Forensic Science International-Genetics最新文献

{"title":"The power of hybridization capture - Illustrated using an expanded gene panel on 100 post mortem samples, focusing on sudden unexplained death","authors":"Daniel Kling ,&nbsp;Emma Adolfsson ,&nbsp;Henrik Gréen ,&nbsp;Anna Gréen","doi":"10.1016/j.fsigen.2024.103160","DOIUrl":"10.1016/j.fsigen.2024.103160","url":null,"abstract":"<div><div>Sudden unexpected death (SUD) is an unexpected event that in many cases are caused by diseases with an underlying genetic background. Forensic molecular autopsy is an approach that has gained wide-spread attention, in part explained by the rapid progress of DNA sequencing techniques. The approach leverages genetic data in combination with medical autopsy findings in post-mortem samples to explore a potential underlying genetic cause of death. Traditional forensic approaches to molecular autopsy focus on a small panel of genes, say &lt;200 genes, with strong association to heart conditions whereas clinical genetics tend to capture entire exomes while subsequently selecting targeted panels bioinformatically. The drop in price and the increased throughput has promoted wider exome sequencing as a viable method to discover genetic variants. We explore a targeted gene panel consisting of 2422 genes, selected based on their broad association to sudden unexplained death. A hybridization capture approach from Twist Bioscience based on double stranded DNA probes was used to target exons of the included genes. We selected and sequenced a total of 98 post-mortem samples from historical forensic autopsy cases where the cause of death could not be unambiguously determined based on medical findings and that had a previous negative molecular autopsy. In the current study, we focus on the performance of the hybridization capture technology on a 2422 gene panel and explore metrics related to sequencing success using a mid-end NextSeq 550 as well as a MiSeq FGx platform. With the latter we demonstrate that our sequence data benefits from 2×300 bp sequencing increasing coverage, in particular, for difficult regions where shadow coverage, i.e. regions outside the probes, are utilized. The results further illustrate a highly uniform capture across the panel of genes (mean fold80=1.5), in turn minimizing excessive sequencing costs to reach sufficient coverage, i.e. 20X. We outline a stepwise procedure to select genes associated with SUD through virtual bioinformatical panels extracting tier of genes with increasing strength of association to SUD. We propose some prioritization strategies to filter variants with highest potential and show that the number of high priority genetic variant requiring manual inspections is few (0–3 for all tiers of genes) when all filters are applied.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103160"},"PeriodicalIF":3.2,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515270","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in forensic genetics: Exploring the potential of long read sequencing","authors":"Marcel Rodrigues Ferreira ,&nbsp;Thássia Mayra Telles Carratto ,&nbsp;Tamara Soledad Frontanilla ,&nbsp;Raphael Severino Bonadio ,&nbsp;Miten Jain ,&nbsp;Silviene Fabiana de Oliveira ,&nbsp;Erick C. Castelli ,&nbsp;Celso Teixeira Mendes-Junior","doi":"10.1016/j.fsigen.2024.103156","DOIUrl":"10.1016/j.fsigen.2024.103156","url":null,"abstract":"<div><div>DNA-based technologies have been used in forensic practice since the mid-1980s. While PCR-based STR genotyping using Capillary Electrophoresis remains the gold standard for generating DNA profiles in routine casework worldwide, the research community is continually seeking alternative methods capable of providing additional information to enhance discrimination power or contribute with new investigative leads. Oxford Nanopore Technologies (ONT) and PacBio third-generation sequencing have revolutionized the field, offering real-time capabilities, single-molecule resolution, and long-read sequencing (LRS). ONT, the pioneer of nanopore sequencing, uses biological nanopores to analyze nucleic acids in real-time. Its devices have revolutionized sequencing and may represent an interesting alternative for forensic research and routine casework, given that it offers unparalleled flexibility in a portable size: it enables sequencing approaches that range widely from PCR-amplified short target regions (e.g., CODIS STRs) to PCR-free whole transcriptome or even ultra-long whole genome sequencing. Despite its higher error rate compared to Illumina sequencing, it can significantly improve accuracy in read alignment against a reference genome or de novo genome assembly. This is achieved by generating long contiguous sequences that correctly assemble repetitive sections and regions with structural variation. Moreover, it allows real-time determination of DNA methylation status from native DNA without the need for bisulfite conversion. LRS enables the analysis of thousands of markers at once, providing phasing information and eliminating the need for multiple assays. This maximizes the information retrieved from a single invaluable sample. In this review, we explore the potential use of LRS in different forensic genetics approaches.