Contactless Size Reference in Forensic Photography-Design and Verification of the Novel FreeRef-1 System.

In photographs of evidence in forensic investigations, physical size references (e.g., rulers or stickers) are often placed next to a trace to allow us to take measurements from photos. However, this is laborious and introduces contamination risks. The FreeRef-1 system is a contactless size reference system that allows us to take forensic photographs without having to be close to the evidence, and allows photographing under large angles without losing accuracy. The FreeRef-1 system performance was assessed using technical verification tests, inter-observer checks and user tests with forensic professionals. The results show that the measurements taken with photos using the FreeRef-1 system were at least as accurate as those taken using conventional techniques. Furthermore, with the FreeRef-1 system, even photographs taken under strongly oblique angles provided accurate measurements. The results suggest that the FreeRef-1 system will facilitate photographing evidence even in hard-to-reach places, such as under tables and on walls and ceilings, while increasing the accuracy and speed.

Development a multiplex panel of AISNPs, multi-allelic InDels, microhaplotypes, and Y-SNP/InDel loci for multiple forensic purposes via the NGS.

Recently, next generation sequencing has shown the promising application value in forensic research. In this study, we constructed a multiplex amplification system of different molecular genetic markers based on the previous selected ancestry informative single nucleotide polymorphisms (SNPs), multi-allelic insertion/deletion (InDel) polymorphisms, microhaplotypes, and Y-chromosomal SNP/InDel loci, and evaluated forensic efficiencies of the system in Chinese Shaanxi Han, Chinese Hui, and Chinese Mongolian groups via the next generation sequencing platform. Ancestry information analyses of Shaanxi Han, Hui, and Mongolian groups revealed that most Mongolian individuals could be differentiated from Shaanxi Hans and Huis based on the selected ancestry informative SNPs. Multi-allelic InDels and microhaplotypes showed the multiple allele variations and possessed relatively high genetic polymorphisms in these three groups, indicating these loci could provide higher forensic efficiencies for individual identification and paternity testing. Based on Y-chromosomal SNPs, different haplogroup distributions were observed among Shaanxi Han, Hui, and Mongolian groups. In conclusion, the self-developed system could be used to simultaneously carry out the individual identification, paternity analysis, mixture deconvolution, forensic ancestry information analysis, and Y-chromosomal haplogroup inference, which could provide more valuable investigative clues in forensic practices.

DNA banking, its current awareness and national status in biomedical research in India, a survey.

A Biobank/Biorepository is an organized collection of resources that can be accessed to retrieve biological material and data for research purpose. Human specimen repositories (adult and paediatric) take lead amongst the various types of biorepositories. Patient's bio samples are a rich source of genetic information and therefore can form the basis of diagnostics, forensics and multidimensional disciplines of biomedical research. The advent of molecular techniques and the technological upsurge in the management of genetic resources has facilitated the human DNA sampling and data collection leading to the emergence of DNA banking. DNA banking has paved a new path in precision oncology and personalized medicine. This article highlights the current scenario concerning the general awareness, scientific consciousness and current national and international practices being initiated and in practice for the establishment of bio banking facilities particularly DNA bio banking.

X-chromosomal STRs for genetic composition analysis of Guizhou Dong group and its phylogenetic relationships with other reference populations.

BACKGROUND: X-chromosomes show a specific genetic mode, which makes genetic markers on the X-chromosome play crucial roles in forensic research and human evolution. Dong group, one of 55 minority groups in China, live in Guizhou, Guangxi, and Hunan provinces. Even though some genetic data of Y chromosomal short tandem repeats (STRs) and autosomal insertion/deletion polymorphism (InDels) in Dong groups have been reported, there is little research about X-STRs in the Dong group. AIM: Purposes of this study are to investigate allelic distributions and forensic statistical parameters of 19 X-STRs in the Guizhou Dong group, and explore the genetic composition of the Guizhou Dong group and its phylogenetic relationships with other reference populations. SUBJECTS AND METHODS: Five hundred and seven Dongs (272 males and 235 females) living in Guizhou province were typed using the AGCU X19 STR kit. Allelic frequencies and forensic parameters of 19 X-STRs in the Guizhou Dong group were calculated. Population genetic analyses of Guizhou Dong and another 17 reference populations were conducted using DA genetic distances, phylogenetic tree, principal component analysis, and multidimensional scaling. RESULTS: A total of 230 alleles of 19 X-STRs were identified in all Dongs. The frequencies of 19 loci ranged from 0.0013 to 0.6838. The values for cumulative power of discrimination in males (PDM), cumulative power of discrimination in females (PDF), and four different kinds of mean exclusion chance (MEC_Kruger, MEC_Kishida, MEC_Desmarais, and MEC_Desmarais_du) for the 19 X-STRs in all individuals were 0.999999999999761, 0.9999999999999999999993951, 0.999999964841617, 0.999999999997261, 0.999999999997297, and 0.999999993623172, respectively. Besides, genetic polymorphisms of seven linkage clusters ranged from 0.9381 to 0.9963. In addition, these seven groups showed high polymorphism information content (PIC), PDM, PDF, MEC_Kruger, MEC_Kishida, MEC_Desmarais, and MEC_Desmarais_duo. Population genetic analyses of Guizhou Dong and another 17 reference populations showed that the Guizhou Dong group had close genetic relationships with surrounding Tai-Kadai-speaking, Hmong-Mien-speaking, and Han groups. CONCLUSION: Nineteen X-STRs displayed high genetic diversities and could be employed for forensic personal identification and paternity analysis in the Guizhou Dong group. Close genetic affinities between Guizhou Dong and surrounding populations were observed based on the 19 X-STRs in 17 reference populations.

