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Category Archives: Forensic DNA
J. Forensic Nurs. 2014; 10(1): 50-57; DOI: 10.1097/JFN.0000000000000022
Properly collected evidence from a sexual assault examination can assist in the prosecution of the suspected perpetrator or in the exoneration of the wrongfully accused. Previous studies have documented the increased quality of evidence collected by sexual assault nurse examiners (SANEs) versus non-SANE trained providers (Ledray & Simmelink, 1997; Sievers, Murphy, & Miller, 2003) as well as the effectiveness of SANE programs (Campbell, Patterson, & Lichty, 2005; National Institute of Justice, 1999). SANE nurses attempt to collect appropriate specimens through the correct means and in sufficient quantities for forensic analysis with every examination. Samples of good analytical quality offer the best chance of obtaining deoxyribonucleic acid (Burg, Kahn, & Welch, 2011). As one method of quality improvement, SANE nurses can learn to increase the consistency of quality evidence collection by eliciting feedback from the analysts who receive and process the specimens. A national survey of crime laboratories that analyze sexual assault kits was conducted. This paper will present forensic analysts’ perspectives about the quality of data collection, feedback for improvement, and resources for further education.
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Australian Journal of Forensic Sciences Published online: 30 Jan 2014
This paper explores changes over recent decades to the law governing a Queensland criminal trial, from committal through to the Judge’s summing up. Reforms have included: substantial removal of the accused’s entitlement to a committal hearing; the restriction of the exposure of child witnesses in relation to sexual offences; the prosecution’s enhanced duty of disclosure; the 1997 introduction of a facility for pre-trial directions hearings; the increasing scope for judges to instruct the jury, from trial commencement, since the 1980s; 1995 reforms in relation to jury empanelment, removing parties’ unlimited peremptory rights of challenge without cause; and changes to trial evidence presentation, with growing use of audiovisual technologies and restrictions on the cross-examination of rape complainants. The paper raises further possible reforms, such as strengthening the disclosure requirements of the defence and empowering judges to assist jurors’ understanding of what constitutes ‘beyond reasonable doubt’, with Victorian legislation as a model.
Kelly, H. [et al.] (2014) Science & Justice, 54(1): 66-70 http://dx.doi.org/10.1016/j.scijus.2013.07.003
Complex mixtures and LtDNA profiles are difficult to interpret. As yet there is no consensus within the forensic biology community as to how these profiles should be interpreted. This paper is a review of some of the current interpretation models, highlighting their weaknesses and strengths. It also discusses what a forensic biologist requires in an interpretation model and if this can be realistically executed under current justice systems.
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Christophe Frippiat, Fabrice Noel (2014) Forensic Science International: Genetics Vol. 9, pg 81-84 http://dx.doi.org/10.1016/j.fsigen.2013.11.009
The success of forensic genetics has led to considerable numbers of DNA samples that must be stored. Thus, the ability to preserve the integrity of forensic samples is essential. The possibility of retesting these samples after many years should be guaranteed. DNA storage typically requires the use of freezers. Recently, a new method that enables DNA to be stored at room temperature was developed. This technology is based on the principles of anhydrobiosis and thus permits room-temperature storage of DNA. This study evaluates the ability of this technology to preserve DNA samples mimicking true mixture casework samples for long periods of time. Mixed human DNA from 2 or 3 persons and at low concentrations was dried and stored for a period ranging from 6 months to 2 years in the presence of a desiccant. The quality of the stored DNA was evaluated based on quantitative peak height results from Short Tandem Repeat (STR) genotyping and the number of observed alleles. Furthermore, we determined whether this matrix has a potential inhibitory or enhancing effect on the PCR genotyping reactions. In our previous work, we demonstrated the considerable potential of this new technology. The present study complements our previous work. Our results show that after 2 years of aging at room temperature, there is a decrease in the number of observed alleles and in the peak height of these alleles.
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The Successful Recovery of Low Copy Number and Degraded DNA from Bones Exposed to Seawater Suitable for Generating a DNA STR Profile
Alessandro Mameli [et al...] (2013 early view) Journal of Forensic Sciences DOI: 10.1111/1556-4029.12323
A universal method allowing for DNA profiling from bones exposed to seawater has not been reported yet. This study refers on the identification of a body immersed in seawater for 8 months. The biological material for identification was the mandibular body, usually characterized by low success rates of DNA analysis. Initially, two extraction protocols were performed with negative results: one used for bones immersed in fresh water and a silica-column procedure. A third protocol was performed, which combined the extraction of a higher amount of bone powder, the use of multi-silica-based extraction columns followed by a concentration step. This protocol allowed to obtain low copy number DNA and to generate a 12-loci STR profile by combining conventional STR typing and mini-STR technologies. This protocol could be suitable when human bones have been exposed to severe environmental conditions, and the available nuclear DNA is highly degraded and in low copy number.
