Sequence analysis of a new short tandem repeat locus D17S2266E located in the human growth hormone gene cluster HumGH@

D17S2266E is a new, variable genetic marker exhibiting polymorphism of the number of repeats of four- and two-nucleotide motifs. This study, carried out on a group of 250 unrelated persons from various regions of Poland, revealed the presence of 24 different alleles ranging in size from 232 to 290 base pairs. Analysis of the sequenced fragments demonstrated that the alleles consisted of two flanking regions and two variable blocks that were separated by a consensus sequence. There were (AAAG)(5)(AG)(1)(AAAG)(3-4) repeats in the first block, and [(AAAG)(2)(AG)(1)](0-1)[(AAAG)(6)(AG)(1)](0-1)(AAAG)(n) repeats in the second block. On the basis of the allele frequencies in the population, we were able to do biostatistical calculations, which gave the following results: expected heterozygosity 0.8947 +/- 0.0137, power of discrimination 0.9793, polymorphism information content 0.8837, probability of exclusion (PE) 0.7859, PE for motherless cases 0.6473, and an average paternity index of 4.7470. These biostatistical parameters show that the marker D17S2266E can find a wide range of applications in forensic testing.     

Creative internationalization: widening the perspectives on analysis and policy regarding international R&D activities

Internationalization in R&D is further growing; it is changing its geographical balance, as it is shifting somewhat to the Far East, and its nature, increasing the global quest for talent and good research conditions as well as for low cost R&D. This paper focuses on the European perspective, i.e. it discusses current challenges Europe faces vis-à-vis trends in industrial R&D, but the findings and arguments are more general ones. It argues that our perspective on internationalization is still shaped too much by a zero sum-rationale, whereby one location wins R&D capacity that another location loses. It develops a cost–benefit matrix in order to capture the overall costs and benefits of international R&D activities more broadly. The paper argues that more creativity is needed, that our perspective needs to be broadened to tackle all variables conditioning international activities in R&D (including local conditions of demand and discourse) and to stress the importance of the absorption of global knowledge by as many actors within an innovation system as possible. On the basis of recent survey data the paper furthermore concludes that public research should be thought of as a trans-national transmission belt of knowledge and as the prime factor that shapes the attractiveness and effectiveness of a location for business R&D. Finally, it is argued that policy schemes geared towards international R&D need to accept and tackle the issue of co-ordination of governance and to take advantage of the flexible possibilities offered at the European level, beyond the logic of the European Framework Programme.

A D19S433 primer binding site mutation and the frequency in Japanese of the silent allele it causes

Short tandem repeat studies are powerful tools for parentage analysis and for identification of missing persons, victims of murder, and victims of mass fatalities when reference samples are unavailable. The primer in the Identifiler kit failed to amplify an allele at the D19S433 locus, producing a silent ("null") allele. The causal mutation is a base change (G>A) 32 nucleotides downstream from the 3' end of the AAGG repeats. The silent alleles are problematical in parentage analysis because when transmitted, they can cause a parent-child inconsistency that is unrelated to Mendelian genetics. The inconsistency is sometimes termed an "apparent opposite homozygosity" and it produces false evidence of nonparentage. Alternative primers were designed to amplify the D19S433 locus alleles and they detect the silent allele. Frequencies of the (no longer) silent allele were determined to be 0.0114 in 176 people from Shizuoka (Honshu) and 0.0128 in 156 people from Okinawa.     

Organisational change and innovation system dynamics: the reform of the UK government defence research establishments

Since the end of the Cold War, ministries of defence in Europe and the United States have sought new models for the management of government defence research laboratories. The United Kingdom’s reform and subsequent privatisation of its government defence research establishments (GDREs) represents one of the most radical policy responses. This paper considers the UK case through the lens of innovation systems theory and uses defence labs reform to examine the impact of organisational change on the dynamics of an innovation system. The potential policy implications for the management of government defence research laboratories are also considered.

