Forensic Science International-Genetics最新文献_第9页

DNA alloys: The enduring story of touch DNA on metals DNA合金：触摸DNA在金属上的持久故事

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-31 DOI: 10.1016/j.fsigen.2025.103335

Caitlin McDonald , Madison Nolan , Liam Lepore , Adrian Linacre

The successful analyses of DNA obtained from cellular deposits on metal substrates is an on-going issue with many metallic substrates inhibiting downstream enzymatic reactions. To examine this problem further, we report on the monitoring of persistence of cells deposited by touch on a range of metal surfaces using the DNA binding dye, Diamond Dye. Fingerprints were deposited in defined areas on metal substrates and stained with Diamond Dye. The cells were recorded at time points from initial deposition through to four weeks. Cells deposited on a glass microscope acted as a control. Little cell loss was recorded over the 4-week period on cells deposited on glass, nickel, stainless steel, and zinc. Unusual patterns of cell loss were recorded for cells deposited on copper and brass. Cells deposited on aluminium showed the greatest cell loss, nearly 22 %, contrasting with a loss of 4.5 % for cells deposited on glass (control). Whole thumbprints were deposited on the same substrates and stored for four weeks after which cellular material was removed using a swab and the DNA analysed using quantification and STR amplification. While cells deposited on copper did not record the greatest cell loss over the four weeks compared to the other metal substrates, when quantified and profiled, the whole thumbprints produced the least informative DNA profiles. No notable inhibition was recorded by qPCR for any sample, but degradation was indicated for both the brass and copper deposits. The data confirms that there are interactions between metallic surfaces and DNA and the substrate and DNA binding dye, which made cell visualisation difficult on brass and copper substrates. However, it also highlights that these metal-DNA interactions are causing DNA degradation on the copper and brass substrates that affect subsequent profile quality.

从金属底物的细胞沉积物中获得的DNA的成功分析是一个持续的问题，许多金属底物抑制下游酶促反应。为了进一步研究这个问题，我们报告了使用DNA结合染料钻石染料，通过触摸沉积在一系列金属表面上的细胞的持久性监测。指纹沉积在金属基材上的指定区域，并用金刚石染料染色。记录细胞从初始沉积到4周的时间点。放置在玻璃显微镜上的细胞作为对照。在4周的时间里，沉积在玻璃、镍、不锈钢和锌上的细胞几乎没有损失。沉积在铜和黄铜上的细胞有不同寻常的细胞损失模式。沉积在铝上的细胞损失最大，接近22% %，而沉积在玻璃（对照）上的细胞损失为4.5% %。将整个指纹沉积在相同的底物上并保存四周，之后用拭子去除细胞物质，并使用定量和STR扩增分析DNA。虽然与其他金属基质相比，沉积在铜上的细胞在四周内没有记录到最大的细胞损失，但当进行量化和分析时，整个指纹产生的DNA图谱信息最少。qPCR对任何样品均无明显抑制作用，但对黄铜和铜矿均有降解。数据证实，金属表面与DNA、底物和DNA结合染料之间存在相互作用，这使得在黄铜和铜底物上观察细胞变得困难。然而，它也强调了这些金属-DNA相互作用会导致铜和黄铜衬底上的DNA降解，从而影响随后的剖面质量。

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引用次数: 0

Forensic pathological and genetic landmarks in sudden cardiac death in the young: An update 年轻人心源性猝死的法医病理学和遗传标志：最新进展

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-30 DOI: 10.1016/j.fsigen.2025.103334

Simone Grassi , Oscar Campuzano , Elisa Ferri , Giorgia Leone , Riccardo Rossi , Marisa Ortega-Sánchez , Eneko Barberia , Ines Landin , Vincenzo Arena , Georgia Sarquella-Brugada , Ramon Brugada , Antonio Oliva

An episode of sudden death in a young individual is a dramatic event for family members but also a challenge for cardiologists, pediatricians, forensic pathologists and researchers. In the young population, most of sudden deaths are of cardiac origin, in particular due to hereditary cardiac disorders. The autopsy protocol includes a proper macroscopic heart examination and a comprehensive histological analysis. The identification of pathognomonic histopathologic findings may help to unravel the cause of death, but microscopic features are often non-specific and highly ambiguous. Negative autopsy leads to classify the decease as a sudden arrhythmic death syndrome despite concealed cardiomyopathies may be also suspected. The molecular autopsy helps to identify the pathogenic genetic alteration associated with the arrhythmogenic episode leading to the sudden cardiac death. Due to genetic diseases, clinical assessment and genotype-phenotype correlation of relatives is mandatory to early identification of family members at risk and thus adoption of preventive measures, especially in asymptomatic genetic carriers. Specialized teams must carry out a personalized interpretation, integrating all the autopsy findings along with the family history to obtain a conclusive cause of the sudden death. In this review we pretend to update these critical issues.

