DNA Analysis Research Articles

The mysteries of DNA preservation in bone: A comparative study of petrous bones and metacarpal epiphyses using ATR-FTIR spectroscopy

A comparative analysis of 26 petrous bones and epiphyses of metacarpals from the Second World War era revealed no significant differences in DNA yield or success in STR typing. This unexpected parity in DNA preservation between the petrous bone, a renowned source of endogenous DNA in skeletal remains, and the epiphyses of metacarpals, which are porous and susceptible to taphonomic changes, is surprising. In this study, we introduced ATR-FTIR spectroscopy as an approach to unravel the correlation between bone molecular structure and DNA preservation. Metacarpals and petrous bones with same taphonomic history were sampled and prepared for DNA analyses. While one portion of the sample was used for DNA analysis, the other underwent ATR-FTIR spectroscopic examination. The normalized spectra and FTIR indices between the epiphyses of metacarpals and petrous bones were compared. Because the taphonomic history of the remains used is relatively short and stable, the ATR-FTIR spectroscopy unveiled subtle structural differences between the two bone types. Petrous bones exhibited higher mineralization, whereas epiphyses contained more organic matter. The unexpected preservation of DNA in the epiphyses of metacarpals can likely be attributed to the presence of soft tissue remnants within the trabeculae. Here observed differences in the molecular structure of bones indicate there are different mechanisms enabling DNA preservation in skeletal tissues.

First report of Botrytis cinerea causing flower blight on macadamia in South Africa

AbstractMacadamia cultivation plays significant role in the economy of South Africa. Despite its importance, the industry grapples with disease‐related challenges, notably flower blight, which threatens substantial economic losses by affecting yield and nut quality. In 2022, diagnostic services at the Agricultural Research Council and the Forestry and Agricultural Biotechnology Institute received macadamia flowers displaying blight symptoms. Employing two methods for fungal isolation, 25 isolates were obtained which were classified into one group based on morphological characteristics. DNA analysis identified the isolates as Botrytis cinerea. The pathogenicity testing was conducted on macadamia flowers to confirm Koch's postulates. This is the first report of B. cinerea affecting Macadamia integrifolia Maiden & Betche in South Africa, underlining its potential threat to the industry.

Culture time to optimize embryo cell-free DNA analysis for frozen-thawed blastocysts undergoing noninvasive preimplantation genetic testing for aneuploidy

To investigate the ideal time in culture to optimize embryo cell-free deoxyribonucleic acid (cfDNA) analysis in frozen-thawed blastocysts undergoing noninvasive preimplantation genetic testing for aneuploidy (PGT-A). Cell-free DNA is released into the spent blastocyst media (spent media) by the embryo. However, the optimal timing to determine maximal cfDNA in the case of frozen-thawed blastocysts undergoing noninvasive PGT-A remains to be elucidated. In this prospective observational study, 135 spent media and corresponding whole blastocysts were collected from January 2021 through March2022. Private fertility clinics. Day-5 frozen-thawed blastocysts were cultured for 8 hours (Day-5 Short) or 24 hours (Day-5 Long), whereas day-6 frozen-thawed blastocysts were cultured for 8 hours (Day-6 Short). The spent media and whole blastocysts were then collected for further analysis. Spent media and whole blastocysts were amplified using whole genome amplification and sequenced using next-generation sequencing. Informativity and concordance rates between cfDNA in spent media and whole blastocyst DNA were compared according to the different times in culture. When comparing time in culture, informativity rates for spent media were significantly higher for Day-5 Long and Day-6 Short (>91%) compared with the Day-5 Short group (<60%). A similar trend was observed for cases with and without a previous PGT-A. Regarding blastocyst expansion grade, informativity rates were lower on Day-5 Short compared with Day-5 Long and Day-6 Short, regardless of expansion degree. This decrease was significant for Gardner-grade expansion grades 3, 4, and 5-6. In addition, for a similar time in culture, the grade of expansion did not have an impact on the informativity rates. For concordance rates, no significant differences were observed among the 3 groups. In all cases, concordance rates were 90.5% for Day-5 Short, 93.6% for Day-5 Long, and 92.3% for Day-6 Short. No impact of the expansion grade was observed on concordance rates. Noninvasive PGT-A in frozen-thawed blastocysts yields very high concordance rates with whole blastocysts, possibly limiting the need for invasive PGT-A and making it available for a wider range of patients.

