation research that need to be closed before its final implementation in routine forensic casework.     

Science,truth, and forensic cultures: The exceptional legal status of DNA evidence

Many epistemological terms, such as investigation, inquiry, argument, evidence, and fact were established in law well before being associated with science. However, while legal proof remained qualified by standards of ‘moral certainty’, scientific proof attained a reputation for objectivity. Although most forms of legal evidence (including expert evidence) continue to be treated as fallible ‘opinions’ rather than objective ‘facts’, forensic DNA evidence increasingly is being granted an exceptional factual status. It did not always enjoy such status. Two decades ago, the scientific status of forensic DNA evidence was challenged in the scientific literature and in courts of law, but by the late 1990s it was being granted exceptional legal status. This paper reviews the ascendancy of DNA profiling, and argues that its widely-heralded objective status is bound up with systems of administrative accountability. The ‘administrative objectivity’ of DNA evidence rests upon observable and reportable bureaucratic rules, records, recording devices, protocols, and architectural arrangements. By highlighting administrative sources of objectivity, this paper suggests that DNA evidence remains bound within the context of ordinary organisational and practical routines, and is not a transcendent source of ‘truth’ in the criminal justice system.     

Forensic DNA and bioinformatics

The field of forensic science is increasingly based on biomolecular data and many European countries are establishing forensic databases to store DNA profiles of crime scenes of known offenders and apply DNA testing. The field is boosted by statistical and technological advances such as DNA microarray sequencing, TFT biosensors, machine learning algorithms, in particular Bayesian networks, which provide an effective way of evidence organization and inference. The aim of this article is to discuss the state of art potentialities of bioinformatics in forensic DNA science. We also discuss how bioinformatics will address issues related to privacy rights such as those raised from large scale integration of crime, public health and population genetic susceptibility-to-diseases databases.     

Police epistemic culture and boundary work with judicial authorities and forensic scientists: the case of transnational DNA data exchange in the EU

The exchange of forensic DNA data is seen as an increasingly important tool in criminal investigations into organised crime, control strategies and counter-terrorism measures. On the basis of a set of interviews with police professionals involved in the transnational exchange of DNA data between EU countries, this paper examines how forensic DNA evidence is given meaning within the various different ways of constructing a police epistemic culture, it is, a set of shared values concerning valid knowledge and practices normatively considered adequate and legitimate. The police epistemic culture is fuelled by multiple dynamics of boundary work, revealing how police professionals involved in international cooperation (i) define their specific core activities and competencies; (ii) construct particular understandings of valid knowledge and how it should be produced; (iii) enact the police epistemic culture in contrast to the epistemic cultures of the judicial authorities and forensic scientists.     

Forensic biology: its past, present and future

Forensic biology has reached an unprecedented prominence with the advent of DNA profiling, which allows the biologist to use microscopic evidence to match a person to a scene of crime. But there's a lot more in the forensic biologist's arsenal. Here we take a brief look at the who, when and how (and a little of the where to) of forensic biology.     

DNA evidence: Wrong answers or wrong questions?

Much of the controversy over DNA evidence is due to the way in which forensic scientific evidence has classically been presented. The orthodox approach is to consider whether two samples match according to a predetermined criterion. If they do, the fact of match is reported along with an estimate of the frequency of the characteristics. This method fails to address the questions raised in court cases, diverts argument into irrelevancies and stultifies research. Presentation of evidence in the form of likelihood ratios, on the other hand, forces the witness to answer the questions the court is interested in and makes apparent lines of research required to increase our understanding.Editor's commentsThe authors reiterate the crucial role of likelihood ratios in presenting forensic evidence, and so continue the crusade mounted by Evett, Buckleton and others.     

Genotyping DNA isolated from UV irradiated human bloodstains using whole genome amplification

Molecular Biology Reports - Analysis of DNA polymorphisms are the primary technique used for personal identification in forensic cases. However, DNA samples collected as evidence from crime scenes...     