年轻人突然死亡对家庭成员来说是一个戏剧性的事件，但对心脏病专家、儿科医生、法医病理学家和研究人员来说也是一个挑战。在年轻人中，大多数猝死是由心脏原因引起的，特别是遗传性心脏疾病。尸检方案包括适当的宏观心脏检查和全面的组织学分析。病理组织学发现的鉴定可能有助于揭示死亡原因，但显微镜特征往往是非特异性和高度模糊的。阴性尸检导致将死亡归类为突然心律失常死亡综合征，尽管隐藏的心肌病也可能被怀疑。分子解剖有助于确定与导致心源性猝死的心律失常发作相关的致病基因改变。由于遗传病，临床评估和亲属的基因型-表型相关性是必要的，以便早期发现有风险的家庭成员，从而采取预防措施，特别是对无症状的遗传携带者。专业小组必须进行个性化的解释，将所有尸检结果与家族史结合起来，以获得决定性的猝死原因。在这篇评论中，我们假装更新这些关键问题。

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引用次数: 0

A robust cross-tissue DNA methylation model for forensic age estimation from oral samples 一个健壮的跨组织DNA甲基化模型，用于口腔样本的法医年龄估计

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-23 DOI: 10.1016/j.fsigen.2025.103331

Yuzhu Liu, Maomin Chen, Ya Li, Liqi Wang, Aoyun Du, Yujia Lin, Shaohua Yi, Chao Xiao, Daixin Huang

DNA methylation-based chronological age estimation is a powerful forensic tool, but its application to commonly encountered oral-derived samples (e.g., buccal swabs, saliva) is hampered by tissue specificity and inherent cellular heterogeneity, often leading to inaccurate predictions with existing models. This study aimed to overcome these limitations by developing and validating a robust cross-tissue DNA methylation model for forensic age estimation from such samples. We quantified DNA methylation at 18 CpG sites in 216 paired buccal swab and saliva samples (Han Chinese, 2–83 years) and systematically evaluated 32 model configurations—varying CpG marker panels, age transformation, and tissue variable inclusion—to identify markers with high cross-tissue stability and optimize predictive accuracy. An optimized 10-CpG quantile regression model achieved mean absolute errors (MAEs) of 3.19 years (buccal swabs), 3.44 years (saliva), and 3.45 years (combined dataset) in 10-fold cross-validation. Crucially, this model demonstrated excellent performance on an independent validation set of forensically relevant chewed gum samples (n = 25, aged 19–70 years; MAE = 3.29 years). The model also maintained reliable performance with bisulfite-converted DNA inputs as low as 5 ng and remained stable after 31 days of uncontrolled environmental storage. Our findings establish a methodologically sound and practically validated cross-tissue approach for forensic age estimation from diverse oral samples, offering a reliable solution to the challenges of tissue variability and cellular heterogeneity in real-world casework.

基于DNA甲基化的实足年龄估计是一种强大的法医工具，但其应用于常见的口腔来源样本（例如，口腔拭子，唾液）受到组织特异性和固有细胞异质性的阻碍，通常导致现有模型的预测不准确。本研究旨在通过开发和验证一个强大的跨组织DNA甲基化模型来克服这些局限性，用于从这些样本中估计法医年龄。我们量化了216对口腔拭子和唾液样本（2-83岁的汉族）中18个CpG位点的DNA甲基化，并系统地评估了32种模型配置——不同的CpG标记面板、年龄转换和组织变量包含——以确定具有高跨组织稳定性和优化预测准确性的标记。优化的10-CpG分位数回归模型在10倍交叉验证中实现了3.19年（口腔拭子）、3.44年（唾液）和3.45年（组合数据集）的平均绝对误差（MAEs）。至关重要的是，该模型在法医相关口香糖样本的独立验证集上表现出优异的性能(n = 25，年龄19-70岁；MAE = 3.29年)。该模型在亚硫酸氢盐转化的DNA输入低至5 ng时也保持了可靠的性能，并且在不受控制的环境储存31天后保持稳定。我们的研究结果为不同口腔样本的法医年龄估计建立了一种方法学上合理且实际有效的跨组织方法，为现实世界案例中组织变异性和细胞异质性的挑战提供了可靠的解决方案。