Identifying associations of human surfactant protein A SNPs and allelic variants with retinopathy of prematurity

Retinopathy of prematurity (ROP) is the primary cause of childhood blindness worldwide. Previous studies showed that allelic single nucleotide polymorphic (SNP) variants of the human surfactant protein A genes (SP-A1, SP-A2) are associated with the development of respiratory distress syndrome and bronchopulmonary dysplasia (BPD). In this work, we hypothesized that SP-A SNPs and allelic variants are associated with altered risk of ROP in prematurely born infants. To test this hypothesis, we used a modified PCR-based method to detect variants of the SP-A1 and SP-A2 genes in a cohort of preterm infants. Infants born at &lt;32 weeks’ gestation and/or&lt;1500 grams were enrolled. Scavenged blood samples or cheek swabs were collected and DNA was extracted using the QIAamp DNA Mini Kit. We measured SNPs in SP-A1 and SP-A2 using Taqman probes for allelic discrimination by PCR or PCR/RFLP/sequencing method. Associations of SP-A1 and SP-A2 SNP allele frequencies with ROP and BPD were determined using chi-square and logistic regression analyses. Our results show that, of the total patient cohort (n=59), 42 patients had a BPD diagnosis (23 with ROP and 36 without ROP). DNA analysis of these samples identified associations of SP-A1 and SP-A2 SNPs and variants with ROP. For SP-A1, the following SNP associations were found for ROP using chi-square: rs1059047 (p=0.44), rs1136450 (p=0.63), rs1136451 (p=0.21), rs1059057 (p=0.52). For SP-A2, the following SNPs associations were identified with ROP: rs1059046 (p=0.51), rs17886395 (p=0.050), rs1965707 (p=0.031), rs1965708 (p=0.46). Logistic regression analysis indicated an association of ROP with the SP-A1 6A2 variant (p-value = 0.47, OR (6A2/*)=0.8036, 95%CI [0.2299 - 2.8082], OR (6A2/6A2) = 0.4327, 95%CI [0.1063 - 1.7615]), which conferred protection, as well as an association of ROP with SP-A2 6A2 (p-value = 0.0055) with decreased risk when 1A2 variant is present. We conclude that SP-A1/SP-A2 polymorphisms are associated with the presence of ROP in infants with BPD. The 6A4 SP-A1 and SP-A2 1A2 appear to confer protection in babies against ROP. Further studies will determine the mechanisms of this protective effect. Indiana University, University of Chicago Metcalf Internship Program Grant, The University of Oklahoma Health Sciences Center. This is the full abstract presented at the American Physiology Summit 2024 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.

Evaluation of post-PCR purification methods and subsequent optimisation of the MinElute® PCR Purification Kit for low input DNA samples amplified with PowerPlex® 21

Weak and partial DNA profiles are commonly encountered within forensic casework due to amplification of low DNA input samples. One option for increasing allelic detection in such samples is the purification of amplified PCR product using commercially available column-based methods. In this study, four commercially available post-PCR purification methods, QIAGEN MinElute®, Independent Forensics Amplicon™ Rx, Millipore Microcon® and Thermo Fisher Scientific ExoSAP-IT™ were evaluated, comparing the quality of PowerPlex® 21 DNA profiles produced to the standard DNA profile generated prior to purification. An increased detection of alleles above the analytical threshold was observed following purification with the MinElute®, Amplicon™ Rx and Microcon® methods, allowing informative DNA profiles to be recovered using as little as 8 pg DNA. However, post-PCR purification using the ExoSAP-IT™ kit was unsuccessful, with no alleles detected above analytical threshold in samples with ≤16 pg DNA. The MinElute® kit was selected for optimisation on the basis of DNA profile quality, including increased detection of alleles and minimal artefacts. The MinElute® method was optimised by evaluating the number of washes and final elution buffer volume, resulting in a further increase in detection of alleles by reducing the elution buffer volume. Overall, this study showed that PowerPlex® 21 DNA profiles from low input DNA can be successfully enhanced by employing the MinElute® post-PCR purification method.

