Forensic Science International-Genetics最新文献

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A multi-class support vector machine classification model based on 14 microRNAs for forensic body fluid identification 基于 14 种 microRNA 的多类支持向量机分类模型用于法医体液鉴定
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-21 DOI: 10.1016/j.fsigen.2024.103180
Suyu Li , Jing Liu , Wei Xu , Shuyuan Zhang , Mengyao Zhao , Lu Miao , Minxiao Hui , Yuan Wang , Yiping Hou , Bin Cong , Zheng Wang
{"title":"A multi-class support vector machine classification model based on 14 microRNAs for forensic body fluid identification","authors":"Suyu Li ,&nbsp;Jing Liu ,&nbsp;Wei Xu ,&nbsp;Shuyuan Zhang ,&nbsp;Mengyao Zhao ,&nbsp;Lu Miao ,&nbsp;Minxiao Hui ,&nbsp;Yuan Wang ,&nbsp;Yiping Hou ,&nbsp;Bin Cong ,&nbsp;Zheng Wang","doi":"10.1016/j.fsigen.2024.103180","DOIUrl":"10.1016/j.fsigen.2024.103180","url":null,"abstract":"<div><div>MicroRNAs (miRNAs) are promising biomarkers for forensic body fluid identification owing to their small size, stability against degradation, and differential expression patterns. However, the expression of most body fluid-miRNAs is relative (differentially expressed in certain body fluids) rather than absolute (exclusively expressed in a specific body fluid). Moreover, different body fluids contain heterogeneous cell types, complicating their identification. Therefore, appropriate normalization strategies to eliminate non-biological variations and robust models to interpret expression levels accurately are necessary prerequisites for applying miRNAs in body fluid identification. In this study, the expression stability of six candidate reference genes (RGs) across five body fluids was validated using geNorm, NormFinder, BestKeeper and RankAggreg, and the most suitable combination of RGs (hsa-miR-484 and hsa-miR-191–5p) was identified under our experimental conditions. Subsequently, we systematically evaluated the expression patterns of the 28 most promising body fluid-specific miRNA markers using TaqMan RT-qPCR and selected the optimal combination of markers (12 miRNAs) to establish a multi-class support vector machine (MSVM) classification model. An independent test set (60 samples) was used to validate the accuracy of the proposed classification model, while an additional 30 casework samples were used to assess its robustness. The MSVM model accurately predicted the body fluid origin for almost all (59/60) single-source samples. Moreover, this model demonstrated the capability to identify aged forensic samples and to predict the primary components of mixed stains to a certain extent. In summary, this study presented a miRNA-based MSVM classification model for forensic body fluid identification using the qPCR platform. However, extensive validation, especially inter-laboratory collaborative exercises, is necessary before miRNA can be routinely applied in forensic identification practice.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103180"},"PeriodicalIF":3.2,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697389","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}
引用次数: 0
A molecular framework for enhancing quality control and sample integrity in forensic genome sequencing 加强法医基因组测序质量控制和样本完整性的分子框架。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-19 DOI: 10.1016/j.fsigen.2024.103179
Steven A. Bates , Bruce Budowle , Lee Baker , Kristen Mittelman , David Mittelman
{"title":"A molecular framework for enhancing quality control and sample integrity in forensic genome sequencing","authors":"Steven A. Bates ,&nbsp;Bruce Budowle ,&nbsp;Lee Baker ,&nbsp;Kristen Mittelman ,&nbsp;David Mittelman","doi":"10.1016/j.fsigen.2024.103179","DOIUrl":"10.1016/j.fsigen.2024.103179","url":null,"abstract":"<div><div>DNA typing is essential for identifying crime scene evidence and missing and unknown persons. Molecular tags historically have been incorporated into DNA typing reactions to improve result interpretation. Molecular tags like barcodes and unique identifiers are integral to MPS, aiding in sample tracking and error detection. However, these tags do not fully leverage sequence variation to enhance quality control. To address this need, molecular etches, which are synthetic oligonucleotides that serve as an internal molecular information management system, are introduced. Molecular etches encode detailed sample information improving sample workflow history, tracking, contamination detection, and authenticity verification. Validation studies demonstrate the robustness of molecular etches in genomic sequencing, making them a valuable quality tool for forensic DNA analysis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103179"},"PeriodicalIF":3.2,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142696122","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}