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103156"},"PeriodicalIF":3.2,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142484100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phylogeography of Y-chromosome haplogroup I-P37.2 in Serbian population groups originating from distinct parts of the Balkan Peninsula","authors":"Milica Mihajlovic Srejic,&nbsp;Vanja Tanasic,&nbsp;Milica Keckarevic Markovic,&nbsp;Miljana Kecmanovic,&nbsp;Dusan Keckarevic","doi":"10.1016/j.fsigen.2024.103152","DOIUrl":"10.1016/j.fsigen.2024.103152","url":null,"abstract":"<div><div>Genetic structure of the contemporary Serbian population was shaped by a long history of turbulent historical and demographical events. The most important migrations of Serbs towards present day Serbia, in the recent history, occurred between the 15th to the 18th century from the regions of Old Herzegovina and Kosovo and Metohija. Previous haplogroup analysis revealed wide spectrum of main haplogroups, among which haplogroup I-P37.2 was the most frequent one in Serbian population groups originating from the Balkan Peninsula. Within this study 464 Serbian males samples from three geographical regions in the Balkan Peninsula inhabited by Serbs: present-day Serbia, regions of Old Herzegovina and Kosovo and Metohija, previously classified as haplogroup I-P37.2, were genotyped using the 22 Y-single nucleotide polymorphisms (Y-SNPs) in order to determine deeper phylogenetic and phylogeographic analysis of haplogroup I-P37.2. Based on SNP typing all samples in the Old Herzegovina and present-day Serbia dataset and 122 out of 128 samples from Kosovo and Metohija were assigned to haplogroup I-L621. Further SNP typing revealed very similar haplogroup distribution in all datasets, with the predominant haplogroup being I-PH908, followed by haplogroup I-Z17855. Analysis within haplogroup I-PH908 distinguished haplogroup I-FT14506 as the most frequent in the Kosovo and Metohija dataset, while haplogroup I-FT16449 was the most frequent in the Old Herzegovina dataset. In the present-day Serbia dataset, occurrence of haplogroups I-FT14506 and I-FT16449 was almost equal, comprising 40.2 % and 34.4 %, respectively. Low level of differentiation, within haplogroup I-PH908, was detected between all datasets, with the lowest one detected between present-day Serbia and Old Herzegovina datasets and highest one between Kosovo and Metohija and Old Herzegovina datasets. Furthermore, median-joining network analysis and shared haplotypes statistics revealed closer genetic relationship between Old Herzegovina and present-day Serbia haplotypes. Results obtained within this study support the thesis that migrations from historical region of Old Herzegovina and geographical region of Kosovo and Metohija, had great contribution on the present-day Serbian population genetic structure. Furthermore, here presented results, gave insight into geographic distribution of detected haplogroups I-Z17855, I-Y4460, I-PH908, I-Y5596, I-Y4882, I-FT14506, I-FT16449 and I-A5913 and analyzed SNPs, enabling further improvement of the geographic resolution of paternal ancestry inference.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103152"},"PeriodicalIF":3.2,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142407392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Demonstration of potential DNA contamination introduced by laboratory consumables using Fluorescein","authors":"Colby M. Hymus,&nbsp;Penny L. Cooper,&nbsp;Marie S. Rye","doi":"10.1016/j.fsigen.2024.103157","DOIUrl":"10.1016/j.fsigen.2024.103157","url":null,"abstract":"<div><div>The development of increasingly efficient DNA extraction and profiling kits has increased the amount of allelic information obtained from trace DNA samples, but also inadvertently, increased the detection of DNA contamination. This study aimed to evaluate the potential of DNA transfer using fluorescein, fluorescent under an alternate light source, in the use of a range of forensically relevant DNA profiling consumables. An evaluation of two pre-lysis methods adopting three different sample tubes, some with deliberate seal damage, showed the PrepFiler™ Automated Forensic DNA Extraction Kit caused leakage and crusting when the rim of the PrepFiler™ LySep column was compromised, but no leakage was observed under the same conditions using the Investigator STAR Lyse&amp;Prep kit. The AutoLys tube showed minimal leakage using the PrepFiler™ chemistry. A DNA extract tube with an external thread, similar to the AutoLys tube, showed no leakage after fridge or freezer storage. However, it highlighted that a centrifugal spin does not guarantee all the DNA will pool at the base of the tube. A comparison of adhesive plate sealing films to 8-well strip caps for sealing 96-well PCR plates showed the adhesive plate sealing films presented a lower risk of DNA transfer, largely due to the adhesion of dispersed liquid on the sticky surface of the film. Overall, this study highlighted a number of variables that may be considered in the development of more refined contamination minimisation protocols in respect to increased sensitivities of DNA profiling.