Variability of the Entire Mitochondrial DNA Control Region in a Human Isolate from the Pas Valley (Northern Spain)

Abstract: In this study, we analyzed the entire mtDNA control region in 61 unrelated individuals from the Pas Valley (Cantabria), a human isolate from northern Spain, to evaluate the suitability of this analysis to increase the power of discrimination of this locus for forensic purposes in human isolates. Low values obtained for the diversity parameters confirmed the relative isolation of this human group. The main findings of this study indicated that even the analysis of the entire mtDNA control region may have important limitations for use in forensic casework when dealing with human isolates: none of the 44 individuals who exhibited identical HVI‐HVII haplotypes could be further differentiated by analysis of segment HVIII. Nevertheless, analysis of the entire mtDNA control region proved to be useful to determine the ancestry of the samples examined, by contributing to the confirmation, and, on occasion, even to the refinement of the haplogroup assignment.     

TAR DNA结合蛋白43的表达与脑损伤的相关性研究进展

TAR DNA结合蛋白43(TAR DNA-binding domain protein 43,TDP-43)是一种高度保守、广泛表达的核蛋白。如今发现TDP-43在大多数神经退行性疾病如阿尔茨海默症患者中表达,为神经退行性疾病相关的标记蛋白。本文从目前国内外的研究现状出发,围绕TDP-43的表达与脑损伤的相关性,在对TDP-43生物学特性认识的基础上,着重探讨TDP-43在急、慢性颅脑损伤中的特殊表达与作用,从而探索TDP-43在法医病理学中确定死亡原因、判定致伤致残情况的可行性。     

应用CT三维重组技术判定胸骨性别的研究

目的建立利用三维重组形态学指标判定胸骨性别来源的方法,并对其判定效果进行评价,考察虚拟骨骼的法医学应用价值。方法应用胸部螺旋CT扫描图像,通过多层面重组法获取胸骨的二维影像,结合容积再现技术得出的三维模型,分别测量胸骨的全长、柄长、体长、柄最大宽、体最大宽、柄最大厚、体最大厚、体上端厚等8项指标,并计算出3个比值指标;筛选出其中有性别差异的指标,建立性别判别方程并评价其判别效果。结果 11个指标的性别差异均具有统计学意义(P0.05),但以胸骨全长、胸骨体长、体最大厚及柄最大宽的判别效果较好。所建方程组中,全指标、长度指标判别方程及逐步判别方程的判别率较高,88.6%的判定率与近期国外有关性别判定研究的报道结果基本一致。结论应用多层螺旋CT三维重组技术判定国人胸骨性别具有较高的可行性和准确性,该技术有望应用于胸骨年龄推断及其它虚拟骨骼的研究。     

Testing a Novel 3D Printed Radiographic Imaging Device for Use in Forensic Odontology

There are specific challenges related to forensic dental radiology and difficulties in aligning X‐ray equipment to teeth of interest. Researchers used 3D printing to create a new device, the combined holding and aiming device (CHAD), to address the positioning limitations of current dental X‐ray devices. Participants (N = 24) used the CHAD, soft dental wax, and a modified external aiming device (MEAD) to determine device preference, radiographer's efficiency, and technique errors. Each participant exposed six X‐rays per device for a total of 432 X‐rays scored. A significant difference was found at the 0.05 level between the three devices (p = 0.0015), with the MEAD having the least amount of total errors and soft dental wax taking the least amount of time. Total errors were highest when participants used soft dental wax—both the MEAD and the CHAD performed best overall. Further research in forensic dental radiology and use of holding devices is needed.     

Towards systematic knowledge building: An anti-crime research and development continuum

This response argues that the National Research Council (NRC) report, while valuable and thorough, would have benefited from conceptualizing evaluation activities along a continuum of knowledge development, with evaluations initially verifying the effectiveness of program concepts, before moving to evaluations of the feasibility and generalizability of anti-crime strategies and, finally, to evaluations of the costs and benefits of implementation of new strategies.

Genetics and genomics of core short tandem repeat loci used in human identity testing

Over the past decade, the human identity testing community has settled on a set of core short tandem repeat (STR) loci that are widely used for DNA typing applications. A variety of commercial kits enable robust amplification of these core STR loci. A brief history is presented regarding the selection of core autosomal and Y-chromosomal STR markers. The physical location of each STR locus in the human genome is delineated and allele ranges and variants observed in human populations are summarized as are mutation rates observed from parentage testing. Internet resources for additional information on core STR loci are reviewed. Additional topics are also discussed, including potential linkage of STR loci to genetic disease-causing genes, probabilistic predictions of sample ethnicity, and desirable characteristics for additional STR loci that may be added in the future to the current core loci. These core STR loci, which form the basis for DNA databases worldwide, will continue to play an important role in forensic science for many years to come.