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The diatom test in the field of forensic medicine: a review of a long-standing question. 法医学领域的硅藻检验:对一个长期存在问题的回顾。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-18 DOI: 10.1007/s00414-024-03370-5
Bertrand Pierre Ludes, Arthur Chambre, Tania Delabarde

This article evaluates the criteria for diatom testing in forensic investigations, focusing on drowning cases. Diatoms, unicellular algae found in aquatic environments, are critical to the determination of drowning because water containing diatoms is inhaled during submersion. The primary objectives include defining the exact amount and type of tissue to be analyzed, expressed in terms of diatom concentration relative to tissue weight, and detailing the conditions under which water samples are collected to study the diatom flora at the site. In addition, the importance of accurately identifying diatom taxa and comparing them by unit weight is emphasized. To improve the reliability of diatom testing, the study discusses advanced methods such as microwave digestion, vacuum filtration, and automated scanning electron microscopy (MD-VF-Auto SEM), which offer higher sensitivity and specificity. The integration of DNA sequencing and deep learning techniques is explored, offering promising improvements in diatom detection and classification. These advances aim to reduce false positives and improve the accuracy of determining drowning as the cause of death. The article highlights the need for standardized protocols for diatom testing to ensure consistency and reliability. By incorporating new technologies and refining existing methods, the forensic application of diatom testing can be significantly improved, allowing for more accurate and reliable conclusions in drowning investigations.

本文以溺水案件为重点,评估了法医调查中硅藻检测的标准。硅藻是水生环境中发现的单细胞藻类,对溺水的判定至关重要,因为含有硅藻的水会在浸入水中时被吸入。主要目标包括确定要分析的组织的确切数量和类型(以硅藻浓度相对于组织重量表示),并详细说明在什么条件下收集水样以研究现场的硅藻群。此外,还强调了准确识别硅藻类群并按单位重量进行比较的重要性。为了提高硅藻检测的可靠性,该研究讨论了微波消解、真空过滤和自动扫描电子显微镜(MD-VF-Auto SEM)等先进方法,这些方法具有更高的灵敏度和特异性。此外,还探讨了 DNA 测序与深度学习技术的整合,从而有望改进硅藻检测和分类。这些进步旨在减少误报,提高将溺水确定为死因的准确性。文章强调了硅藻检测标准化协议的必要性,以确保一致性和可靠性。通过采用新技术和改进现有方法,硅藻检测的法医应用可以得到显著改善,从而在溺水调查中得出更准确、更可靠的结论。
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引用次数: 0
Computer tomography-based radiomics combined with machine learning for predicting the time since onset of epidural hematoma. 基于计算机断层扫描的放射组学与机器学习相结合,用于预测硬膜外血肿的发病时间。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-18 DOI: 10.1007/s00414-024-03374-1
Mingzhe Wu, Pengfei Wang, Hao Cheng, Ziyuan Chen, Ning Wang, Ziwei Wang, Chen Li, Linlin Wang, Dawei Guan, Hongzan Sun, Rui Zhao

Estimation of the age of epidural hematoma (EDH) is a challenge in clinical forensic medicine, and this issue has yet to be conclusively resolved. The advantages of objectivity and non-invasiveness make computing tomography (CT) imaging an potential diagnostic method for EDH in living individuals. Recently, radiomics, the extraction hidden information from medical images, has emerged as a promising method for constructing predictive models. The aim of this study is to explore the feasibility and applicability of CT-based radiomics in predicting the timing of EDH injuries in surviving victims. A cohort of 95 EDH cases with definite injured time (within 12 h since injury) was selected. Clinical characteristics (age, gender, injury time, bleeding location, bleeding volume, and fracture) were recorded. The datasets were divided randomly into training and test cohorts. LIFEx software was used to segment the hematoma area in the CT and extract radiomic features. Machine learning algorithms were applied for features selection and model building. Twenty-three features were selected to calculate the Radscore, a key metric in our analysis. Utilizing this Radscore in conjunction with the time since injury, we constructed an Ordinary Least Squared (OLS) model. Our validation study has shown that mean absolute error (MAE) of the test cohort was 2.42 h, indicating a high degree of accuracy. In order to enhance the accuracy of prediction, the dataset was divided into unstable phase, occurring within the first 5 h post injury, and the stable phases. The Random Forest algorithm presented a significant divergence in predictive performance between the two phases, achieving an area under the curve (AUC) of 0.79, with an accuracy of 75.86%. The MAE of the regression model was 1.05 h for the unstable phase, and 1.23 h for the stable phase. Our findings underscore the potential of CT-based radiomics to offer a novel, convenient, and efficient approach to dating EDH, promising to illuminate new avenues in the field of medical diagnostics.

