Simon J. Walsh

Forensic implications of genetic analyses from degraded DNA—A review

Forensic DNA identification techniques are principally based on determination of the size or sequence of desired PCR products. The fragmentation of DNA templates or the structural modifications that can occur during the decomposition process can impact the outcomes of the analytical procedures. This study reviews the pathways involved in cell death and DNA decomposition and the subsequent difficulties these present in DNA analysis of degraded samples.

Comparison of the variables affecting the recovery of DNA from common drinking containers

As the boundaries of forensic DNA profiling continue to expand, less obvious sources of biological evidence are being collected at crime scenes for DNA profiling. One example is the recovery of biological evidence from common drink containers, such as bottles and cans, which have been found at crime scenes. There are many variables that may have an impact on recovering a DNA profile from such exhibits. In this research, the effects of person to person variation, time, type of drink (including alcoholic and non-alcoholic beverages), and type of drink container, were assessed for their impact on the major analytical outcomes of the DNA process. The results show that the alpha-amylase activity varies from individual to individual and is reduced in the presence of some alcoholic drinks. A reasonable DNA yield was obtained from all samples, however, the concentrations exhibited significant person to person variation. The type of drink container influenced the DNA yield with cans giving a higher yield than bottles of the same drink type. To a reduced extent the presence or absence of alcohol affected the overall DNA yield and when partial or failed DNA profiles were produced they were more likely to be associated with alcoholic drinks than non-alcoholic drinks.

Recent advances in forensic genetics

Like many applications of molecular diagnostics, the field of forensic biology is undergoing a phase of expansion and diversification. The growth of forensic DNA databases and adoption of sophisticated analytical methods have catalyzed this increasing role. The range of molecular markers exploited in the fight against crime is beginning to increase too, and genes implying personal or physical characteristics are emerging in the research literature. However, the operational context of forensic biology is unlike many other fields of science. Harmonizing technological breakthroughs with the requirements of law enforcement agencies and the complexities of the legal system is an added challenge and one which evokes ongoing debate. This review examines the current status of this dynamic and important application of modern genetics.

A comprehensive analysis of microsatellite diversity in Aboriginal Australians.

AbstractIndigenous Australians have a unique evolutionary history that has resulted in a complex system of inter and intra-tribal relationships. While a number of studies have examined the population genetics of indigenous Australians, most have used a single sample to illuminate details of the global dispersal of modern humans and few studies have focussed on the population genetic features of the widely dispersed communities of the indigenous population. In this study we examine the largest Aboriginal Australian sample yet analysed (N = 8,868) at fifteen hypervariable autosomal microsatellite loci. A comprehensive analysis of differentiation indicates different levels of heterogeneity among indigenous peoples from traditional regions of Aboriginal Australia. The most genetically differentiated populations inhabit the North of the country, in particular the Tiwi of Melville and Bathurst islands, Arnhem Land (itself divided into West and East Arnhem), and Fitzmaurice regions. These tribal groups are most differentiated from other Aboriginal Australian tribes, especially those of the Central Desert regions, and also show marked heterogeneity from one another. These genetic findings are supportive of observations of body measurements, skin colour, and dermatoglyphic features which also vary substantially between tribes of the North (e.g. Arnhem Land) and Central Australian regions and, more specifically, between the Tiwi and West and East Arnhem tribes. This study provides the most comprehensive survey of the population genetics of Aboriginal Australia.

The nucleic acid revolution continues - will forensic biology become forensic molecular biology?

Molecular biology has evolved far beyond that which could have been predicted at the time DNA identity testing was established. Indeed we should now perhaps be referring to “forensic molecular biology.” Aside from DNA’s established role in identifying the “who” in crime investigations, other developments in medical and developmental molecular biology are now ripe for application to forensic challenges. The impact of DNA methylation and other post-fertilization DNA modifications, plus the emerging role of small RNAs in the control of gene expression, is re-writing our understanding of human biology. It is apparent that these emerging technologies will expand forensic molecular biology to allow for inferences about “when” a crime took place and “what” took place. However, just as the introduction of DNA identity testing engendered many challenges, so the expansion of molecular biology into these domains will raise again the issues of scientific validity, interpretation, probative value, and infringement of personal liberties. This Commentary ponders some of these emerging issues, and presents some ideas on how they will affect the conduct of forensic molecular biology in the foreseeable future.