Recovery of DNA from acetaminophen exploring physical state and sampling methods

Research into the recovery of DNA from illicit drug samples has shown it is possible to get forensically useful profiles from such substrates. However, it is not yet known if the different physical states that drugs can be found in influences the quantity and quality of DNA that can be recovered or what is the best sampling method to adopt for powdered samples. This research used acetaminophen in four different states – large crystalline, powder, in solution, or residue – to determine the efficacy of current DNA technology in recovery and analysis of the resulting sample. Five replicates of each were prepared. Human blood was deposited on or mixed with the drug and left for 1 hour. The surface of the drug was sampled by wet/dry swabbing (where appropriate), or the entire sample was deposited in a tube, and the DNA then extracted using DNA-IQ™. The amount of DNA recovered (ng), degradation index, number of PCR cycles (Ct) required for the IPC to reach threshold, number of alleles in the DNA profile and average peak height (APH) were assessed. All samples, irrespective of the physical state they were collected from, returned full DNA profiles that corresponded to the DNA profile of the blood donor, with no degradation or inhibition detected. It was also found the wet/dry swabbing method returned higher levels of DNA than inclusion of the entire sample into the tube for powdered acetaminophen and the appropriate method to use will be dependent on casework circumstances. The findings of this research further develops our understanding of the recovery of DNA from drugs, and supports the need for further investigation to understand under what conditions DNA can be recovered from illicit substances.

Developments in DNA analysis and forensic procedures legislation: comparisons across Australian jurisdictions

ABSTRACT Forensic procedures legislation guides the collection and analysis of forensic material, including DNA, and the establishment of DNA databases. It requires the balancing of several competing interests, such as identifying and convicting those who commit criminal offences, ensuring that individuals in Australian society are not subjected to unlawful or unfair treatment, and preserving individual privacy and civil liberties. With increased data-sharing arrangements across jurisdictions, harmonising forensic procedures legislation becomes pivotal. Reviews published in 2003 and 2010 established the existence of discrepancies and inadequacies in the forensic procedures legislation of Australian jurisdictions. Since then, jurisdictions have made amendments to their own legislation that may further reduce the extent to which harmonisation exists across jurisdictions. This study, therefore, aimed to examine the legislative amendments made between 2010 and 2022 to the forensic procedures legislation of Australia’s Commonwealth, States and Territories and compare current legislation with that of the Commonwealth. The findings from the comparative analysis highlight key elements of current legislation that represent a significant departure from the protection of individual rights to privacy and civil liberties. The article then discusses the potential implications of these departures and suggests some directions for further research, legislative review, and critical analysis.

Harnessing the intragenomic variability of rRNA operons to improve differentiation of Vibrio species

Although the 16S rRNA gene is frequently used as a phylogenetic marker in analysis of environmental DNA, this marker often fails to distinguish closely related species, including those in the genus Vibrio. Here, we investigate whether inclusion and analysis of 23S rRNA sequence can help overcome the intrinsic weaknesses of 16S rRNA analyses for the differentiation of Vibrio species. We construct a maximum likelihood 16S rRNA gene tree to assess the use of this gene to identify clades of Vibrio species. Within the 16S rRNA tree, we identify the putative informative bases responsible for polyphyly, and demonstrate the association of these positions with tree topology. We demonstrate that concatenation of 16S and 23S rRNA genes increases the number of informative nucleotide positions, thereby overcoming ambiguities in 16S rRNA-based phylogenetic reconstructions. Finally, we experimentally demonstrate that this approach considerably improves the differentiation and identification of Vibrio species in environmental samples.