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103157"},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142420098","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Human identification of single hair shaft using a mass spectrometry mRNA typing system","authors":"Jiajia Fan ,&nbsp;Huan Yu ,&nbsp;Hailing Yang,&nbsp;Yuxin Zhang,&nbsp;Mingming Zhang,&nbsp;Jiaqi Wang,&nbsp;Zidong Liu,&nbsp;Jinding Liu,&nbsp;Zeqin Li,&nbsp;Gengqian Zhang","doi":"10.1016/j.fsigen.2024.103158","DOIUrl":"10.1016/j.fsigen.2024.103158","url":null,"abstract":"<div><div>Hair is one of the most common forms of forensic biological material at various crime scenes. So far, human identification cannot be effectively accomplished with a single telogen hair encountered in forensic casework due to the detection limit. Emerging studies have revealed RNA as a promising biomarker in hair shafts, while the single telogen hair could not be successfully genotyped even after being examined with the recently developed mRNA typing system. MALDI-TOF MS, the matrix-assisted laser desorption/ionization time-of-flight mass spectrometry, enables sensitive and accurate measurement of DNA products. To address this problem and further develop the analysis technology of hairs, we established a mass spectrometry system for human identification based on a single hair shaft using 25 polymorphic SNPs located on 18 mRNA molecules (<em>KRT31, RFK, KRT86, KRT35, PABPC1, KMT2D, LEMD2, TBC1D4, CTC1, PPP1R15A, RBM33, LRRC15, KRT33A, KRTAP12–2, KRT81, AHNAK, KRTAP4–8, FLG2</em>). The forensic application of the detection system was evaluated, and all hair samples used were collected from individuals in Shanxi province. Firstly, we demonstrated that the RNA typing results of a single hair shaft were in perfect concordance with DNA typing results and confirmed the consistency between hairs from different body parts. To assess the potential influence of positions along the hair shaft, 6 cm long hair shafts from the distal end were examined by the MALDI-TOF MS system, whose genotype could be successfully detected. The system was capable of detecting aged samples stored for 390 days and could also be employed on various types of hair samples, such as white hair and permed or dyed hair. Finally, 50 unrelated individuals from Shanxi province were genotyped for the population study, and the CDP of the system in the Shanxi population is 0.998928. In this study, we established a mass spectrometry system for human identification based on a single hair shaft. We used a single hair shaft, rather than multiple hair shafts reported in our previous report, to get a full typing profile. The system sensitivity was substantially enhanced, which provided a valuable strategy for forensic practice to perform human identification using hairs.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103158"},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142434452","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the performance of multi-InDel panels for human identification among admixed Brazilians","authors":"Livia Carla Ramos ,&nbsp;Luciellen D.G. Kobachuk ,&nbsp;Douglas Mendes Nadur ,&nbsp;Luiza Rauen Sabbag ,&nbsp;Marianna Maia Taulois do Rosário ,&nbsp;Michel S. Naslavsky ,&nbsp;Celso Teixeira Mendes-Junior ,&nbsp;Erick C. Castelli","doi":"10.1016/j.fsigen.2024.103161","DOIUrl":"10.1016/j.fsigen.2024.103161","url":null,"abstract":"<div><div>Insertion/deletion polymorphisms, or InDels, are widely present in the human genome. They have been considered as potential markers for forensic analysis because they can be genotyped using the CE platform and compatible typing techniques used in forensic laboratories. Additionally, InDels have lower mutation rates and often short amplicon sizes, making them ideal for detecting degraded samples. However, most InDels are bi-allelic; therefore, their discrimination power is relatively low. A new set of genetic marker called multi-InDels was reported to improve InDel's informativeness. Multi-InDel markers are generally designated as microhaplotypes encompassing two or more InDels within a short distance, usually less than 200 bp. In this study, we evaluated the applicability of three previously proposed panels of multi-InDel markers, designed for Asian populations, for human