A genetic basis for anomalous band patterns encountered during DNA STR profiling

Since 1995 the Forensic Science Service (FSS) has carried out DNA profiling of reference samples for the UK National DNA Database and in forensic casework using two multiplex STR profiling systems. During this period, profiles with anomalous banding patterns, although comparatively rare, have been encountered regularly. The FSS has collected instances of triallelic patterns and aberrant diallelic patterns. A systematic examination of these patterns has provided insight into their underlying genetic cause. The triallelic patterns could be classified into two types based on the relative intensities of their component alleles. In the Type 1 pattern the alleles were of uneven intensity, whereas in the Type 2 pattern, all three alleles were of even intensity. Evidence is presented that the more frequent Type 1 pattern is the result of somatic mutation at a heterozygous locus, and the Type 2 pattern is the result of a localized chromosomal rearrangement at a heterozygous locus. Directly from the Type 1 pattern, it was possible to deduce the size difference between the progenitor and mutated allele. All mutational changes were found to be multiples of four nucleotides, suggesting the loss or addition of one or more tetrameric repeat units. Aberrant diallelic patterns were identified by analysts due to an unexpectedly large difference in intensity between alleles at a heterozygous locus. While some of these diallelic patterns are likely caused by the same genetic phenomena described above occurring at a homozygous locus, others are demonstrated to be caused by a mutation in the primer binding sequence, leading to a reduction in amplification efficiency of one allele. It is concluded that based on a visual inspection of a profile, it is possible to infer a likely genetic basis directly from the triallelic pattern. By contrast, the aberrant diallelic patterns can be due to any one of a number of possible genetic effects.     

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.     

Y-STR analysis on DNA mixture samples—Results of a collaborative project of the ENFSI DNA Working Group

The ENFSI (European Network of Forensic Science Institutes) DNA Working Group undertook a collaborative project on Y-STR typing of DNA mixture samples that were centrally prepared and thoroughly tested prior to the shipment. Four commercial Y-STR typing kits (Y-Filer, Applied Biosystems, Foster City, CA, USA; Argus Y Nonaplex, Biotype, Dresden, Germany; Powerplex Y, Promega, Madison, WI, USA; and DYSplex-3, SERAC, Bad Homburg, Germany) were used for the amplification of the mixture samples. The results of the study showed a striking inter-laboratory difference of kit performance as determined from the peak heights of the obtained Y-STR genotypes. Variation in quantity and quality of the shipped DNA can be excluded as reason for the observed differences because both samples and shipping conditions were found to be reproducible in an earlier study. The results suggest that in some cases a laboratory-specific optimization process is indicated to reach a comparable sensitivity for the analysis of minute amounts of DNA.     

Use of the MMPI-2 to predict the employment continuation and performance ratings of recently hired police officers

The MMPI-2 is one of the most frequently employed instruments for the selection of police officers. Serafino and Serafino (1997) collected data which involved information about employment continuation and ratings by supervisors of 32 police officers who had recently been hired and who had been given the MMPI-2 during the hiring process. In this study, the Paranoia Obvious (Pa) and Paranoia Subtle (Ps) scales proved to be the significant. Pa Subtle correlated with removal whereas Pa Obvious correlated with rating. Higher scores on Pa Subtle correlated significantly with being removed from the job, whereas low scores on the Pa Obvious correlated with higher ratings of performance by supervisors. Discussion of the results involved the fact that Subtle Pa scores would suggest paranoid tendencies not easily detected during the interview. Since most high Pa Obvious individuals would have been eliminated in the hiring process, expression of this tendency was at a low level after being hired but if present resulted in low ratings. Significant predictors were noted to be very much a function of the type of criterion variable employed in the study.     

A mixed DNA profile controversy revisited

Semaan et al. (J Forensic Res, 2020, 11, 453) discuss a mock case “where eight different individuals [P₁ through P₈] could not be excluded in a mixed DNA analysis. Even though … expert DNA mixture analysis software was used.” Two of these are the true donors. The LRs reported are incorrect due to the incorrect entry of propositions into LRmix Studio. This forced the software to account for most of the alleles as drop-in, resulting in LRs 60–70 orders of magnitude larger than expected. P₁, P₂, P₄, P₅, and P₈ can be manually excluded using peak heights. This has relevance when using LRmix which does not use peak heights. We extend the work using the same two reference genotypes who were the true contributors as Semaan et al. (J Forensic Res, 2020, 11, 453). We simulate three two-donor mixtures with peak heights using these two genotypes and analyze using STRmix?. For the simulated 1:1 mixture, one of the non-donors’ LRs supported him being a contributor when no conditioning was used. When considered in combination with any other potential donors (i.e., with conditioning), this non-donor was correctly eliminated. For the 3:1 mixture, all results correctly supported that the non-donors were not contributors. The low-template 4:1 mixture LRs with no conditioning showed support for all eight profiles as donors. However, the results from pair-wise conditioning showed that only the two ground truth donors had LRs supporting that they were contributors to the mixture. We recommend the use of peak heights and conditioning profiles, as this allows better sensitivity and specificity even when the persons share many alleles.     

Can ministries of health support primary health care? Some suggestions for structural reorganization and planning

Patrick Vaughan is Reader in health care epidemiology, Gill Walt is Lecturer in health policy and Anne Mills is Lecturer in health economics, at the Evaluation and Planning Centre for Health Care, London School of Hygiene and Tropical Medicine, Gower Street, London WC1, United Kingdom. A previous version of this paper was prepared for the Commonwealth Secretariat, London, for the Conference of Commonwealth Health Ministers held in Ottawa, Canada, in October 1983.     

Autorisierung. Eine wissenschafts- und wirtschaftssoziologische Perspektive auf geistiges Eigentum

Property obliges??and intellectual property entails responsibility about the knowledge produced. The theoretical concept of authorization enables the development of a genuinely sociological perspective of intellectual property. Based on this perspective of intellectual property, it is possible to introduce new aspects in the current and for the advanced knowledge capitalism central debate. The concept of authorization is based on the observation that??from the perspective of knowledge users??it is very difficult (if not impossible) to assess in advance the quality of knowledge and knowledge goods, like for example drugs. This uncertainty entails the consumers?? demand for authorization for an attribution of responsibility. The need of authorization is caused by the extent of insecurity and it exists independently from the aspiration of intellectual property by a company or person (for the time being, the debate struggles only with the last problem). Starting from there, the article examines the question how authorization is being established in the social field. Thereby, it is not only contentious whether or not knowledge should be commercialized or is open access. It is also contentious to which extend the power of definition should be hierarchically monopolized or egalitarianly distributed. The theoretical perspective will be illustrated with a case study on the authorization of seed??the latter being an economic resource which is of elementary importance for human life.