Developmental validation of the ForenSeq® Kintelligence kit, MiSeq FGx® sequencing system and ForenSeq Universal Analysis Software

Forensic Investigative Genetic Genealogy, a recent sub discipline of forensic genomics, leverages the high throughput and sensitivity of detection of next generation sequencing and established genetic and genealogical approaches to support the identification of human remains from missing persons investigations and investigative lead generation in violent crimes. To facilitate forensic DNA evidence analysis, the ForenSeq® Kintelligence multiplex, consisting of 10,230 SNPs, was developed. Design of the ForenSeq Kintelligence Kit, the MiSeq FGx® Sequencing System and the ForenSeq Universal Analysis Software is described. Developmental validation in accordance with SWGDAM guidelines and forensic quality assurance standards, using single source samples, is reported for the end-to-end workflow from library preparation to data interpretation. Performance metrics support the conclusion that more genetic information can be obtained from challenging samples compared to other commercially available forensic targeted DNA assays developed for capillary electrophoresis (CE) or other current next generation sequencing (NGS) kits due to the higher number of markers, the overall shorter amplicon sizes (97.8% <150 bp), and kit design. Data indicate that the multiplex is robust and fit for purpose for a wide range of quantity and quality samples. The ForenSeq Kintelligence Kit and the Universal Analysis Software allow transfer of the genetic component of forensic investigative genetic genealogy to the operational forensic laboratory.

Optimizing Bangkaew dog breed identification using DNA technology.

The Bangkaew dog is an indigenous dog breed in the Phitsanulok province of Thailand. This breed is recognized by the Fédération Cynologique Internationale (FCI), a global canine organization. The unique traits of the Bangkaew breed lead to purebred selection for breeding, while only their traits and pedigree from parental history are recorded. Determination of the risk of inbreeding depression and the origin of unknown DNA profiles is essential due to the challenges in predicting puppy characteristics, which are crucial for breed management and conservation. This study aimed to emphasize that current allelic frequency data for the Bangkaew dog breed must be considered for precise individual identification. Approximately 82 Bangkaew dogs from various Thai localities were studied using 15 microsatellite markers for genotypic monitoring and individual identification. Maternal genetic inheritance was assessed via mtDNA D-loop analysis. The results revealed high genetic diversity in the Bangkaew breed, indicating low potential for inbreeding. We also found that using a 15 loci microsatellite panel was effective for the identification of Bangkaew dogs. The optimized 10 loci microsatellite genotyping panel developed in this study presents improved identification testing efficiency, promoting both time- and cost-effectiveness. Analysis of microsatellite DNA markers in Bangkaew dogs using an optimized panel of 10 loci selected from 15 loci effectively facilitated individual identification. This approach not only enhances time and cost efficiency, but also provides accurate allelic frequency estimates, which are crucial for the realistic evaluation of DNA evidence.

낙태죄 비범죄화 이후

Access to safe abortion is a key aspect of sexual and reproductive rights. However, even after the decriminalization of abortion in 2021, abortion care has not been normalized in South Korea. This study analyzes the current state of medical assistance and access to abortion after decriminalization, with a focus on abortion due to sexual violence, keeping in mind that abortion, even before decriminalization, was not punished and it was included in the government’s medical expenses subsidy. In-depth interviews with sexual violence victim support workers and healthcare providers revealed that while decriminalization has improved access to care and information, many interviewees did not see any significant changes in medical support for abortion for sexual violence victims. Both support organizations and providers often felt that “abortion has not been legal yet” and as a result, they felt that they were under pressure to make sure that a pregnancy was the result of sexual violence in order to justify providing assistance to victims. As a result they tend to impose strict requirements on victims for providing medical assistance for them. In some cases, support organizations required a complaint of sexual violence, DNA matching of the perpetrator and the fetus, a case conference decision by an external advisor, or parental consent for adolescent victims as prerequisites for medical assistance, which made it impossible for victims to receive assistance. In addition, the Ministry of Gender Equality and Family’s guidelines discourage supporting organizations to apply for assistance as the guidelines stress the possibility of being accused of false accusation and redeeming of support money. It was also pointed out that the guidelines do not specify whether to support medical expenses for pregnancies resulting from prostitution, so the possibility of support is ambiguous. The most difficult thing with regard to supporting abortion was to find a medical professional who would provide medical care ad abortion to victims. Despite being a victim of sexual violence, women were frequently rejected by healthcare providers and were not officially provided with information on which hospitals could provide abortion care. The experiences of being rejected by medical professionals or support organizations in itself caused worse stigma and pain of abortion for victims. Even at hardly found hospitals, it was often the case that hospitals refuse abortion operation expenses be covered by medical insurance and charged high fees while abortions were mostly performed surgically. Parental consent was required for all processes of investigation and medical assistance, leading adolescent victims to abandon their requests for assistance because they were unable to inform their guardians about their problems. There were also challenges in ensuring the right to self-determination for victims with developmental disabilities. Secondary victimization has been found occurred during the medical assistance, investigation, and victim assistance processes. Post-abortion support for contraception was limited, and counseling and follow-up support were scarce. Since the decriminalization of abortion, amendments to the abortion law were submitted to the National Assembly which maintain the punishment of abortion but limiting them based on respective of reasons. The Ministry of Women and Family Affairs’ policy regarding abortion is that it will only fund abortions in some cases of sexual violence. However, the results of the in-depth interviews show that no support for abortion is possible while criminalizing or stigmatizing it in principle. Given the above-mentioned interview results, this study recommends the measures to ensure the right to abortion for sexual violence victims.