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引用次数: 0

A novel approach to combine qPCR and STR amplification for DNA profiling 结合qPCR和STR扩增进行DNA分析的新方法

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-23 DOI: 10.1016/j.fsigen.2025.103332

Caitlin McDonald , Duncan Taylor , Russell Brinkworth , Adrian Linacre

An initial step in the development of a smart PCR machine, capable of amending the cycling parameters when amplifying STR alleles, is to monitor PCR progression in real-time. Performing qPCR allows for the real-time monitoring and recording of amplification of control loci: comprised of a small and large amplicon, a positive control, and a section of the Y chromosome. This qPCR data enables the recording of degradation and inhibition, as the fluorescence during qPCR theoretically should follow an exponential increase. Hypothetically, combining qPCR with STR amplification would allow real-time quantification of fluorescence such that the parameters of the PCR could be modified to optimise STR amplification: fluorescence below expectation would indicate a need to amend the PCR parameters to improve the DNA amplification. In this study, two different commercially available qPCR kits were combined separately with one of four different STR kits, and the resulting STR profile quality was recorded. Controls were performed by amplifying the same quantity of DNA template for each of the four STR kits, with all standard single and combined amplifications performed five times, resulting in 60 amplifications in total. No significant decrease in profile quality or likelihood ratios were recorded for any of the combinations. There were no adverse effects on the STR amplification when performed on a real-time PCR machine, despite two different enzymes and the presence of additional primers requiring differing temperatures to bind. These data are needed as the first step towards a smart PCR machine that can adjust cycling parameters in real-time.

开发智能PCR机的第一步是实时监测PCR进展，在扩增STR等位基因时能够修改循环参数。执行qPCR允许实时监测和记录控制位点的扩增：由大小扩增子，阳性对照和Y染色体的一部分组成。该qPCR数据能够记录降解和抑制，因为qPCR期间的荧光理论上应该遵循指数增长。假设，将qPCR与STR扩增相结合可以实时定量荧光，从而可以修改PCR参数以优化STR扩增：荧光低于预期将表明需要修改PCR参数以提高DNA扩增。在本研究中，将两种不同的市售qPCR试剂盒分别与四种不同的STR试剂盒中的一种组合，并记录所得STR图谱的质量。对照对四种STR试剂盒扩增相同数量的DNA模板，所有标准的单扩增和联合扩增进行5次，总共扩增60次。任何组合均未记录到剖面质量或似然比的显著下降。尽管存在两种不同的酶和需要不同温度结合的额外引物，但在实时PCR机上进行STR扩增时没有不良影响。这些数据需要作为智能PCR机的第一步，可以实时调整循环参数。

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引用次数: 0

Minimum FSI: Genetics requirements for publishing data on DNA transfer and recovery, given activities 最低FSI：发布DNA转移和恢复数据的遗传学要求，给定活动。

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-22 DOI: 10.1016/j.fsigen.2025.103330

Peter Gill, Tacha Hicks, Bas Kokshoorn, Roland A.H. van Oorschot, Duncan Taylor, Walther Parson

引用次数: 0

Probabilities of finding trace profile donors and their paternal relatives in Y-STR reference databases 在Y-STR参考数据库中发现微量供体及其父系亲属的概率

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-21 DOI: 10.1016/j.fsigen.2025.103320

Tóra Oluffa Stenberg Olsen , Niels Morling , Poul Svante Eriksen , Marie-Louise Kampmann , Helle Smidt Mogensen , Mikkel Meyer Andersen

Forensic investigative genetic genealogy using Y-chromosome short tandem repeat (Y-STR) DNA profiles can give investigative leads in criminal cases by searching for the Y-STR trace profile or similar but not identical Y-STR profiles in relevant Y-STR databases. We conducted a simulation study with Yfiler

^{TM}

Plus and PowerPlex® Y23 Y-STR profiles to estimate the probabilities of finding matches and near-matches in Y-STR databases. The success rate of finding the trace profile donors or their close relatives was quantified. We used the malan R software package to simulate the populations based on the Wright-Fisher model with the YHRD Y-STR mutation rates where uncertainties were incorporated in a Bayesian manner, a variance in reproductive success of 0.2, and a constant size for 100 generations followed by a 2% growth for 150 generations. Y-STR databases were generated by randomly drawing Y-STR profiles from a Yfiler

^{TM}

Plus and PowerPlex® Y23 Y-STR population data set, respectively.