硬膜外血肿(EDH)的年龄估计是临床法医学中的一项挑战,这一问题尚未得到最终解决。计算机断层扫描(CT)成像具有客观性和非侵入性的优点,是诊断活体硬膜外血肿的潜在方法。最近,从医学影像中提取隐藏信息的放射组学已成为构建预测模型的一种有前途的方法。本研究旨在探索基于 CT 的放射组学在预测幸存受害者 EDH 损伤时间方面的可行性和适用性。研究选取了 95 例有明确受伤时间(受伤后 12 小时内)的 EDH 病例。记录了临床特征(年龄、性别、受伤时间、出血部位、出血量和骨折情况)。数据集被随机分为训练组和测试组。使用 LIFEx 软件分割 CT 中的血肿区域并提取放射学特征。机器学习算法用于特征选择和模型建立。我们选择了 23 个特征来计算 Radscore,这是我们分析中的一个关键指标。利用 Radscore 和受伤后的时间,我们构建了一个普通最小二乘法(OLS)模型。我们的验证研究表明,测试队列的平均绝对误差(MAE)为 2.42 h,这表明预测具有很高的准确性。为了提高预测的准确性,我们将数据集分为受伤后 5 小时内的不稳定期和稳定期。随机森林算法在两个阶段之间的预测性能存在显著差异,曲线下面积(AUC)为 0.79,准确率为 75.86%。回归模型的 MAE 在不稳定期为 1.05 小时,在稳定期为 1.23 小时。我们的研究结果凸显了基于 CT 的放射组学提供一种新颖、便捷、高效的 EDH 测定方法的潜力,有望为医学诊断领域开辟新的道路。
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引用次数: 0
Testing the informativeness of Y-STR and mitochondrial DNA control region markers in an attempt to predict ancestry of World War II victims from Slovenian mass grave. 测试 Y-STR 和线粒体 DNA 控制区标记的信息量,尝试预测斯洛文尼亚万人坑中二战受害者的祖先。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-16 DOI: 10.1007/s00414-024-03368-z
Marcel Obal, Tomaž Zupanc, Irena Zupanič Pajnič

Identification of human remains is a challenge in forensic genetics without relatives or personal items available. In Slovenia, a Konfin II mass grave from the Second World War (WWII) was found, containing skeletal remains of 65 victims. The archival documents detailing victims' information describe 45 persons of which 33 could be considered Germanic and 12 Slavic. This study aims to check for concordance between the victim list and actual victims found by using uniparental markers to differentiate between Slavic and non-Slavic origin by attempting to infer ancestry by analyzing the control region (CR) of mitochondrial DNA (mtDNA) and Y-chromosomal STRs. Diaphyses of femurs were used as a DNA source. Next Generation Sequencing (NGS) technology was used for mtDNA- namely HID Ion Chef™ Instrument, Precision ID mtDNA Control Region Panel, and Ion GeneStudio™ S5 System. For the Y-chromosome, PowerPlex® Y23 System (Promega) kit and SeqStudio™ for human identification (HID) were used. European DNA Profiling mtDNA Population Database (EMPOP) and Y-Chromosome STR Haplotype Reference Database (YHRD) were searched for haplotype matches. Closest haplogroups were predicted using EMPOP, Y-DNA Haplogroup Predictor- NevGen, and Whit Athey's Haplogroup Predictor. Despite mitotypes being more diverse than Y-haplotypes, the Y-haplotypes had more database matches and more unequivocal differentiation between populations. 16 victims could be considered Slavic, 15 non-Slavic, and the remaining 34 had a rather scarce informativeness- either unclear or not providing any match. To address ancestry inference more comprehensively, analysis of autosomal ancestry informative markers as well as expansion on haploid markers will be conducted in future research.