Exploration of genetic variability in Garcinia [&lt;i&gt;Garcinia gummi-gutta&lt;/i&gt; L.(Robson)] germplasm based on growth, yield and quality traits

Eleven Garcinia germplasm along with local check of Pechiparai were evaluated and underwent principal component analysis to assess genetic divergence and variation patterns during 2019 to 2022. The first two principal components, contributing significant Eigen values, explained 71.20% of the total variability. The Acc. Gg 9 was the top performer, exhibiting favourable yield and growth traits with lower pest and disease incidence, high biochemical compounds viz., hydroxy citric acid and tartaric acid compared to local check. Cluster analysis revealed four major clusters, offering diversity for breeding programs. Correlation studies highlighted traits such as number of fruits per tree, rind thickness, and tartaric acid showing significant positive correlations with yield per tree. Selection based on identified key traits was deemed crucial for enhancing effectiveness. Additionally, DNA fingerprinting analysis indicated the potential use of RAPD markers (OPA03570) for differentiating Kudampuli cultivar PPI (K) 1 from the local check. Overall, the present investigation provides insights into optimizing Garcinia breeding programs, emphasizing trait-based selection and DNA fingerprinting for varietal differentiation.

Studying the Role of Soil Factors on Degree of Degradation of DNA of Human Remains

Generating a DNA profile using autosomal Short Tandem Repeat (STR) DNA allele from skeletal remains is a crucial step in the identification process for mass disaster and unidentified person situations. The capacity to extract substantial amounts of relevant DNA from bones, which were highly durable biological components that can withstand soil elements and climatic conditions over long periods of time, would be advantageous. 70 femur male bone samples were collected from two different environmental mass graves (Al-Mahaweel massgrave) in Babil governorate and (Al-Saqlawiya massgrave) in Al-Anbar governorate in Iraq. The DNA from bone samples extracts were assessed by capillary electrophoresis and a standardized set of short tandem repeat (STR) loci are analyzed using Mutiplex 21 STR loci System to allow human identification by matching the profile of the dead individuals with their relatives. From these two different sites; soil samples were collected to analyze and study the different environmental factors and find a relation between the degree of preservation or degradation with these factors like temperature, humidity, salinity, PH and texture of soil and find how these factors can affect on pattern of degradation of DNA profiles. The average of the percentage of the detected alleles in each locus in the two sites; were 87\% for Al-Mahaweel site and 32\% for Al- Saqlawiya site. we found that clay soil, low salt concentration, PH slightly alkaline and low humidity for Al-Mahaweel site; all participate in DNA preservation while the chalky and very high salt concentration of Al- Saqlawiya site soil; all participate in DNA degradation. Predicting the effect of these factors on the quality of the DNA profiles can be helpful in finding better solutions for many complications that may face the process of analyzing samples and finding sufficient informative profiles.

Cutibacterium acnes-derived extracellular vesicles promote tumor growth in renal cell carcinoma.