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Finding the needle in the haystack: Differentiating “identical” twins in paternity testing and forensics by ultra-deep next generation sequencing
Forensic Science International: Genetics Volume 9, March 2014, Pages 42–46; http://dx.doi.org/10.1016/j.fsigen.2013.10.015
Monozygotic (MZ) twins are considered being genetically identical, therefore they cannot be differentiated using standard forensic DNA testing. Here we describe how identification of extremely rare mutations by ultra-deep next generation sequencing can solve such cases. We sequenced DNA from sperm samples of two twins and from a blood sample of the child of one twin. Bioinformatics analysis revealed five single nucleotide polymorphisms (SNPs) present in the twin father and the child, but not in the twin uncle. The SNPs were confirmed by classical Sanger sequencing. Our results give experimental evidence for the hypothesis that rare mutations will occur early after the human blastocyst has split into two, the origin of twins, and that such mutations will be carried on into somatic tissue and the germline. The method provides a solution to solve paternity and forensic cases involving monozygotic twins as alleged fathers or originators of DNA traces.
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Forensic Science Policy & Management: An International Journal Volume 3, Issue 4, 2012; DOI:10.1080/19409044.2013.844214
An examination of the budgets of forensic laboratories reveals an unused or underused tool at the disposal of forensic laboratories. Equipment leasing offers an opportunity for a unilateral increase in the purchasing power of existing laboratory budgets and an immediate response to austerity measures. Rather than react to budget tightening with reductions in force, shared furloughs, or the forfeiture of unfilled positions, a laboratory director can forestall such measures and even see an effective increase in disposable income through a planned use of operating leases. If a public laboratory makes an equipment purchase, the cost to the laboratory will be the full list price from the equipment supplier. However, when a private laboratory makes the same equipment purchase, it pays the supplier the full list price, but is able to deduct the expense from its income when it calculates its corporate income tax and ends up with a final expense, net of taxes, that is considerably less than the cost to the public laboratory. Leasing offers the opportunity for a private entity to purchase equipment and pass on some of the tax savings to the public laboratory through an operating lease. In this manuscript the leasing gains are explained and accompanied by a detailed example to illustrate the potential magnitudes of the gains. In this example, a representative laboratory is shown to experience nearly a twenty-five percent gain from the lease compared to the expense of a direct purchase.
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International Journal of Legal Medicine October 2013
Literature describes multiple possible links between genetic variations in the neuroadrenergic system and the occurrence of sudden infant death syndrome. The X-chromosomal Monoamine oxidase A (MAOA) is one of the genes with regulatory activity in the noradrenergic and serotonergic neuronal systems and a polymorphism of the promoter which affects the activity of this gene has been proclaimed to contribute significantly to the prevalence of sudden infant death syndrome (SIDS) in three studies from 2009, 2012 and 2013. However, these studies described different significant correlations regarding gender or age of children. Since several studies, suggesting associations between genetic variations and SIDS, were disproved by follow-up analysis, this study was conducted to take a closer look at the MAOA gene and its polymorphisms. The functional MAOA promoter length polymorphism was investigated in 261 SIDS cases and 93 control subjects. Moreover, the allele distribution of 12 coding and non-coding single nucleotide polymorphisms (SNPs) of the MAOA gene was examined in 285 SIDS cases and 93 controls by a minisequencing technique. In contrast to prior studies with fewer individuals, no significant correlations between the occurrence of SIDS and the frequency of allele variants of the promoter polymorphism could be demonstrated, even including the results from the abovementioned previous studies. Regarding the SNPs, three statistically significant associations were observed which had not been described before. This study clearly disproves interactions between MAOA promoter polymorphisms and SIDS, even if variations in single nucleotide polymorphisms of MAOA should be subjected to further analysis to clarify their impact on SIDS.
Australian Journal of Forensic Sciences Published online: 29 Oct 2013
In this paper, the variability of peak heights for mixed DNA profiles separated on two different models of a capillary electrophoresis instrument is examined. The Applied Biosystems 3500xl instrument produces larger peaks than the 3130xl instrument. If the relative difference in peak heights between the two instruments was a constant factor then all relative heights should be preserved. However, if that factor differed, say, for small versus large peaks then relative heights would change. The effect of peak height and dye on the relative difference in peak height between injections of the same amplicon on a 3500xl and 3130xl instrument for a series of mixed DNA profiles using the Promega PowerPlex 21 multiplex is described. The ratio of peak heights between instrument models resulted in values up to four times higher on the 3500 compared with the 3130. The magnitude of this difference was shown to be dependent on the dye but not on the peak heights themselves. Relative parameters stutter, heterozygote balance, and mixture proportion were very similar between the two instrument models, indicating that the interpretation guidelines developed on one machine are likely to be transportable to different capillary electrophoresis instrument models and different machines of the same model.