在没有亲属或个人物品的情况下,遗骸鉴定是法医遗传学的一项挑战。在斯洛文尼亚,发现了一个第二次世界大战(WWII)时期的 Konfin II 乱葬坑,坑内有 65 具遇难者遗骸。档案文件详细描述了 45 名受害者的信息,其中 33 人被认为是日耳曼人,12 人是斯拉夫人。本研究旨在通过分析线粒体 DNA(mtDNA)控制区(CR)和 Y 染色体 STR 来推断祖先,从而使用单亲标记检查受害者名单与实际发现的受害者是否一致,以区分斯拉夫和非斯拉夫血统。股骨骺被用作 DNA 来源。mtDNA 采用新一代测序(NGS)技术,即 HID Ion Chef™ 仪器、Precision ID mtDNA 控制区面板和 Ion GeneStudio™ S5 系统。对于 Y 染色体,使用了 PowerPlex® Y23 系统(Promega)试剂盒和用于人类鉴定的 SeqStudio™ (HID)。在欧洲 DNA 分析 mtDNA 群体数据库(EMPOP)和 Y 染色体 STR 单倍型参考数据库(YHRD)中搜索单倍型匹配。使用 EMPOP、Y-DNA 单倍群预测器 NevGen 和 Whit Athey 的单倍群预测器预测了最接近的单倍群。尽管mitotypes比Y-单倍型更多样化,但Y-单倍型的数据库匹配度更高,人群之间的区分也更明确。16 名受害者可被视为斯拉夫人,15 名受害者为非斯拉夫人,其余 34 名受害者的信息相当匮乏--要么不清楚,要么没有提供任何匹配信息。为了更全面地解决祖先推断问题,今后的研究将对常染色体祖先信息标记进行分析,并扩大单倍体标记的范围。
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引用次数: 0
The place and outlook of legal medicine as a medical specialty in European countries. 法律医学作为医学专科在欧洲国家的地位和前景。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-15 DOI: 10.1007/s00414-024-03369-y
Kemalettin Acar
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引用次数: 0
Application of DSP2 for biological sex estimation in a Spanish sample: analysis based on sex and side. 在西班牙样本中应用 DSP2 进行生物性别估计:基于性别和侧面的分析。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-15 DOI: 10.1007/s00414-024-03358-1
Marta San-Millán, Varsha Warrier, Anna Carrera, Francisco Reina

Applying existing sexing methodologies to different populations, and reporting these findings is important to enhance their applicability and accuracy in real cases across the world. DSP was published in 2005 (Murail et al., 2005) and updated as a DSP2 in 2017 (Brůžek et al., 2017) based on a database of 10 pelvic measurements from 2040 individuals worldwide. These tools have been applied subsequently to various populations, however, its applicability to a dry Spanish population is lacking. 303 hipbones belonging to 157 individuals from the School of Legal Medicine from the University Complutense of Madrid (Spain), of which 140 individuals were documented, were analyzed to investigate the reliability, applicability and accuracy of the DSP2 sex estimation methodology, examining side and sex-based potential differences for the first time. In most of the DSP variables, intra-rater reliability showed excellent results and % applicability was higher than 85.0%. Overall % accuracy was higher than 94.0% regardless of the number or discriminant power of the utilized DSP variables. However, % sexing decreased when less variables or less discriminant ones were used for estimations, reaching 45.51% (left) and 43.31% (right). Regarding sexual dimorphism, females' results of % applicability, % sexing and % accuracy were higher compared to males. In addition, left os coxae achieved better outcomes (aforementioned percentages) in most of the cases in the sex-pooled sample. Decreasing the mandatory posterior probability by 10% yielded an increase in the % sexing but reduced % accuracy, and thus, does not seem to enhance the approach's performance. The present study validates the applicability and reliability of DSP for sexing a Spanish population. Future investigations will attempt to assess its applicability within virtual anthropology.