Bacterial flora are present in various parts of the human body, including the intestine, and are thought to be involved in the etiology of various diseases such as multiple sclerosis, intestinal diseases, cancer, and uterine diseases. In recent years, the presence of bacterial 16S rRNA genes has been revealed in blood, which was previously thought to be a sterile environment, and characteristic blood microbiomes have been detected in various diseases. However, the mechanism and the origin of the bacterial information are unknown. In this study, we performed 16S rRNA metagenomic analysis of bacterial DNA in serum extracellular vesicles from five healthy donors and seven patients with renal cell carcinoma and detected Cutibacterium acnes DNA as a characteristic bacterial DNA in the serum extracellular vesicles of patients with renal cell carcinoma. In addition, C. acnes DNA was significantly reduced in postoperative serum extracellular vesicles from patients with renal cell carcinoma compared with that in preoperative serum extracellular vesicles from these patients and was also detected in tumor tissue and extracellular vesicles from tumor tissue-associated microbiota, suggesting an association between C. acnes extracellular vesicles and renal cell carcinoma. C. acnes extracellular vesicles were taken up by renal carcinoma cells to enhance their proliferative potential. C. acnes extracellular vesicles also exhibited tumor-promoting activity in a mouse model of renal cancer allografts with enhanced angiogenesis. These results suggest that extracellular vesicles released by C. acnes localized in renal cell carcinoma tissues act in a tumor-promoting manner.

Exploration of Genome-Wide Recombination Rate Variation Patterns at Different Scales in Pigs.

Meiotic recombination is a prevalent process in eukaryotic sexual reproduction organisms that plays key roles in genetic diversity, breed selection, and species evolution. However, the recombination events differ across breeds and even within breeds. In this study, we initially computed large-scale population recombination rates of both sexes using approximately 52 K SNP genotypes in a total of 3279 pigs from four different Chinese and Western breeds. We then constructed a high-resolution historical recombination map using approximately 16 million SNPs from a sample of unrelated individuals. Comparative analysis of porcine recombination events from different breeds and at different resolutions revealed the following observations: Firstly, the 1Mb-scale pig recombination maps of the same sex are moderately conserved among different breeds, with the similarity of recombination events between Western pigs and Chinese indigenous pigs being lower than within their respective groups. Secondly, we identified 3861 recombination hotspots in the genome and observed medium- to high-level correlation between historical recombination rates (0.542~0.683) and estimates of meiotic recombination rates. Third, we observed that recombination hotspots are significantly far from the transcription start sites of pig genes, and the silico-predicted PRDM9 zinc finger domain DNA recognition motif is significantly enriched in the regions of recombination hotspots compared to recombination coldspots, highlighting the potential role of PRDM9 in regulating recombination hotspots in pigs. Our study analyzed the variation patterns of the pig recombination map at broad and fine scales, providing a valuable reference for genomic selection breeding and laying a crucial foundation for further understanding the molecular mechanisms of pig genome recombination.

Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.

Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by pronounced polymorphisms in clinical manifestations and the absence of clear phenotype-genotype correlation. The objective of this study was to conduct a comprehensive molecular-genetic and clinical analysis to verify the diagnosis of OI in six Russian patients with genetic variants in the COL1A1 and COL1A2 genes. Clinical and laboratory data were obtained from six OI patients who were observed at the Medical Genetics Center in Saint Petersburg from 2016 to 2023. Next-generation sequencing on MGISEQ G400 (MGI, China) was used for DNA analysis. The GATK bioinformatic software (version 4.5.0.0) was used for variant calling and hard filtering. Genetic variants were verified by the direct automatic sequencing of PCR products using the ABI 3500X sequencer. We identified six genetic variants, as follows pathogenic c.3505G>A (p. Gly1169Ser), c.769G>A (p.Gly257Arg), VUS c.4123G>A (p.Ala1375Thr), and c.4114A>T (p.Asn1372Tyr) in COL1A1; and likely pathogenic c.2035G>A (p.Gly679Ser) and c.739-2A>T in COL1A2. In addition, clinical cases are presented due to the presence of the c.4114A>T variant in the COL1A2 gene. Molecular genetics is essential for determining different OI types due to the high similarity across various types of the disease and the failure of unambiguous diagnosis based on clinical manifestations alone. Considering the variable approaches to OI classification, an integrated strategy is required for optimal patient management.