Western Australian Sub-Population Data for the Thirteen AMPFlSTR ® Profiler Plus ™ and COfiler ™ STR Loci

Allele frequencies were determined for each of the AMPFlSTR® Profiler Plus™ and Cofiler™ STR loci from individuals representing the three major sub-populations of Western Australia, a state of Australia.

Gamma Irradiation as a Biological Decontaminant and Its Effect on Common Fingermark Detection Techniques and DNA Profiling

Abstract:  The use of disease‐causing organisms and their toxins against the civilian population has defined bioterrorism and opened forensic science up to the challenges of processing contaminated evidence. This study sought to determine the use of gamma irradiation as an effective biological decontaminant and its effect on the recovery of latent fingermarks from both porous and nonporous items. Test items were contaminated with viable spores marked with latent prints and then decontaminated using a cobalt 60 gamma irradiator. Fingermark detection was the focus with standard methods including 1,2‐indanedione, ninhydrin, diazafluoren‐9‐one, and physical developer used during this study. DNA recovery using 20% Chelex extraction and quantitative real‐time polymerase chain reaction was also explored. Gamma irradiation proved effective as a bacterial decontaminant with D‐values ranging from 458 to 500 Gy for nonporous items and 797–808 Gy for porous ones. The results demonstrated the successful recovery of latent marks and DNA establishing gamma irradiation as a viable decontamination option.

Bioterrorism: processing contaminated evidence, the effects of formaldehyde gas on the recovery of latent fingermarks.

Abstract:  In the present age of heightened emphasis on counter terrorism, law enforcement and forensic science are constantly evolving and adapting to the motivations and capabilities of terrorist groups and individuals. The use of biological agents on a population, such as anthrax spores, presents unique challenges to the forensic investigator, and the processing of contaminated evidence. In this research, a number of porous and nonporous items were contaminated with viable anthrax spores and marked with latent fingermarks. The test samples were then subjected to a standard formulation of formaldehyde gas. Latent fingermarks were then recovered postdecontamination using a range of methods. Standard fumigation, while effective at destroying viable spores, contributed to the degradation of amino acids leading to loss of ridge detail. A new protocol for formaldehyde gas decontamination was developed which allows for the destruction of viable spores and the successful recovery of latent marks, all within a rapid response time of less than 1 h.

DNA Profiling and Criminal Justice: A Contribution to a Changing Debate

Abstract Forensic DNA profiling is now a routine feature of the criminal justice system in Australia. Its applications in this context continue to increase. Technological advancements and the use of DNA databases have facilitated the uptake of biological evidence into criminal investigations. The development of DNA methodology has progressed through discernable phases that have been paralleled by discussion amongst the legal community. The context of development and the associated debate has changed. It now encompasses broader issues, concerned less specifically with the technology itself and more with the most appropriate means for its use. To contribute more purposefully to this debate and to achieve the most meaningful outcomes from the criminal justice system, we must first understand more holistically the role that DNA evidence plays and the impact that it is capable of. This paper reviews aspects of the forensic and legal contexts of the use of DNA technology in the Justice system. This is a prelude to future research and a justification for the need for such research.

Use of subpopulation data in Australian forensic DNA casework

DNA profiling evidence presented in court should be accompanied by a reliable estimate of its evidential weight. In calculating such statistics, allele frequencies from commonly employed autosomal microsatellite loci are required. These allele frequencies should be collected at a level that appropriately represents the genetic diversity that exists in the population. Typically this occurs at broadly defined bio-geographic categories, such as Caucasian or Asian. Datasets are commonly administered at the jurisdictional level. This paper focuses on Australian jurisdictions and assesses whether this current practice is appropriate for Aboriginal Australian and Caucasian populations alike. In keeping with other studies we observe negligible differences between Caucasian populations within Australia when segregated geographically. However segregation of Aboriginal Australian population data along contemporary State and Territory lines appears to mask the diversity that exists within this subpopulation. For this reason datasets collated along more traditional lines may be more appropriate, particularly to distinguish the most genetically differentiated populations residing in the north of the continent.