A self-developed AIM-InDel panel designed for degraded DNA analysis: Forensic application characterization and genetic landscape investigation in the Han Chinese population

To assist in forensic DNA investigation, we developed a new panel capable of simultaneously amplifying 56 ancestry-informative InDels, three Y-InDels and the Amelogenin locus in one PCR reaction. The fragment lengths of the InDel amplicons in this panel were restricted to <200 bp to benefit degraded DNA analysis. In this study, we explored the efficiency of this new panel for forensic applications in the Han Chinese population, and further shed light on the genetic structures of Han populations. We showed that the new panel could be served as an efficient tool for ancestry inference of intercontinental populations. Especially, the Han individuals in different regions could be 100% correctly predicted to be of East Asian origin with this new panel. The Han populations in different regions shared similar ancestry components in their genetic structures. Besides, we also revealed that the new panle could be useful for individual identification in different Han Chinese populations. In conclusion, we have provided the necessary evidence that the self-constructed new panel could play an important role in forensic DNA investigation.     

High-resolution melt analysis of DNA methylation to discriminate semen in biological stains

The goal of this study was to develop a method for the detection of semen in biological stains using high-resolution melt (HRM) analysis and DNA methylation. To perform this task, we used an epigenetic locus that targets a tissue-specific differentially methylated region for semen. This specific locus, ZC3H12D, contains methylated CpG sites that are hypomethylated in semen and hypermethylated in blood and saliva. Using this procedure, DNA from forensic stains can be isolated, processed using bisulfite-modified polymerase chain reaction (PCR), and detected by real-time PCR with HRM capability. The method described in this article is robust; we were able to obtain results from samples with as little as 1 ng of genomic DNA. Samples inhibited by humic acid still produced reliable results. Furthermore, the procedure is specific and will not amplify non-bisulfite-modified DNA. Because this process can be performed using real-time PCR and is quantitative, it fits nicely within the workflow of current forensic DNA laboratories. As a result, it should prove to be a useful technique for processing trace evidence samples for serological analysis.     

DNA fingerprinting for forensic identification: potential effects on data interpretation of subpopulation heterogeneity and band number variability

Some methods of statistical analysis of data on DNA fingerprinting suffer serious weaknesses. Unlinked Mendelizing loci that are at linkage equilibrium in subpopulations may be statistically associated, not statistically independent, in the population as a whole if there is heterogeneity in gene frequencies between subpopulations. In the populations where DNA fingerprinting is used for forensic applications, the assumption that DNA fragments occur statistically independently for different probes, different loci, or different fragment size classes lacks supporting data so far; there is some contrary evidence. Statistical association of alleles may cause estimates based on the assumption of statistical independence to understate the true matching probabilities by many orders of magnitude. The assumptions that DNA fragments occur independently and with constant frequency within a size class appear to be contradicted by the available data on the mean and variance of the number of fragments per person. The mistaken use of the geometric mean instead of the arithmetic mean to compute the probability that every DNA fragment of a randomly chosen person is present among the DNA fragments of a specimen may substantially understate the probability of a match between blots, even if other assumptions involved in the calculations are taken as correct. The conclusion is that some astronomically small probabilities of matching by chance, which have been claimed in forensic applications of DNA fingerprinting, presently lack substantial empirical and theoretical support.     

Legal and public policy issues in DNA forensics

Since the 1980s, when DNA markers for identifying biological samples were first developed, the use of DNA evidence to convict defendants and to exonerate the wrongfully accused and wrongfully imprisoned has greatly increased. But the increase in databanks for storing DNA information on individuals convicted of certain crimes raises important legal and ethical issues on the use, collection and storage of DNA evidence. These issues have been the subject of a recent US National Commission, which will, hopefully, broaden public discourse about the future uses of DNA forensic technology.     

土壤微生物在法庭科学领域中的应用研究进展

土壤物证在法庭科学领域的应用由来已久,主要是基于其外观、颜色、元素组成、矿物学等理化特性及土壤夹杂物等的比对检验。近年来,随着高通量测序技术的发展,法医土壤微生物检验不再完全依赖于传统培养技术,而是直接挖掘分析土壤中的全部微生物DNA信息,并将这些信息应用于法庭科学领域内的样本比对、土壤物证区域环境推断和溯源研究等,从而凸显出土壤微生物物证在案件侦查和法庭诉讼方面的巨大价值和应用潜力。本文通过综述国内外有关法医土壤微生物研究的最新进展,指出了土壤微生物多样性检验在法庭科学领域的应用潜力,分析了法医土壤微生物群落多样性的影响因素,最后探讨了法医土壤微生物研究中存在的问题和未来的发展方向。