identification in Brazil. We assessed all the multi-InDel markers using high-coverage whole-genome sequencing data from a census-based cohort of 1171 Brazilians residing in São Paulo, the largest Brazilian capital. The results showed that most markers are informative for Brazilian individuals since they present more than three frequent haplotypes with different sizes. However, most markers are prone to amplification/sequencing errors due to repetitive or low-complexity regions. Among the tested panels, the one from Huang et al. (2014) is the most promising for forensic use in Brazil, with a combined match probability and cumulative power of exclusion of 4.92 ×10⁻¹⁴ and 0.9991, respectively. Nevertheless, these values are low compared to the ones obtained with CODIS STRs (short tandem repeats) and larger SNP (single nucleotide polymorphisms) panels. Therefore, new attempts to scan the human genome for highly polymorphic multi-InDel markers are still necessary to obtain a suitable panel of multi-InDels for worldwide populations.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103161"},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142442894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A preliminary study on detecting human DNA in aquatic environments: Potential of eDNA in forensics","authors":"Marie Antony Dass ,&nbsp;Craig D.H. Sherman ,&nbsp;Roland A.H. van Oorschot ,&nbsp;Dadna Hartman ,&nbsp;Gemma Carter ,&nbsp;Annalisa Durdle","doi":"10.1016/j.fsigen.2024.103155","DOIUrl":"10.1016/j.fsigen.2024.103155","url":null,"abstract":"<div><div>Human environmental DNA (eDNA) application have not been fully applied or adequately considered in the fields of eDNA and forensics. Nonetheless, this technique holds great potential as a complementary tool for detecting human DNA in aquatic environments, particularly in cases involving crimes connect to such environments. However, the detectability or stability of eDNA can vary depending on several factors. Therefore, this preliminary study investigates the detection and degradation rates of human eDNA, as well as the recovery of nuclear short tandem repeat (STR) profiles and mitochondrial DNA (mtDNA) sequencing, using water samples from both saltwater and freshwater sources. To conduct the experiment, whole human blood was spiked into the water samples. Water samples were then filtered using a 5 µm pore size filter, and samples were collected at various time intervals up to 23 days. A human specific qPCR assay targeting HV1 region of human mtDNA was used to detect human eDNA. Results demonstrated that human eDNA remains detectable for up to 36 hours in freshwater samples and up 84 hours in saltwater samples. The limit of detection (LOD) of human eDNA, (205 copies/µl), was achieved after 60 hours in freshwater and 180 hours in saltwater samples. Partial STR profiles could be recovered up to 24 hours for freshwater and saltwater. Results from mtDNA sequencing indicate that full mtDNA profiles could be recovered from freshwater samples up to 48 hours and remained detectable up to 72 hours in saltwater. Overall, the findings of this study underscore the importance of considering and incorporating human eDNA analysis as a valuable tool in forensic practice. By harnessing the power of eDNA, law enforcement agencies can enhance their investigation capabilities, improve the accuracy of forensic reconstructions, and ultimately contribute to the resolution of cases involving aquatic environments. Further research and validation are needed to optimize and expand the utilization of eDNA techniques in forensic investigations.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103155"},"PeriodicalIF":3.2,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"SMART: STR Mixture Analysis and Resolution Tools","authors":"Xianchao Ji ,&nbsp;Lianjiang Chi ,&nbsp;Lan Wu ,&nbsp;Jianchao Chen ,&nbsp;Anxin Yan ,&nbsp;Yongjiu Li ,&nbsp;Zheng Tu ,&nbsp;Jian Ye ,&nbsp;Hua Chen","doi":"10.1016/j.fsigen.2024.103148","DOIUrl":"10.1016/j.fsigen.2024.103148","url":null,"abstract":"<div><div>The analysis of STR mixture profiles derived from mixed DNA samples plays a critical role in criminal investigations and legal proceedings. In this article, we present SMART, a novel software developed within the fully continuous model framework to analyze STR mixture profiles. SMART incorporates the peak height model, stutter model, drop-in/drop-out model, and population genetics model, offering various functionalities such as calculating likelihood ratios (LR), resolving genotypes of individual contributors, and performing direct database searches using mixed DNA profiles. The performance of SMART was evaluated using laboratory-generated samples and the PROVEDIt dataset following the SWGDAM guidelines. The results demonstrate that SMART achieves high sensitivity, specificity, and precision. Furthermore, the software is computationally efficient, allowing for quick analysis on a desktop computer. Overall, we anticipate that SMART will serve as an invaluable tool for forensic investigations, enhancing the accuracy and reliability of criminal justice outcomes.