将现有的性别鉴定方法应用于不同人群,并报告这些发现对于提高其在全球真实案例中的适用性和准确性非常重要。DSP 于 2005 年发布(Murail 等人,2005 年),并于 2017 年更新为 DSP2(Brůžek 等人,2017 年),其基础是来自全球 2040 个个体的 10 个骨盆测量数据库。这些工具随后被应用到不同的人群中,但在干燥的西班牙人群中却缺乏适用性。为了研究 DSP2 性别估计方法的可靠性、适用性和准确性,我们对马德里康普斯顿大学(西班牙)法医学院 157 人的 303 块髋骨(其中 140 人有记录)进行了分析,首次研究了基于侧面和性别的潜在差异。在大多数 DSP 变量中,评分者内部的可靠性显示出极佳的结果,适用性百分比高于 85.0%。无论使用的 DSP 变量的数量或判别能力如何,总体准确率都高于 94.0%。然而,当使用的变量较少或判别能力较低时,性别准确率就会下降,分别为 45.51%(左侧)和 43.31%(右侧)。在性别二态性方面,雌性的适用率、性别鉴定率和准确率都高于雄性。此外,在性别汇总样本中的大多数情况下,左髋骨取得了更好的结果(上述百分比)。将强制性后验概率降低 10%,可提高性别鉴定率,但准确率却降低了,因此似乎并没有提高该方法的性能。本研究验证了 DSP 在西班牙人口性别鉴定中的适用性和可靠性。未来的研究将尝试评估其在虚拟人类学中的适用性。
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引用次数: 0
Forensic issues in autoerotic deaths: A 44-year systematic review and a case series from the legal medicine institutes of Bologna and Milan, Italy. 自虐致死的法医问题:意大利博洛尼亚和米兰法律医学研究所 44 年的系统回顾和系列案例。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-09 DOI: 10.1007/s00414-024-03367-0
Guido Pelletti, Nicola Galante, Lorenzo Franceschetti, Luca Berti, Maria Carla Mazzotti, Riccardo Zoia, Susi Pelotti

Autoerotic deaths, defined as accidental fatalities occurring during solitary sexual activities, show complex forensic challenges due to their different mechanisms and variable death scene presentations. This study combines a systematic review of global literature spanning 44 years (from 1980 to 2024) with a detailed case series analysis from the Legal Medicine Institutes of Bologna and Milan, Italy, to provide comprehensive insights into this phenomenon.The systematic review identified 67 relevant reports from databases namely Scopus, Web of Science, and PubMed. In parallel, a case series of 7 autoerotic fatalities was analyzed, highlighting victims' demographics, causes of death, and associated factors.Findings from 101 cases of autoerotic deaths included in the systematic review indicate a predominant prevalence of asphyxial deaths, with hanging being the most common method, followed by intoxication. The study underscores significant gender disparities, with men comprising most cases (n = 91), spanning a broader age range (12-87 y.o.) compared to women (17-48 y.o.). The findings are fully consistent with the Italian case series presented here, in which all the subjects were men aged 18 to 72 years, and the cause of death was asphyxia in 6 cases.Toxicological analyses played a crucial role in elucidating the cause and manner of death in most cases, yet their utilization varies widely, impacting data reliability and evaluation of the cause of death. Notably, the evidence of volatile substances, especially inhalants, creates an emerging area of interest with potential epidemiological and preventive implications. The systematic analysis revealed substantial variability in death scene characteristics and forensic procedures, emphasizing the need for standardized investigative protocols.This study highlights the multifaceted nature of autoerotic deaths and the importance of a holistic forensic approach encompassing death scene investigation, autopsy, and toxicological analysis. By enhancing the understanding and awareness about this phenomenon, this research aims to inform evidence-based practices in forensics, mitigate diagnostic uncertainties, and facilitate preventive interventions.