引用次数: 0
Benchmarking for genotyping and imputation using degraded DNA for forensic applications across diverse populations 利用降解 DNA 进行基因分型和估算,为不同人群的法医应用设定基准
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-17 DOI: 10.1016/j.fsigen.2024.103177
Elena I. Zavala , Rori V. Rohlfs , Priya Moorjani
{"title":"Benchmarking for genotyping and imputation using degraded DNA for forensic applications across diverse populations","authors":"Elena I. Zavala ,&nbsp;Rori V. Rohlfs ,&nbsp;Priya Moorjani","doi":"10.1016/j.fsigen.2024.103177","DOIUrl":"10.1016/j.fsigen.2024.103177","url":null,"abstract":"<div><div>Advancements in sequencing and laboratory technologies have enabled forensic genetic analysis on increasingly low quality and degraded DNA samples. However, existing computational methods applied to genotyping and imputation for generating DNA profiles from degraded DNA have not been tested for forensic applications. Here we simulated sequencing data of varying qualities–coverage, fragment lengths, and deamination patterns–from forty individuals of diverse genetic ancestries. We used this dataset to test the performance of commonly used genotype and imputation methods (SAMtools, GATK, ATLAS, Beagle, and GLIMPSE) on five different SNP panels (MPS-plex, FORCE, two extended kinship panels, and the Human Origins array) that are used for forensic and population genetics applications. For genome mapping and variant calling with degraded DNA, we find use of parameters and methods (such as ATLAS) developed for ancient DNA analysis provides a marked improvement over conventional standards used for next generation sequencing analysis. We find that ATLAS outperforms GATK and SAMtools, achieving over 90 % genotyping accuracy for the four largest SNP panels with coverages greater than 10X. For lower coverages, decreased concordance rates are correlated with increased rates of heterozygosity. Genotype refinement and imputation improve the accuracy at lower coverages by leveraging population reference data. For all five SNP panels, we find that using a population reference panel representative of worldwide populations (e.g., the 1000 Genomes Project) results in increased genotype accuracies across genetic ancestries, compared to ancestry-matched population reference panels. Importantly, we find that the low SNP density of commonly used forensics SNP panels can impact the reliability and performance of genotype refinement and imputation. This highlights a critical trade-off between enhancing privacy by using panels with fewer SNPs and maintaining the effectiveness of genomic tools. We provide benchmarks and recommendations for analyzing degraded DNA from diverse populations with widely used genomic methods in forensic casework.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103177"},"PeriodicalIF":3.2,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142697382","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}
引用次数: 0
Estimation of population-specific values of theta for PowerPlex Y23 profiles PowerPlex Y23 图谱的特定人群θ值估算。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-16 DOI: 10.1016/j.fsigen.2024.103175
John S. Buckleton , Taryn O. Hall , Jo-Anne Bright , Michael C. Yung , Jérôme Goudet , Maarten Kruijver , Bruce S. Weir
{"title":"Estimation of population-specific values of theta for PowerPlex Y23 profiles","authors":"John S. Buckleton ,&nbsp;Taryn O. Hall ,&nbsp;Jo-Anne Bright ,&nbsp;Michael C. Yung ,&nbsp;Jérôme Goudet ,&nbsp;Maarten Kruijver ,&nbsp;Bruce S. Weir","doi":"10.1016/j.fsigen.2024.103175","DOIUrl":"10.1016/j.fsigen.2024.103175","url":null,"abstract":"<div><div>We examine 31,011 PPY23 profiles at the population, metapopulation and world levels. Most haplotypes appear only once but a few have higher counts, including a set of 23 matching profiles in Delhi, India and a set of 16 matching profiles in Burkina Faso with one additional matching American African profile. We estimate <span><math><msub><mrow><mi>F</mi></mrow><mrow><mi>S</mi><mi>T</mi></mrow></msub></math></span>values to be used as “theta” <em>(θ</em>) in match probability calculations, following the method we used in our earlier survey of autosomal STR data. Match probability estimates using <span><math><msub><mrow><mover><mi>F</mi><mo>ˆ</mo></mover></mrow><mrow><mi>S</mi><mi>T</mi></mrow></msub></math></span> or the κ method of Brenner for a previously unseen profile are similar but differ for any profile previously seen.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103175"},"PeriodicalIF":3.2,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142696128","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}
引用次数: 0