Thanatometabolomics: introducing NMR-based metabolomics to identify metabolic biomarkers of the time of death.

INTRODUCTION: Death is the permanent cessation of the critical functions of the organism as a whole. However, the shutdown of a complex biological organism does not abruptly terminate at time of death. New high-throughput technologies allow the systematic investigation of the biochemical modulations occurring after death. Recent genomics studies have demonstrated that genes remain active after death, triggering upregulation of some genes and initiating feedback loops. These genes were mostly involved in pathways related to immunity, inflammation and cancer. These genetic modulations suggest many biochemical events persist after death, which can be captured using a metabolomics approach. OBJECTIVES: This proof of concept work aimed to determine whether NMR spectroscopy could identify metabolomics changes occurring after death, and characterise the nature of these metabolomics modulations. METHODS: High-resolution 1H-NMR spectroscopy was applied to six biological matrices: heart, kidney, liver, spleen, skin and white adipose tissue of ten adult mice at three different type points. RESULTS: Forty-three metabolites were associated with post mortem metabolomics modulations. Kidney, heart and spleen showed the highest metabolic perturbations. Conversely, skin and white adipose tissue were the least altered matrices. Early metabolic modulations were associated with energy metabolism and DNA synthesis, by contrast, late metabolomics modulations were associated with microbial metabolism. CONCLUSIONS: NMR has proven potential to determine the time of death based on post-mortem metabolomics modulations. This could be useful in the context of transplants, forensic studies and as internal quality control in metabolomics studies. Further investigations are required to validate these findings in humans in order to determine which compounds robustly reflect post-mortem metabolic fluctuations to accurately determine the time of death.

Animal Models in Forensic Science Research: Justified Use or Ethical Exploitation?

A moral dilemma exists in biomedical research relating to the use of animal or human tissue when conducting scientific research. In human ethics, researchers need to justify why the use of humans is necessary should suitable models exist. Conversely, in animal ethics, a researcher must justify why research cannot be carried out on suitable alternatives. In the case of medical procedures or therapeutics testing, the use of animal models is often justified. However, in forensic research, the justification may be less evident, particularly when research involves the infliction of trauma on living animals. To determine how the forensic science community is dealing with this dilemma, a review of literature within major forensic science journals was conducted. The frequency and trends of the use of animals in forensic science research was investigated for the period 1 January 2012-31 December 2016. The review revealed 204 original articles utilizing 5050 animals in various forms as analogues for human tissue. The most common specimens utilized were various species of rats (35.3%), pigs (29.3%), mice (17.7%), and rabbits (8.2%) although different specimens were favored in different study themes. The majority of studies (58%) were conducted on post-mortem specimens. It is, however, evident that more needs to be done to uphold the basic ethical principles of reduction, refinement and replacement in the use of animals for research purposes.

Polish forensic medicine A.D. 2016 - report of the National Consultant.

The aim of the study was to present the current state and basis of functioning of an academic model of forensic expert activities in Poland and perspectives of their further development. The study material included information obtained from a preliminary survey among regional consultants within the ongoing activities of the national consultant team. The recently completed period of research infrastructure support within the policy of coherence of the European Union contributed to significant advances in scientific-educational potential of the majority of university forensic medicine centres. However, the improved educational base and purchases of new diagnostic devices were not associated with a considerable increase in staff resources of individual units, which finally decides about the renown of the entire discipline. It is necessary to undertake initiatives to highlight the importance of forensic medicine as a separate medical field and to increase the number of physicians starting specialist trainings. A highly profiled nature of the speciality necessitates cooperation with other centres and receptiveness to clinical fields. The establishment of various forms of cooperation is a measure of optimal use of equipment and stimulation of multi-centre research.

Developmental Validation of the Novel Five-Dye-Labeled Multiplex Autosomal STR Panel and Its Forensic Efficiency Evaluation.

