Junyi Di , Jing Jin , Jinzhuan Zhang , Xiaoning Xu , Chen Li , Keli Guo , Chaoyi Shi
{"title":"Research on correlation between DNA typing and trace characteristics of blood after thermal exposure","authors":"Junyi Di , Jing Jin , Jinzhuan Zhang , Xiaoning Xu , Chen Li , Keli Guo , Chaoyi Shi","doi":"10.1016/j.fsigen.2024.103172","DOIUrl":"10.1016/j.fsigen.2024.103172","url":null,"abstract":"<div><div>The identification of biological evidence is particularly important for criminal detection, and the deoxyribonucleic acid (DNA) analysis plays a significant role in reconstructing events. However, bloodstains after thermal exposure in fires are quite unique compared to those in other scenes. Previous results regarding DNA recovery in bloodstains after heating are inconsistent with each other, which limits guidance for forensic science. In order to confirm the influence of heat on DNA recovery, the important physical evidence, bloodstain, was selected for its common occurrence, and a standard heat source, the Cone Calorimeter, was used to simulate high temperatures in fire scenes. A series of bloodstains were prepared under different heating conditions, and the results of short tandem repeat (STR) typing were systematically correlated with the trace characteristics of bloodstains. The findings indicate that heating bloodstains below 150 °C for less than 10 mins has minimal effect on DNA testing. After heating bloodstains at 150 °C for 20 mins or at 180 °C for 5 mins, partial DNA profiles were obtained, accompanied by blackening and cracking of the bloodstains. After exposure to 180 °C for 20 mins or 200 °C for 10 mins, no DNA profiles were obtained with bloodstains exhibiting metallic lusters and black bulges. Furthermore, from the perspective of chemical bond energy, the C-N, C-O, C-C, and P-O bonds in DNA molecules are prone to breaking during heating. The C-N bond serves as the primary connection between the four bases and the strand, while the C-O, C-C, and P-O bonds are significant connections within the DNA strand. It is thus hypothesized that the breakage of any bond aforementioned during heating results in the failure of DNA typing. Understanding the correlation between trace characteristics of bloodstains and DNA typing results after thermal exposure is crucial for comprehending DNA recovery from physical evidence collected from fire scenes.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103172"},"PeriodicalIF":3.2,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640229","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}
Courtney R.H. Lynch , Olivia L. Martin , Craig Billington , Rachel Fleming
{"title":"Towards the identification of body fluids using RT-LAMP isothermal amplification coupled with CRISPR-Cas12a","authors":"Courtney R.H. Lynch , Olivia L. Martin , Craig Billington , Rachel Fleming","doi":"10.1016/j.fsigen.2024.103167","DOIUrl":"10.1016/j.fsigen.2024.103167","url":null,"abstract":"<div><div>While often necessary in sexual assault cases, confirmatory identification of body fluids can be a lengthy and/or costly process. In particular, the detection of vaginal fluid and menstrual fluid in forensic casework is limited to endpoint reverse-transcription PCR to detect fluid-specific messenger RNA (mRNA) markers as there are no robust chemical or enzymatic techniques available for these fluids. Similarly, testing for rectal mucosa is not possible with standard methods, the presence of which would provide probative value in cases of alleged anal penetration, although mRNA-based markers have recently been described. Reverse-transcription loop-mediated isothermal amplification (RT-LAMP) is an alternative technique that enables detection of mRNA at a single temperature (usually 60–65℃) for 10–30 minutes and has comparable sensitivity to PCR. We describe the coupling of RT-LAMP amplification (60℃ for 30 minutes) with CRISPR-mediated fluorescent detection of the body fluid specific mRNA markers <em>MMP3</em> (menstrual fluid)<em>, CYP2B7P</em> (vaginal material)<em>, TNP1</em> (spermatozoa)<em>, KLK2</em> (semen)<em>,</em> and <em>MUC12</em> (rectal mucosa). Following temperature optimization and final selection of RT-LAMP-CRISPR assays, their specificity across circulatory blood, buccal, menstrual fluid, vaginal material, semen, and rectal mucosa was assessed. Most assays were specific for their intended target body fluid, although <em>MMP3</em> and <em>CYP2B7P</em> were detected in some rectal mucosa samples, the latter of which has been observed previously in the literature. A preliminary sensitivity assessment in target fluids was determined by a dilution series over six logs of RNA input. A range of assay approaches were investigated to develop a protocol suitable for use in a forensic screening laboratory. This included the determination of fluorescent assay results by eye, use of lyophilised reagents, and RT-LAMP and CRISPR reactions undertaken in one-tube in a lower resource setting.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103167"},"PeriodicalIF":3.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565355","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}