In a population of

500, 066

individuals, a database size of 0.5% of the population resulted in a Y-STR database match probability of ca. 6% and 10% for Yfiler

^{TM}

Plus and PowerPlex® Y23, respectively. Increasing the database size to 5% of the population resulted in a Y-STR match probability of ca. 41% and 54% for Yfiler

^{TM}

Plus and PowerPlex® Y23, respectively. When a Y-STR match was found in the database, the probability of one of the individuals with the matching profiles being related within five meioses to the trace donor was ca. 64% and 56% for Yfiler

^{TM}

Plus and PowerPlex® Y23, respectively, including the cases where the Y-STR profile originated from the donor. In this case, the closest relative in the database was found among the matching individuals with a probability of ca. 91%.

利用y染色体短串联重复序列（Y-STR） DNA图谱进行法医调查遗传谱系分析，可以通过在相关的Y-STR数据库中搜索Y-STR痕迹图谱或相似但不相同的Y-STR图谱，为刑事案件的调查提供线索。我们使用YfilerTM Plus和PowerPlex®Y23 Y-STR剖面进行了模拟研究，以估计在Y-STR数据库中找到匹配和接近匹配的概率。对寻找微量供体及其近亲属的成功率进行了量化。我们使用malan R软件包基于Wright-Fisher模型模拟种群，其中YHRD Y-STR突变率以贝叶斯方式纳入不确定性，繁殖成功率方差为0.2,100代恒定大小，150代增长2%。Y-STR数据库分别从YfilerTM Plus和PowerPlex®Y23 Y-STR种群数据集中随机抽取Y-STR图谱生成。在500,066个个体的种群中，数据库大小为种群的0.5%，YfilerTM Plus和PowerPlex®Y23的Y-STR数据库匹配概率分别为约6%和10%。将数据库大小增加到种群的5%，YfilerTM Plus和PowerPlex®Y23的Y-STR匹配概率分别为约41%和54%。当在数据库中发现Y-STR匹配时，YfilerTM Plus和PowerPlex®Y23中具有匹配基因的个体与追踪供者在5倍染色体内相关的概率分别为约64%和56%，包括Y-STR基因来源于供者的情况。在这种情况下，在匹配个体中发现数据库中最接近的亲属的概率约为91%。

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引用次数: 0

Corrigendum to “Large-scale selection of highly informative microhaplotypes for ancestry inference and population specific informativeness” [Forensic Sci. Int.: Genet. 74 (2024) 103153] “用于祖先推断和群体特定信息的高信息性微单倍型的大规模选择”的勘误表[法医科学]。Int。[j].生物医学工程学报，2016,32(5):391 - 391。

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-10 DOI: 10.1016/j.fsigen.2025.103319

Maria Luisa de Barros Rodrigues , Marcelo Porto Rodrigues , Heather L. Norton , Celso Teixeira Mendes-Junior , Aguinaldo Luiz Simões , Daniel John Lawson

引用次数: 0

Letter to the editor: Reassessing STR-based haplogroup prediction for underrepresented clades like J2b1 致编辑的信：重新评估基于str的单倍群预测，如J2b1等代表性不足的分支

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-07-05 DOI: 10.1016/j.fsigen.2025.103318

Tareef Fadhil Raham

引用次数: 0

Should the police use genetic genealogy databases to assist in solving crime? Survey among university students 警方是否应该使用基因家谱数据库来协助破案？大学生调查

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-06-20 DOI: 10.1016/j.fsigen.2025.103317

Hannah Marlor, Kate Randall, Aaron Opoku Amankwaa

Genetic genealogy databases have been utilised as a novel tool by law enforcement to generate leads in difficult criminal investigations. This technique involves searching ancestry databases that contain voluntarily uploaded DNA to identify genetic relatives of unknown suspects. The arrest of the notorious Golden State Killer using this method in 2018 brought the use of these techniques into the public eye. However, public perspectives on whether law enforcement should be granted access to this information is understudied. This study explored the attitudes towards police access to genetic genealogy amongst 373 university students through an online survey. Overall, students expressed moderate conditional support, with higher support levels for investigation of violent crimes (76 %) and crimes against children (78 %) compared to reluctant support for non-violent crimes (60 %). Women displayed greater support than men for police access (p < 0.05) in cases of violent crime (86 % vs. 75 %), crimes against children (87 % vs. 72 %), missing persons (84 % vs 76 %), and identifying human remains (88 % vs 78 %). Younger students aged 18–24 exhibited higher support for police access for violent crimes and missing persons cases than older students aged 35–50 (p < 0.05) (85 % vs. 76 %, and 86 % vs. 72 %, respectively). Qualitative findings emphasised participants’ desire for oversight and protecting individual rights through warrant requirements to prevent overreach, whilst allowing societal benefits. This study provides initial evidence that educated young people recognise the potential forensic value of police access to genetic genealogy but favour strict regulations that reflect crime severity. This data can inform policy debates and legislative frameworks, balancing the utility and ethics of emerging genetic technologies. Further research across diverse populations is required to guide well informed legislations.

