A DNA microarray system for forensic SNP analysis

Forensic DNA analysis is routinely performed using polymorphic short tandem repeat (STR) markers. However, for degraded or minute DNA samples, analysis of autosomal single nucleotide polymorphisms (SNPs) in short fragments might be more successful. Furthermore, sequencing of mitochondrial DNA (mtDNA) is often performed on highly degraded or scarce samples due to the high copy number of mtDNA in each cell. Due to the increasing number of complete mtDNA genome sequences available, the limited discrimination power of an mtDNA analysis, may be increased by analysis of coding region polymorphisms in addition to the non-coding variation. Since sequence analysis of the coding region would require more material than generally present in forensic samples, an alternative SNP analysis approach is required. We have developed a one-colour microarray-based SNP detection system for limited forensic materials. The method is based on minisequencing in solution prior to hybridisation to universal tag-arrays. In a first outline of a forensic chip, a combination of 12 nuclear and 21 mitochondrial SNP markers are analysed simultaneously. The mitochondrial markers on the chip are polymorphisms within the hypervariable region as well as in the coding region. Even though the number of markers in the current system is limited, it can easily be extended to yield a greater power of discrimination. When fully developed, microarray analysis provides a promising system for efficient sensitive SNP analysis of forensic samples in the future.     

The femoral head: sex assessment of prehistoric New Zealand Polynesian skeletal remains

Prehistoric Polynesian skeletal remains are frequently being recovered in New Zealand due to the increasing pace of urbanisation. Since such material must often be reinterred quickly, it is important that the sex of individuals be determined from the remains in a relatively short time. For this purpose, discriminant function analysis was utilised for sex determination of prehistoric adult New Zealand Polynesian femora (47 male and 44 female). Three measurements of the femoral head were taken and subjected to Statistical Package for the Social Sciences (SPSS) discriminant function analysis. For the discriminant functions derived, accuracy of sex determination ranged from 80.9% to 82.4%. Reduction in error over random assignment by sex ranged from 62% to 65%.     

Desperately seeking donors: the 'saviour sibling' decision in Quintavalle v Human Fertilisation and Embryology Authority (UK)

The recent House of Lords decision in Quintavalle v Human Fertilisation and Embryology Authority has raised difficult and complex issues regarding the extent to which embryo selection and reproductive technology can be used as a means of rectifying genetic disorders and treating critically ill children. This comment outlines the facts of Quintavalle and explores how the House of Lords approached the legal, ethical and policy issues that arose out of the Human Fertilisation and Embryology Authority's (UK) decision to allow reproductive and embryo technology to be used to produce a 'saviour sibling' whose tissue could be used to save the life of a critically ill child. Particular attention will be given to the implications of the decision in Quintavalle for Australian family and medical law and policy. As part of this focus, the comment explores the current Australian legislative and policy framework regarding the use of genetic and reproductive technology as a mechanism through which to assist critically ill siblings. It is argued that the present Australian framework would appear to impose significant limits on the medical uses of genetic technology and, in this context, would seem to reflect many of the principles that were articulated by the House of Lords in Quintavalle.     

STR analysis of artificially degraded DNA-results of a collaborative European exercise

Degradation of human DNA extracted from forensic stains is, in most cases, the result of a natural process due to the exposure of the stain samples to the environment. Experiences with degraded DNA from casework samples show that every sample may exhibit different properties in this respect, and that it is difficult to systematically assess the performance of routinely used typing systems for the analysis of degraded DNA samples. Using a batch of artificially degraded DNA with an average fragment size of approx. 200 bp a collaborative exercise was carried out among 38 forensic laboratories from 17 European countries. The results were assessed according to correct allele detection, peak height and balance as well as the occurrence of artefacts. A number of common problems were identified based on these results such as strong peak imbalance in heterozygous genotypes for the larger short tandem repeat (STR) fragments after increased PCR cycle numbers, artefact signals and allelic drop-out. Based on the observations, strategies are discussed to overcome these problems. The strategies include careful balancing of the amount of template DNA and the PCR cycle numbers, the reaction volume and the amount of Taq polymerase. Furthermore, a careful evaluation of the results of the fragment analysis and of automated allele calling is necessary to identify the correct alleles and avoid artefacts.     