Jun Zhang , Daijing Yu , Liwei Zhang , Tian Wang , Jiangwei Yan
{"title":"Environmental microbiota from substrate may interfere with microbiome-based identification of forensically relevant body fluids: A pilot study","authors":"Jun Zhang , Daijing Yu , Liwei Zhang , Tian Wang , Jiangwei Yan","doi":"10.1016/j.fsigen.2024.103170","DOIUrl":"10.1016/j.fsigen.2024.103170","url":null,"abstract":"<div><div>The microbiome is a promising tool for identifying body fluids which can be deposited on various substrates at a crime scene. Body fluids collected from crime scenes are not entirely free from substrate microbes whose effects on the microbiome-based identification of body fluids are not well understood. In this study, five body fluids (peripheral blood, menstrual blood, nasal secretions, saliva, and semen) were deposited on sterile swabs, bedspreads, and floors under indoor exposure conditions for 7 days. The microbial communities in the samples were characterized using amplicon sequencing targeted V4 region of 16S rRNA gene. The results showed that the microbial communities of fresh samples deposited on sterile swabs clustered together according to the type of body fluid. The microbial composition of the body fluids deposited on the bedspread and floor is significant different from those deposited on sterile swabs. The microbial communities of mock body fluids were a mixture of microbes from pure body fluids and environmental microbes. FEAST analysis showed that the microbes of mock saliva samples were mainly from pure body fluids (51.53 % and 63.04 % on the bedspread and floor, respectively), but not from substrates (25.70 % and 18.92 % on the bedspread and floor, respectively). Contrary results were observed in peripheral blood, mock nasal secretion, and semen samples. All samples were mainly clustered based on the substrate, but not on the type of body fluid in the PCoA visualization. PERMANOVA results showed that the substrate accounted for more of the variance (R<sup>2</sup> = 0.211, P < 0.001) than the type of body fluid (R<sup>2</sup> = 0.152, P < 0.001). MicroDecon was used to remove contamination by microbes from the substrate of mock body fluid samples. PCoA and PERMANOVA were performed using decontaminated data. The results showed that samples were no longer clustered based on the substrate, and the type of body fluid (R<sup>2</sup> = 0.240, P < 0.001) accounted for more of the variance in the microbial communities of samples than the substrate (R<sup>2</sup> = 0.108, P < 0.001). Our results suggest that environmental microbiota from substrates may interfere with the microbiome-based identification of forensically relevant body fluids. To some extent, decontamination could decrease the effects of the substrate on the microbial communities of the samples and enhance the ability to distinguish between the types of body fluids. This pilot study will be valuable in promoting the application of microbiome-based stain analysis in forensics.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103170"},"PeriodicalIF":3.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142592620","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}
Jessica L. Watson , Kaymann Cho , Kelly Grisedale , Jodie Ward , Dennis McNevin
{"title":"Characterisation of identity-informative genetic markers in the Australian population with European ancestry","authors":"Jessica L. Watson , Kaymann Cho , Kelly Grisedale , Jodie Ward , Dennis McNevin","doi":"10.1016/j.fsigen.2024.103169","DOIUrl":"10.1016/j.fsigen.2024.103169","url":null,"abstract":"<div><div>Identity-informative single nucleotide polymorphisms (iiSNPs) are valuable genetic markers for human identification and kinship testing in forensic casework, especially when the quality and quantity of DNA evidence is not suitable for routine short tandem repeat (STR) profiling. This study analysed 105 buccal samples representing the Australian population with European ancestry in order to assign allele frequencies and conduct population genetic analyses for 94 iiSNPs and 20 STRs. The markers were assessed by calculating relevant forensic statistics and testing for deviations from Hardy-Weinberg and linkage equilibrium. No linkage of statistical significance was observed between any of the pair-wise combinations of the combined 114 identity-informative markers and only one STR exhibited deviation from Hardy-Weinberg equilibrium (D8S1179). The probability of matching genotypes being observed within this population was of the order of 10<sup>−23</sup> for STRs, 10<sup>−38</sup> for iiSNPs and 10<sup>−60</sup> for the combined identity-informative marker panel, improving the ability to discriminate between individuals when calculating likelihood ratios in direct or indirect matching scenarios. Further, the addition of iiSNPs will facilitate identifications when suboptimal STR profiles are recovered from compromised or challenging samples and aid comparisons to genetic relatives for familial or kinship testing.