Ethical and legal reflections on secondary research using genetic data acquired for criminal investigation purposes 对使用为刑事调查目的获取的基因数据进行二次研究的伦理和法律思考。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-16 DOI: 10.1016/j.fsigen.2024.103178
Martin Zieger , Nathan Scudder
{"title":"Ethical and legal reflections on secondary research using genetic data acquired for criminal investigation purposes","authors":"Martin Zieger ,&nbsp;Nathan Scudder","doi":"10.1016/j.fsigen.2024.103178","DOIUrl":"10.1016/j.fsigen.2024.103178","url":null,"abstract":"<div><div>Research with human genetic data or human beings more generally requires valid informed consent. However, several exceptions exist to this universal principle, usually for situations where it is impossible or at least impractical to obtain this consent. Those exceptions are usually bound to requirements of necessity, shared benefit for the concerned community and minimization of harmful impact. Research without consent is normally subject to approval by an ethics review board. However, secondary use for research may also be based on statutory research privileges in the law. We identified several legal provisions in different countries, permitting the secondary use of DNA data that has been collected without consent for law enforcement purposes, which raises ethical questions. Most of the respective laws seem to be connected to privacy rules and permit the use of de-identified data only. However, whether individual DNA profiles in suspect and offender databases can actually be de-identified must be questioned. What appears to be less critical in terms of re-identification risk are the frequently mentioned \"statistical indices\", most likely referring to aggregated allele frequencies. However, reflections about data anonymity and a narrow purpose limitation to research aiming at the improvement of calculations of weight of evidence seem not to be the sole reasons for permitting research with entries from criminal offender databases. Distinctions between convicted offenders and other people in the database suggest an assumption of forfeiting some level of privacy protection upon conviction underlying some of these provisions. The use of entries on national DNA databases could therefore amount to problematic additional punishment.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103178"},"PeriodicalIF":3.2,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142696138","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}
引用次数: 0
Validation of the IDseek® OmniSTR™ Global Autosomal STR Profiling kit, reverse complement PCR as an improved tool/method for routine massively parallel sequencing of short tandem repeats 验证 IDseek® OmniSTR™ 全球常染色体 STR 分析试剂盒,将反向互补 PCR 作为常规大规模并行测序短串联重复序列的改进工具/方法。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-14 DOI: 10.1016/j.fsigen.2024.103174
Kristiaan J. van der Gaag , Natalie Weiler , Erik A.C. de Jong , Jerry Hoogenboom , Pieter van Oers , Rick H. de Leeuw , Elisabeth S.M. Graaf , Thirsa Kraaijenbrink , Joop Theelen , Titia Sijen
{"title":"Validation of the IDseek® OmniSTR™ Global Autosomal STR Profiling kit, reverse complement PCR as an improved tool/method for routine massively parallel sequencing of short tandem repeats","authors":"Kristiaan J. van der Gaag ,&nbsp;Natalie Weiler ,&nbsp;Erik A.C. de Jong ,&nbsp;Jerry Hoogenboom ,&nbsp;Pieter van Oers ,&nbsp;Rick H. de Leeuw ,&nbsp;Elisabeth S.M. Graaf ,&nbsp;Thirsa Kraaijenbrink ,&nbsp;Joop Theelen ,&nbsp;Titia Sijen","doi":"10.1016/j.fsigen.2024.103174","DOIUrl":"10.1016/j.fsigen.2024.103174","url":null,"abstract":"<div><div>Massively Parallel Sequencing (MPS) has gained interest in the forensic community over the past decade. Most of the published MPS methods focus on specialty applications intended for use in a limited number of samples with protocols that are relatively laborious. Recent developments using Reverse-Complement PCR enable an efficient MPS protocol suited for routine analysis of high numbers of samples. This method is implemented in the IDseek® OmniSTR™ Global Autosomal STR Profiling kit (Nimagen) for sequencing 28 of the most commonly used forensic autosomal STRs, one Y-chromosomal STR and Amelogenin. This study describes the validation of this kit and focuses on sensitivity, inhibitor tolerance, sequence variation detection and performance with mixtures up to 5 contributors. Results are compared to a Capillary Electrophoresis method (the PowerPlex® Fusion 6 C system, Promega) and the first commercial forensic MPS kit (ForenSeq™ DNA Signature prep, Qiagen) and for a concordance study with data from the Powerseq® MPS kit as well. Analysis settings in FDSTools are deduced and discussed, and an almost completely automated analysis is achieved. Using FDSTools noise correction, contributions in a mixture down to a level of 1.5 % of the major allele of a marker can be detected.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103174"},"PeriodicalIF":3.2,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645274","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}