遗传家谱数据库已被执法部门用作在困难的刑事调查中产生线索的新工具。这项技术包括搜索祖先数据库，其中包含自愿上传的DNA，以识别未知嫌疑人的遗传亲属。2018年，臭名昭著的金州杀手使用这种方法被捕，使这些技术的使用进入了公众的视野。然而，公众对执法部门是否应该获得这些信息的看法尚未得到充分研究。本研究以373名大学生为对象，透过网路调查，探讨他们对警方取得遗传家谱的态度。总体而言，学生对调查暴力犯罪（76% %）和侵害儿童犯罪（78% %）的支持程度较高，而对非暴力犯罪（60% %）的不情愿支持程度较低。女性比男性更大支持显示警察访问(p & lt; 0.05)在暴力犯罪的情况下(75年86 %与 %),针对儿童的犯罪(87 % vs 72 %),失踪人口(84 vs 76  % %),并确定人类遗骸(88 vs 78  % %)。18-24岁学生对警察介入暴力犯罪和失踪案件的支持度高于35-50岁学生（p <； 0.05）（85 %比76 %，86 %比72 %）。定性调查结果强调了参与者希望通过授权要求进行监督和保护个人权利，以防止越权，同时允许社会效益。这项研究提供了初步证据，表明受过教育的年轻人认识到警方获得基因谱系的潜在法医价值，但倾向于反映犯罪严重程度的严格规定。这些数据可以为政策辩论和立法框架提供信息，平衡新兴基因技术的效用和伦理。需要对不同人群进行进一步研究，以指导知情的立法。

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引用次数: 0

Advancing biogeographical ancestry predictions through machine learning 通过机器学习推进生物地理祖先预测

IF 3.2 2区医学 Q2 GENETICS & HEREDITY

Forensic Science International-Genetics

Pub Date : 2025-06-13 DOI: 10.1016/j.fsigen.2025.103290

Carola Sophia Heinzel , Lennart Purucker , Frank Hutter , Peter Pfaffelhuber

Tools like Snipper or the Admixture Model count as state-of-the-art methods in forensic science for biogeographical ancestry. However, they have not been systematically compared to classifiers widely used in other disciplines. Noting that genetic data have a tabular form, this study addresses this gap by benchmarking forensic classifiers against TabPFN, a cutting-edge, general-purpose machine learning classifier for tabular data. The comparison evaluates performance using metrics such as accuracy – the proportion of correct classifications – and ROC AUC. We examine classification tasks for individuals at both the intracontinental and continental levels, based on a published dataset for training and testing. Our results reveal significant performance differences between methods, with TabPFN consistently achieving the best results for accuracy, ROC AUC and log loss. E.g., for accuracy, TabPFN improves SNIPPER from 84% to 93% on a continental scale using eight populations, and from 43% to 48% for inter-European classification with ten populations.

像“狙击手”或“混合模型”这样的工具在生物地理祖先的法医科学中被视为最先进的方法。然而，它们还没有被系统地与其他学科中广泛使用的分类器进行比较。注意到遗传数据具有表格形式，本研究通过对法医分类器与TabPFN（一种用于表格数据的尖端通用机器学习分类器）进行基准测试来解决这一差距。比较使用诸如准确性（正确分类的比例）和ROC AUC等指标来评估性能。我们基于已发布的训练和测试数据集，在大陆内和大陆层面检查个体的分类任务。我们的研究结果揭示了不同方法之间的显著性能差异，TabPFN始终在准确性、ROC AUC和对数损失方面取得最佳结果。例如，在准确性方面，TabPFN在大陆范围内使用8个种群将SNIPPER从84%提高到93%，在欧洲间分类中使用10个种群将其从43%提高到48%。

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引用次数: 0