Short tandem repeats (STRs) are the most frequently used genetic markers in forensic genetics due to their high genetic diversities and abundant distributions in the human genome. Currently, the combined DNA index system is commonly incorporated into various commercial kits for forensic research. Some novel STRs that are different from the combined DNA index system were not only used to assess complex paternity cases but also could provide more genetic information and higher forensic efficiency in combination with those commonly used STRs. In this study, we validated forensic performance of a novel multiplex amplification STR panel to evaluate its sensitivity, species specificity, forensic application values, and so on. Obtained results revealed that the kit showed high sensitivity, and the complete allelic profile could be observed at 0.125 ng DNA sample. In addition, the kit possessed high species specificity, good tolerance to common inhibitors, and accurate genotyping ability. More importantly, STRs out of the kit displayed high discrimination power and probability of exclusion. To sum up, the novel kit presented in this study can be viewed as a promising tool for forensic human identification and complex paternity analysis.

Developmental Validation of a Rapidly Mutating Y-STR Panel Labeled by Six Fluoresceins for Forensic Research.

The male-specific region of the human Y chromosome is a useful genetic marker for genealogical searching, male inheritance testing, and male DNA mixture deconvolution in forensic studies. However, the Y chromosomal short tandem repeats (Y-STRs) are difficult to distinguish among related males due to their low/medium mutation rate. In contrast, rapidly mutating (RM) Y-STRs exhibit unusually high mutation rates and possess great potential for differentiating male lineages. In this study, we developed a novel Y-STRs multiplex amplification assay of 32 RM Y-STRs by fragment analysis using six dye-labeled technologies (FAM, HEX, TAMRA, ROX, VIG, and SIZ). The development and the validation of the kit were carried out in accordance with the Scientific Working Group guidelines on DNA Analysis Methods. Identical allelic profiles of the 32 RM Y-STRs using a DNA 9948 sample as the positive control could be observed at different concentrations of PCR reagents. Further, the RM Y-STRs did not show cross-reactions with other common animal species, and the developed assay could tolerate interferences from common PCR inhibitors and mixed DNA samples. More importantly, the kit showed relatively high sensitivity and could detect trace DNA samples. Genetic distributions of 32 RM Y-STRs in the Guizhou Han population revealed that these RM Y-STRs showed relatively high genetic diversities. In conclusion, the RM Y-STR assay developed here showed good species specificity, high sensitivity, tolerance to inhibitors, and sample compatibility, which can be viewed as a highly efficient tool with high discrimination capacity for forensic male differentiation.

A Highly Polymorphic Panel Consisting of Microhaplotypes and Compound Markers with the NGS and Its Forensic Efficiency Evaluations in Chinese Two Groups.

Novel genetic markers like microhaplotypes and compound markers show promising potential in forensic research. Based on previously reported single nucleotide polymorphism (SNP) and insertion/deletion (InDel) polymorphism loci, 29 genetic markers including 22 microhaplotypes and seven compound markers were identified. Genetic distributions of the 29 loci in five continental populations, Kazak and Mongolian groups in China were investigated. We found that the expected heterozygosity values of these 29 loci were >0.4 in these populations, indicating these loci were relatively high polymorphisms. Population genetic analyses of five continental populations showed that five loci displayed relatively high genetic variations among these continental populations and could be useful markers for ancestry analysis. In summary, the 29 loci displayed relatively high genetic diversities in continental populations and Chinese two groups and could be informative loci for forensic research.

Forensic dentistry: Adding a perio 'scope' to it!

Human identification during mass disasters using the stereotyped techniques such as fingerprint analysis is a cumbersome task. With a view to overcome this predicament, dental evidence of the deceased has gained importance in the recent years. Various branches of dentistry have augmented forensic research through innumerable scientific contributions. The following narrative review of literature aims to summarize the findings of studies that reported periodontal associations or potential associations that could play a role in forensic research. It is designed to inspire the "perio-society" to lend a helping hand to forensic odontology.

Population Differentiations and Phylogenetic Analysis of Tibet and Qinghai Tibetan Groups Based on 30 InDel Loci.

In recent years, Insertion/Deletion (InDel) polymorphisms have become a hot area of forensic research. In this study, 30 InDel loci were selected to investigate the genetic polymorphisms of Tibetan groups, which are from Tibet Autonomous Region and Qinghai province of China, and explore the genetic relationships between Tibetan groups and other groups. Allele frequencies of the 30 InDel loci ranged from 0.1219 (HLD111) to 0.5609 (HLD57) in the Tibet Tibetan group and 0.1639 (HLD118) to 0.5655 (HLD124) in the Qinghai Tibetan group. The combined power of discrimination, matching probability, and power of exclusion were 0.999999999986, 0.999999988, and 0.9913 in the Tibet Tibetan group, respectively, and 0.99999999999204, 0.9999999796, and 0.9862 in the Qinghai Tibetan group. The results of principal component analysis, phylogenetic tree, and population structure demonstrated that the four Tibetan groups (Tibetan1, Tibetan2, Tibet, and Qinghai Tibetan groups) clustered together and had relatively close genetic relationships with nine Asian groups and then European and Amerindian groups.