Combining Diamond™ Nucleic Acid Dye with cyanoacrylate fuming for detection of fingermarks and visualising latent DNA

ABSTRACT Detection and identification of both fingermarks and latent DNA are common practices in forensic science, aiming to obtain crucial identification evidence in various types of criminal investigations. This study seeks to enhance cross-disciplinary research by combining important aspects of fingermark detection and recovery with evolving techniques for latent DNA detection. The goal is to produce fingermarks suitable for comparison that, when observed under the correct conditions, can utilize the fluorescent properties of the Diamond™ Nucleic Acid Dye to provide information on usability for DNA analysis. This preliminary research specifically focused on determining the most effective combination of Diamond™ Dye with cyanoacrylate fuming. The research demonstrated that pre-treatment of the fingermark before cyanoacrylate fuming could produce suitable fingermarks with observable friction ridge details, while simultaneously allowing for the visualization of DNA.

Sequencing DNA sampling and fingerprint development using DNA-free consumables: fingermark obliteration versus DNA recovery is not a zero-sum game

ABSTRACT The dual recovery of DNA samples and fingerprints from touched objects and surfaces is highly desirable for many criminal investigations as it provides greater probative value, particularly compared to relying solely on DNA evidence, which may be present due to secondary transfer or unresolvable due to a high number of contributors. Despite this, DNA sampling is generally given priority over fingerprint examination to minimize contamination even though the mechanical action of DNA sampling is generally thought to obliterate fingerprint residues. This study aimed to strengthen decision-making around sequencing fingerprints and DNA examinations by assessing whether any fingerprint ridge details remained after first sampling for DNA and whether DNA-free fingerprint brushes and powders were fit for purpose. The results demonstrated that DNA sampling and powder fingerprint development are not necessarily a zero-sum game. High-quality fingerprints were developed using DNA-free consumables without any contamination, and DNA sampling using tapelifts was shown to leave sufficient latent material to develop a fingerprint suitable for comparison whilst also generating a high-quality DNA profile. This represents valuable insight for informing evidence-based decision-making by forensic examiners for the optimal strategy for sequential examination and collection of critical fingerprint and DNA evidence.

Video analysis of human and animal interactions for possible use in forensic human DNA identification

ABSTRACT Pets, such as cats and dogs, are present in the majority of households and may, in certain circumstances, be a relevant element in criminal investigations. Dogs, in particular, may interact with an intruder resulting in an exchange of trace evidence between the two. To better understand these interactions, fifty videos of dog contacts with an intruder were analysed, noting the location and the type of an interaction. It was found that dogs were more likely to instigate the interaction, jumping on the intruder, and were most commonly contacted on the head and back.

The Rapid Evaluation of Down Syndrome With Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR): A Pilot Study Among the Population in Eastern Uttar Pradesh, India.

Background and objective Down syndrome (DS) is characterized by the presence of an additional chromosome; it is a typical chromosomal disorder causing intellectual disability in individuals. The diagnostic process for DS often involves conventional karyotyping, which can be time-consuming. Trisomy 21 and other chromosomal abnormalities may now be quickly and accurately diagnosed using quantitative fluorescence polymerase chain reaction (QF-PCR). In light of this, this study aimed to investigate chromosomal abnormalities in DS using conventional karyotyping and QF-PCR among thepopulation in easternUttar Pradesh, India. Methods Blood samples from 40individuals with clinically diagnosed DS were collected. Conventional karyotyping involved standard cytogenetic techniques, while QF-PCR utilized DNA extraction and analysis with chromosome-specific short tandem repeat (STR) markers. Results Various distinct physical characteristics were observed in the DS individuals, such as mongoloid slant and low-set ears. Karyotyping and QF-PCR analyses revealed different chromosomal configurations associated with DS trisomy 21, with additional chromosomal abnormalities found in some individuals, including partial monosomy 18 and mosaic trisomy 21. However, in a few cases, neither karyotyping nor QF-PCR revealed any abnormalities. Conclusions The study demonstrated that QF-PCR is a reliable and rapid method for diagnosing DS, providing results within 24 hours. This approach allows for the simultaneous diagnosis of a large number of samples and reduces the time required to obtain results. In the diagnostic procedure for DS, we believe QF-PCR will prove to be a usefultool. Furthermore, therapeutic interventions based on their clinical traits and molecular karyotyping can enhance the quality of life of people with DS.