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103148"},"PeriodicalIF":3.2,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Large-scale selection of highly informative microhaplotypes for ancestry inference and population specific informativeness","authors":"Maria Luisa de Barros Rodrigues ,&nbsp;Marcelo Porto Rodrigues ,&nbsp;Heather L. Norton ,&nbsp;Celso Teixeira Mendes-Junior ,&nbsp;Aguinaldo Luiz Simões ,&nbsp;Daniel John Lawson","doi":"10.1016/j.fsigen.2024.103153","DOIUrl":"10.1016/j.fsigen.2024.103153","url":null,"abstract":"<div><div>Microhaplotypes (MHs) describe physically close genetic markers that are inherited together and are gaining prominence due to their efficiency in forensic, clinical, and population studies. They excel in kinship analysis, DNA mixture detection, and ancestry inference, offering advantages in precision over individual SNPs and STRs. In this study, a pipeline was developed to efficiently select highly informative MHs from large-scale genomic datasets. Over 120,000 MHs were identified from almost a million markers, which allow this non-independent information to be efficiently used for inference. The MHs were compared to SNPs in terms of their informativeness and performance of their subsets in ancestry inference and all the results consistently favored MHs. A method for ranking markers by specific population informativeness was also introduced, which showed improvement in the accuracy of Native American ancestry estimation, overcoming the challenges of its underrepresentation in datasets. In conclusion, this study presents a comprehensive way for selecting highly informative MHs for accurate ancestry inference. The proposed approach and the subsets selected by specific population informativeness offer valuable tools for improving ancestry inference accuracy, particularly for admixed populations as demonstrated for a Brazilian dataset.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103153"},"PeriodicalIF":3.2,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Trace DNA and its persistence on various surfaces: A long term study investigating the influence of surface type and environmental conditions – Part two, non-metals","authors":"Hilary Arsenault,&nbsp;Agnieszka Kuffel,&nbsp;Patricia Dugard,&nbsp;Niamh Nic Daeid,&nbsp;Alexander Gray","doi":"10.1016/j.fsigen.2024.103151","DOIUrl":"10.1016/j.fsigen.2024.103151","url":null,"abstract":"<div><div>The work presented herein is the second part of a large-scale persistence project aimed at identifying trends in trace DNA persistence. This study aims to show how different environmental storage conditions and target surface characteristics influence the persistence of cellular and cell free DNA (cfDNA) over time. To eliminate variation within the experiment, we used a proxy DNA deposit consisting of a synthetic fingerprint solution, cellular DNA, and/or cfDNA. Samples were collected and analysed from eight non-metal surfaces over the course of 1 year (27 time points) under three different environmental storage conditions. The results of this experiment show that surface characteristics in conjunction with DNA type greatly influence DNA persistence. Variation in the amount of DNA recovered over time was greatly influenced by surface porosity. CfDNA persisted at significantly higher levels on non-porous surfaces, and cellular DNA persisted at higher levels on porous items. Furthermore, statistically significant differences in DNA persistence were found among the items classified as non-porous surfaces and among the items classified as porous surfaces. Additionally, this study showed that the sample storage environment had a larger impact on DNA persistence than previously observed for metal surfaces [1]. When considering DNA type, cellular DNA was shown to persist for longer than cfDNA and persistence as a whole appears to be better when DNA is deposited alone rather than in mixtures. Unsurprisingly, it was found that the amount of DNA recovered from trace deposits decreased over time. However, DNA decay is highly dependent on the surface type and exhibits higher variability at short time points and on porous surfaces. For each of the surfaces tested, DNA persisted 1 year past deposition (in some combination of DNA type and environmental condition), except for wood, on which DNA did not persist in any capacity past four months. This data is intended to add to our understanding of DNA persistence and the factors which affect it.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103151"},"PeriodicalIF":3.2,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515271","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}