引用次数: 0
Concurrent genotyping of mitochondrial DNA and nuclear DNA in rootless hair shafts and blood samples for enhanced analysis 同时对无根毛轴和血液样本中的线粒体 DNA 和核 DNA 进行基因分型,以加强分析。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-13 DOI: 10.1016/j.fsigen.2024.103176
Dan Peng , Nana Wang , Yu Zang , Zhiyong Liu , Zhentang Liu , Jiaojiao Geng , Bin Cong , Hongyu Sun , Riga Wu
{"title":"Concurrent genotyping of mitochondrial DNA and nuclear DNA in rootless hair shafts and blood samples for enhanced analysis","authors":"Dan Peng ,&nbsp;Nana Wang ,&nbsp;Yu Zang ,&nbsp;Zhiyong Liu ,&nbsp;Zhentang Liu ,&nbsp;Jiaojiao Geng ,&nbsp;Bin Cong ,&nbsp;Hongyu Sun ,&nbsp;Riga Wu","doi":"10.1016/j.fsigen.2024.103176","DOIUrl":"10.1016/j.fsigen.2024.103176","url":null,"abstract":"<div><div>Hair is an important type of biological evidence at crime scenes. However, the highly degraded nature of DNA fragments in hair shafts poses challenges for the detection of nuclear DNA (nuDNA) through capillary electrophoresis-based short tandem repeat (STR) genotyping. In this study, an all-in-one multiplex system named MGIEasy Signature Identification Library Prep Kit (MGI Tech, China) was employed to the simultaneous genotyping of both mitochondrial DNA (mtDNA) and nuDNA in hair shafts. This system is based on massively parallel sequencing (MPS) technology and encompasses Amelogenin, STRs, single nucleotide polymorphisms (SNPs) and mtDNA hypervariable regions (HVRs) in a single reaction. A total of 370 hair shafts, together with 180 blood samples as the references, were examined. The mtDNA analysis of 110 unrelated blood samples unveiled a total of 150 homoplasmic variants and 105 distinct haplotypes, revealing population polymorphisms in the Guangdong Han Chinese. The study also delved into the detection of mtDNA heteroplasmy, revealing 8.18 % and 16.36 % of individuals with point heteroplasmies (PHPs) in blood and hair shaft samples, respectively. Additionally, hair shafts with DNA extracted using the Investigator method yielded higher average depth of coverage (DoC), lower drop-out rate for SNP genotyping, higher nuDNA genotyped rates and success rates, than those using the MinElute method. In the longitudinal research, a gradual decrease in the total DoC of mtDNA fragments was observed along the length of the hair shaft, from the proximal root to the distal end. In contrast, the DoC of nuDNA exhibited a relatively stable pattern along the length of the hair shafts. The study contributes valuable insights into the simultaneous detection of nuDNA and mtDNA in hair shafts, emphasizing the need for optimized DNA extraction and detection methods for these highly degraded samples.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103176"},"PeriodicalIF":3.2,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683245","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}
引用次数: 0
Improving the forensic genetic workflow for countries with small geographical areas: What are the options and how cost effective are they? 为地理面积较小的国家改进法医基因工作流程:有哪些选择,成本效益如何?
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-08 DOI: 10.1016/j.fsigen.2024.103171
Anabella De La Chica , Jason Birkett , Cynthia Akwei , David Lamont , Nick Dawnay
{"title":"Improving the forensic genetic workflow for countries with small geographical areas: What are the options and how cost effective are they?","authors":"Anabella De La Chica ,&nbsp;Jason Birkett ,&nbsp;Cynthia Akwei ,&nbsp;David Lamont ,&nbsp;Nick Dawnay","doi":"10.1016/j.fsigen.2024.103171","DOIUrl":"10.1016/j.fsigen.2024.103171","url":null,"abstract":"<div><div>Forensic services worldwide often encounter considerable challenges relating to funding and infrastructure. Smaller jurisdictions or areas where forensic resources are scarce are faced with complicated choices in how they approach criminal casework, with a number of options available. Often these involve trade-offs between cost, time and data quality. Faced with such decisions it becomes important for the field to acknowledge the realities facing such jurisdictions, discuss the pros and cons of each approach, and identify a framework for making such decisions. This novel paper, reviews the available literature and identifies three main solutions for consideration: 1) the use of satellite laboratories for sample triage, 2) the use of a main regional laboratory for full forensic analysis and 3) the use of rapid DNA by police for reducing backlogs. Alongside these strategies, the impacts of cost and quality in regard to each of the stated options are considered. While the literature supports the assertion that some methods can reduce downstream costs via the reduction in turnaround times, there is limited data highlighting the business case used to support decision making when considering these options including the use of cost:benefit analyses or case studies, emphasizing the novelty of this paper. This is likely due to the commercialized nature of the forensic sector preventing the publication of a private laboratory’s business approach. The lack of emphasis on the ‘business case’ in forensic literature has the potential to mislead R&amp;D scientists who may consequently fail to consider such factors when performing their own research.