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103169"},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142549769","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":"Driver or passenger? Use of a Bayesian network for the evaluation of DNA results in a fatal car accident","authors":"Lydie Samie , Christophe Champod , Tacha Hicks , Séverine Delemont , Vincent Castella","doi":"10.1016/j.fsigen.2024.103166","DOIUrl":"10.1016/j.fsigen.2024.103166","url":null,"abstract":"<div><div>This article presents a case where the issue was to determine who was the driver and who was the passenger at the time of a fatal car accident involving two persons, one of whom died in the accident. The presence of the two persons in the car was not contested, only the mechanisms that led to the deposition of the DNA (i.e., the activities) were. To our knowledge, few cases are evaluated considering the alleged activities. The reasons for this include the lack of knowledge, and data, as well as the difficulties encountered for the formulation of conclusions. In this case report, we present the architecture of the Bayesian Network (BN) used to evaluate the DNA results of the traces recovered from the steering wheel, driver's and passenger’s airbags. The following propositions were considered: “The person of interest (POI) was driving the car and the alternative person (AP) was the passenger at the time of the accident” or vice versa. We discuss the assumptions that were made and how data from the literature was used to parametrize into the BN. A likelihood ratio of the order of 90 was finally assigned. The statement proposed to the mandating authority indicated that, given the information that was made available to us, our observations were of the order of 90 times more probable if the POI was driving the car at the time of the accident rather than if the AP was. A sensitivity analysis was performed (5000 simulations): this shows that our likelihood ratio is robust.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103166"},"PeriodicalIF":3.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142523931","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}
Layal Zaarour , Matthew Padula , Roland A.H. van Oorschot , Dennis McNevin
{"title":"Mass spectrometry-based proteomics for source-level attribution after DNA extraction","authors":"Layal Zaarour , Matthew Padula , Roland A.H. van Oorschot , Dennis McNevin","doi":"10.1016/j.fsigen.2024.103168","DOIUrl":"10.1016/j.fsigen.2024.103168","url":null,"abstract":"<div><div>Biological traces recovered from crime scenes serve as vital evidence in forensic investigations. While DNA evidence is frequently used to address the sub-source level of the hierarchy of propositions, the biological source of the DNA can be highly probative at the source level. Current body fluid detection methods pose certain limitations, such as reports of false positive results from some of the presumptive and/or confirmatory tests in current use. These tests are also individual tests for the detection of one body fluid, meaning that if the sample is suspected to be a mixture of multiple body fluids, then different tests would need to be conducted to confirm the body fluid(s) present, which may exhaust small amounts of available biological trace. Proteomics applications for the identification of body fluids have been previously explored, and potential biomarkers indicative of body fluids discovered from liquid-chromatography tandem mass spectrometry (LC-MS/MS) methods have been reported. This work focuses on developing a mass spectrometry-based proteomics approach for the identification of body fluids by targeting discriminating peptide biomarkers from the non-DNA component left over after DNA extraction of samples. The non-DNA component is typically a waste product but with unappreciated evidential value. Our methodology for the purification of proteins from the post-DNA extraction waste includes an acetone precipitation and single-pot solid-phase-enhanced sample preparation (SP3) technique, microwave-assisted trypsin digestion, and LC-MS/MS analysis of the resultant peptides. Preliminary results from this proof-of-concept study include a list of potentially discriminating proteins and peptides for blood, saliva, and semen developed from the analysis of post-DNA extraction waste. Our method allows for multiple analytes to be targeted simultaneously from a DNA profiling waste stream and we anticipate that it could eventually be incorporated into standard forensic laboratory workflows.