Y-chromosome STR system, Y-PLEX 12, for forensic casework: development and validation

The Y-PLEX 12 system, developed for use in human identification, enables simultaneous amplification of eleven polymorphic short tandem repeat (STR) loci, namely DYS392, DYS390, DYS385 a/b, DYS393, DYS389I, DYS391, DYS389II, DYS 19, DYS439 and DYS438, residing on the Y chromosome and Amelogenin. Amelogenin provides results for gender identification and serves as internal control for PCR. The validation studies were performed according to the DNA Advisory Board's (DAB) Quality Assurance Standards. The minimal sensitivity of the Y-PLEX 12 system was 0.1 ng of male DNA. The mean stutter values ranged between 3.76-15.72%. A full male profile was observed in mixture samples containing 0.5 ng of male DNA and up to 400 ng of female DNA. Amelogenin did not adversely affect the amplification of Y-STRs in mixture samples containing male and female DNA. The primers for the Y-STR loci present in Y-PLEX 12 are specific for human DNA and some higher primates. None of the primate samples tested provided a complete profile at all 11 Y-STR loci amplified with the Y-PLEX 12 system. Y-PLEX 12 is a sensitive, valid, reliable, and robust multiplex system for forensic analysis, and it can be used in human forensic and male lineage identification cases.     

STR DNA typing: increased sensitivity and efficient sample consumption using reduced PCR reaction volumes

Improvements in detection limits/sensitivity and lower sample consumption are potential benefits of reducing PCR reaction volumes used in forensic DNA typing of crime scene samples. This premise was studied first with experimental mixtures and a nine-loci megaplex, which demonstrated stochiometric amplification and accurate detection. Next, adjudicated casework samples were subjected to amplification under 15 different template DNA to PCR reaction volume ratios. Reduction of PCR reaction volume and DNA down to 10 microL and 0.500 ng, respectively, produced identical profiles with the same signal intensity and heterozygous allele peak height ratio (HR). Reduction to 5 microL and 0.063 ng yielded HR values that were slightly affected in one to three STR loci. PCR reaction volume reduction can enhance detection and sensitivity while reducing the consumption of irreplaceable crime scene samples.     

Detecting Deception in Children's Testimony: Factfinders' Abilities to Reach the Truth in Open Court and Closed-Circuit Trials

This study examined the influence of closed-circuit television (CCTV) on jurors' abilities to detect deception in children's testimony. Children ages 7–9 individually played games and made a video movie with a male confederate. In the guilty condition, stickers were placed on exposed body parts (i.e., the child's arm, toes, and bellybutton). In the not-guilty and deception conditions, stickers were placed on the child's clothing rather than on bare skin. Approximately 3 weeks later, mock jurors recruited from the community viewed child participants testify either in a traditional courtroom setting or via one-way CCTV. The mock jurors responded to questions about the child witness and the defendant as well as deliberated to reach a verdict. Children in the deception condition were asked to testify as if the stickers had been placed on exposed body parts rather than on their clothing. Predeliberation, jurors were less likely to convict when a child testified in the deception condition as opposed to the guilty condition. These differences disappeared following deliberation. There was no support for the notion that jurors reach the truth better when children testify in open court versus via CCTV. Implications for jurors' abilities to reach the truth are discussed.     

Use of the MMPI-2 and the Inwald personality inventory to identify the personality characteristics of dropouts from a state police academy

The MMPI-2 and the Inwald Personality Inventory were employed to investigate the personality characteristics of dropouts from a state police academy. A traditional model of training borrowed from military models was used at the academy rather than a police generated model. Sensitive and independent individuals, more compatible with modern community policing methods may have rejected police work as a result of the experience. 15 academy completers and 9 dropouts were used in the sample. Analyses of the scales of the MMPI-2 and the Inwald Personality Inventory identified variables upon which the two groups differed. The hypothesis that more sensitive, empathic and independent individuals were leaving the academy appeared to be supported.     

BritCrits: Subversion and submission,past, present and future

This article explores some of the intellectual influences which have shaped the development of Critical Legal Studies in Britain and the contexts in which these influences made themselves felt. It then considers which influences might or should steer Critical Legal Studies in the future. In terms of the past, specific attention is given to the influence of Marxism, Freud and Lacan, feminism, Foucault and Derrida, and recent genres of history-writing. As to the future, the question is asked whether Critical Legal Studies will engage constructively with recent developments in the life sciences and the philosophy of science, and, more generally, whether it will be able to surpass its established mooring in the philosophy of history. This revised version was published online in July 2006 with corrections to the Cover Date.