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103171"},"PeriodicalIF":3.2,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142651500","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}
引用次数: 0
Salivary microbiome signatures of Poles and Serbians and its potential for prediction of biogeographic ancestry 波兰人和塞尔维亚人唾液微生物组特征及其预测生物地理祖先的潜力。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-06 DOI: 10.1016/j.fsigen.2024.103173
Katarzyna Skonieczna , Natasa Kovacevic-Grujicic , Aashish Srivastava , Mariusz Gawrych , Marzanna Ciesielka , Nisha Rana , Danijela Drakulic , Marija Mojsin , Milena Milivojevic , Milena Stevanovic , Grzegorz Teresiński , Tomasz Grzybowski
{"title":"Salivary microbiome signatures of Poles and Serbians and its potential for prediction of biogeographic ancestry","authors":"Katarzyna Skonieczna ,&nbsp;Natasa Kovacevic-Grujicic ,&nbsp;Aashish Srivastava ,&nbsp;Mariusz Gawrych ,&nbsp;Marzanna Ciesielka ,&nbsp;Nisha Rana ,&nbsp;Danijela Drakulic ,&nbsp;Marija Mojsin ,&nbsp;Milena Milivojevic ,&nbsp;Milena Stevanovic ,&nbsp;Grzegorz Teresiński ,&nbsp;Tomasz Grzybowski","doi":"10.1016/j.fsigen.2024.103173","DOIUrl":"10.1016/j.fsigen.2024.103173","url":null,"abstract":"<div><div>Biogeographical ancestry analysis is valuable in forensic investigations, especially in missing person cases or crimes without eyewitnesses, as it helps to infer geographic origins from genetic markers. This approach enhances forensic efforts by providing essential clues for identifying individuals with limited direct evidence. Slavic-speaking populations are poorly distinguishable based on human genome variability. However, recent studies show that even populations with close biogeographic origin could be differentiated based on salivary microbiomes. Nevertheless, the salivary microbiomes of Slavs have not been characterized yet. Therefore, this study aimed to compare the composition of the salivary microbiomes of Western and Southern Slavs’ representatives. 16S rRNA libraries from salivary microbiomes of 40 Poles (Western Slavs) and 40 Serbians (Southern Slavs) were prepared <em>via</em> PCR and sequenced on the MiSeq FGx platform (Illumina), giving approximately 100,000 reads per sample. Bioinformatic and statistical analyses were performed to assess the alpha and beta diversity of microbiomes and determine the differences in the abundance of bacterial genera between the groups studied. Analyses of alpha (ACE, Chao1, Shannon, and Simpson) and beta (Jaccard and Bray-Curtis dissimilarity) diversities in the salivary microbiomes clearly distinguished between Poles and Serbians. Alpha and beta diversity metrics were significantly higher in the Serbian population. <em>Fusobacterium, Lautropia, Porphyromonas, Actinobacillus, Capnocytophaga</em>, and <em>Kingella</em> were the most significantly increased genera in Serbians, whereas <em>Veillonella, Selenomonas, Megasphaera,</em> and <em>Atopobium</em> were more prevalent in Poles. In summary, our study identified significant differences in the salivary microbiomes of Poles and Serbians, with distinct microbial signatures associated with each population. These findings highlight the potential of salivary microbiome analysis as a tool for predicting biogeographic ancestry. Nevertheless, further analysis extended to other Slavic-speaking populations is necessary to clarify this issue.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"74 ","pages":"Article 103173"},"PeriodicalIF":3.2,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142635067","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}
引用次数: 0
Research on correlation between DNA typing and trace characteristics of blood after thermal exposure 研究热暴露后 DNA 分型与血液微量特征之间的相关性。
IF 3.2 2区 医学
Forensic Science International-Genetics Pub Date : 2024-11-05 DOI: 10.1016/j.fsigen.2024.103172
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 ,&nbsp;Jing Jin ,&nbsp;Jinzhuan Zhang ,&nbsp;Xiaoning Xu ,&nbsp;Chen Li ,&nbsp;Keli Guo ,&nbsp;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}
引用次数: 0
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