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103168"},"PeriodicalIF":3.2,"publicationDate":"2024-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635065","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":"Who threw that stone? A study on DNA transfer","authors":"Aileen Sorg, Colin Charles Tièche, Martin Zieger","doi":"10.1016/j.fsigen.2024.103165","DOIUrl":"10.1016/j.fsigen.2024.103165","url":null,"abstract":"<div><div>Contact or touch DNA traces from stones account for around 5 % of all crime scene-related swab samples analysed in our department. These traces are often used to identify perpetrators in cases such as burglary, when a stone is used as a tool to break a window or in cases of property damage during riots. Provided that a DNA profile can be obtained in such a case, questions may arise in court regarding the possibilities of DNA transfer onto the stone. Was the subject's DNA indeed transferred onto the stone while it was being used for the crime, or was it already present as background DNA? Alternatively, could it have been transferred by other means, such as by handing over the stone to someone else who then threw it, or by touching it during an attempt to prevent someone else from throwing it? This study focused on two scenarios: experiments involving different participants throwing various stones and a handover scenario where one person touched the stone and another person threw it. We observed that the amount of DNA transferred/detected on the stone is mainly dependent on the individual handling it rather than on the properties of the stone itself or on the order in which the stones are thrown. In the handover scenario, the person who first touched the stone was found to be the main contributor to the trace as often as the person who eventually threw the stone. Our findings therefore confirm that no conclusions can be drawn about the way of interaction with the stones based solely on the obtained DNA profiles.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103165"},"PeriodicalIF":3.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515272","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}
Balázs Kocsis , Norbert Mátrai , Gusztáv Bárány , Gyöngyvér Tömöry , Attila Heinrich , Balázs Egyed
{"title":"Internal validation of the Precision ID GlobalFiler NGS STR panel v2 kit with locus-specific analytical threshold, and with special regard to mixtures and low template DNA detection","authors":"Balázs Kocsis , Norbert Mátrai , Gusztáv Bárány , Gyöngyvér Tömöry , Attila Heinrich , Balázs Egyed","doi":"10.1016/j.fsigen.2024.103159","DOIUrl":"10.1016/j.fsigen.2024.103159","url":null,"abstract":"<div><div>We performed an internal laboratory validation of the Precision ID GlobalFiler NGS STR panel v2 kit to assist the introduction of the technology into the routine forensic casework practice. The study was designed and evaluated based not only on the key validation standards like sensitivity, stability, reproducibility, repeatability, mixture, and concordance, but we also tested the effect of reduced input DNA, we measured and applied locus-specific analytical threshold values, tested two different PCR cycle conditions, sequence artifacts and stutters were also analysed. During the study we also tested the new method on real casework samples. The sensitivity study confirmed that adding 500 pg template DNA for library preparation can be optimal at base PCR cycle number (that was 24), because the measured average heterozygote balance was not lower than 0.82, and each allele was detected above the analytical threshold. However, contrary to previous communications, increasing the PCR cycle numbers up to 28 has not resulted the significant elevation of the heterozygote imbalance. According to our results, raised PCR cycle condition (i.e. 28) is appropriate at or below 150 pg total input DNA. For most loci, the calculated AT was lower than the manufacturer’s recommended. Applying the newly established ATs with raised PCR cycle conditions the allele detection sensitivity and reliability increased. We observed allele dropouts only at the 15 pg template DNA experiments with 5 % frequency, that is better to previously published studies. This result indicates that this low amount of DNA (i.e. 15 pg) could be a minimum limit of template input for a potentially successful analysis. In the mixture study the minor contributor could be detected up to 1:19 mixture ratio. We detected minor alleles in all measurements and concentrations above the threshold if the template DNA were fixed and only SNP differences were observed between the same alleles of the contributors. To test concordance between the new method and traditional STR genotyping we analysed 58 Hungarian individual samples in parallel. Nearby the detected 248 different length-based alleles on the 31 loci in the sample pool we revealed additional 75 sequence variant alleles, that represent an approximately 23 % increase in the total number of observed alleles. The casework study confirmed that the Precision ID GlobalFiler NGS STR panel v2 kit is effective even in genotyping degraded samples with extremely low levels of DNA, if we apply elevated cycle number for library preparation and use locus-specific analytical thresholds.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103159"},"PeriodicalIF":3.2,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142526046","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":"Developmental validation of a multiplex qPCR assay for simultaneous quantification of nuclear and mitochondrial DNA","authors":"Filomena Melchionda , Mauro Pesaresi , Federica Alessandrini , Valerio Onofri , Chiara Turchi","doi":"10.1016/j.fsigen.2024.103164","DOIUrl":"10.1016/j.fsigen.2024.103164","url":null,"abstract":"<div><div>Quantification of human DNA is key in forensic genetics. A more accurate estimate of the amount of DNA is essential for planning and optimising genotyping assays, as is evaluating the presence of PCR inhibitory substances and DNA degradation status. Multiplex qPCR assays are helpful in forensics because they can quantify different targets simultaneously, thus saving valuable samples, time, and labour. The aim of this study was to highlight the challenges in the developmental validation of a multiplex real-time PCR assay and the drawbacks encountered in translating a previously described and validated assay (SD quants) to a different technology by modifying the dye probes and reagent mix to be used in a different instrument. We developed a TaqMan probe-based multiplex qPCR using reagents and fluorescent probes adapted for the Rotor-Gene 6000 instrument (QIAGEN, Hilden, Germany). The initial assay combined two mitochondrial DNA (mtDNA) and two nuclear DNA (nDNA) targets, with amplification products of different sizes (mtDNA = 69 and 143 bp; nDNA = 71 and 181 bp), to estimate the DNA degradation status and an internal positive control (IPC) to detect potential inhibitors. During the initial testing of the assay, we observed an interaction between the 69 bp mtDNA target and the 71 bp nDNA target probe, and experiments were conducted to resolve this issue without success. We removed the small nDNA target (71 bp) and changed from a 5-plex to a 4-plex qPCR assay (qMIND). The final tetraplex assay was tested on 105 forensic samples and/or small amounts of degraded DNA, such as bones, teeth, fingernails, formalin-fixed paraffin-embedded tissues (FFPE), and hair shaft samples. The quantification results were compared with data acquired from the same samples using another commercially available quantification system commonly used in forensic laboratories. In addition, the short tandem repeat (STR) profiles were investigated to determine their correlation with the quantitative values obtained. Overall, the qPCR assay was robust and reliable for DNA quantification in samples commonly used in forensic practice.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103164"},"PeriodicalIF":3.2,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515268","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}
Ana Filipa Sobral , Ricardo Jorge Dinis-Oliveira , Daniel José Barbosa
{"title":"CRISPR-Cas technology in forensic investigations: Principles, applications, and ethical considerations","authors":"Ana Filipa Sobral , Ricardo Jorge Dinis-Oliveira , Daniel José Barbosa","doi":"10.1016/j.fsigen.2024.103163","DOIUrl":"10.1016/j.fsigen.2024.103163","url":null,"abstract":"<div><div>CRISPR-Cas (Clustered Regularly Interspaced Short Palindromic Repeats and CRISPR-associated proteins) systems are adaptive immune systems originally present in bacteria, where they are essential to protect against external genetic elements, including viruses and plasmids. Taking advantage of this system, CRISPR-Cas-based technologies have emerged as incredible tools for precise genome editing, thus significantly advancing several research fields. Forensic sciences represent a multidisciplinary field that explores scientific methods to investigate and resolve legal issues, particularly criminal investigations and subject identification. Consequently, it plays a critical role in the justice system, providing scientific evidence to support judicial investigations. Although less explored, CRISPR-Cas-based methodologies demonstrate strong potential in the field of forensic sciences due to their high accuracy and sensitivity, including DNA profiling and identification, interpretation of crime scene investigations, detection of food contamination or fraud, and other aspects related to environmental forensics. However, using CRISPR-Cas-based methodologies in human samples raises several ethical issues and concerns regarding the potential misuse of individual genetic information. In this manuscript, we provide an overview of potential applications of CRISPR-Cas-based methodologies in several areas of forensic sciences and discuss the legal implications that challenge their routine implementation in this research field.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103163"},"PeriodicalIF":3.2,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142515267","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}