自慰死亡定义为在单独性活动中发生的意外死亡,由于其不同的机制和多变的死亡现场表现,显示出复杂的法医学挑战。本研究对全球 44 年(从 1980 年到 2024 年)的文献进行了系统回顾,并对意大利博洛尼亚和米兰的法医学院进行了详细的系列病例分析,从而对这一现象提供了全面的见解。与此同时,研究人员还分析了 7 例自体窒息死亡的系列病例,重点研究了受害者的人口统计学特征、死亡原因和相关因素。系统性综述中包含的 101 例自体窒息死亡病例的研究结果表明,窒息死亡占主导地位,最常见的死亡方式是上吊,其次是中毒。研究强调了显著的性别差异,男性占大多数(n = 91),与女性(17-48 岁)相比,年龄跨度更大(12-87 岁)。在大多数病例中,毒理学分析在阐明死因和死亡方式方面发挥了至关重要的作用,但毒理学分析的使用情况却大相径庭,影响了数据的可靠性和对死因的评估。值得注意的是,挥发性物质,尤其是吸入剂的证据成为一个新的关注领域,具有潜在的流行病学和预防意义。这项系统分析揭示了死亡现场特征和法医程序的巨大差异,强调了标准化调查规程的必要性。这项研究强调了自动窒息死亡的多面性,以及包括死亡现场调查、尸体解剖和毒理学分析在内的整体法医方法的重要性。通过加强对这一现象的理解和认识,本研究旨在为法医循证实践提供信息,减少诊断的不确定性,并促进预防性干预。
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引用次数: 0
Choice between DNA primer sets (A or B) of the ForenSeq kit: forensic evaluation in a Mexican admixed population sample. 选择 ForenSeq 套件的 DNA 引物组(A 或 B):墨西哥混血人口样本的法医评估。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-09 DOI: 10.1007/s00414-024-03366-1
José Alonso Aguilar-Velázquez, Mayra Elizabeth García-Aceves, Miranda Fabiola Córdova-Mercado, Mariano Guardado-Estrada, Emiliano Peña-Durán, Alexa Villavicencio-Queijeiro, Orlando Salas-Salas, Carolina Elena Coronado-Ávila, Christian Adrián Cárdenas-Monroy, Benito Ramos-González, Héctor Rangel-Villalobos

Massively parallel sequencing (MPS) overcomes many PCR-CE limitations to analyze STRs and allow simultaneous inclusion of SNPs in forensic cases. By MPS, the ForenSeq™ DNA Signature Prep kit analyzes 27 aSTRs, 7 X-STRs, 24Y-STRs, and 94 identity-informative SNPs (iiSNPs) with the DNA Primer Set-A (DPS-A). Optionally, the DNA Primer Set-B (DPS-B) adds to the analysis 56 ancestry-informative SNPs (aiSNPs) and 24 phenotype-informative SNPs (piSNPs), but diminishes from 96 to 32 the number of samples per sequencing run. We assessed the forensic informativity provided by the loci analyzed by these two DPS in admixed individuals from Mexico City (Center, Mexico). For STRs, we report length-based (LB) and sequence-based (SB) allele frequencies and forensic parameters of the 152 identity informative markers (DPS-A). For aSTRs, the combined PD of SB genotypes (PD ~ 100%) was ~ 2949 times larger than that from LB. Conversely, the observed phenotype distribution offered low PD levels (PD = 6.6% and 10.4%), whereas piSNPs predicted accurately only the modal brown eye and dark hair colors, respectively. Similarly, aiSNPs detected a large prevalence of admixed individuals (97.3%; PD = 5.4%). Although few individuals were inferred as Europeans and Native Americans (1.37% each), they were self-declared as admixed, which result confusing for HID purposes. In brief, SB genotypes increased significantly the informativity of STRs to solve complex cases (DPS-A), whereas aiSNPs and piSNPs added mostly irrelevant information (DPS-B). We provide useful cost-benefit criteria in one Latin American population to choose DPS-A (96 samples) instead of DPS-B (32 samples) of the Forenseq kit.

大规模平行测序(MPS)克服了 PCR-CE 在分析 STR 方面的许多局限性,可同时将 SNP 纳入法医案件。通过 MPS,ForenSeq™ DNA Signature Prep 套件利用 DNA 引物组-A(DPS-A)分析 27 个 aSTR、7 个 X-STR、24 个 Y-STR 和 94 个身份信息 SNPs (iiSNPs)。DNA 引物组-B(DPS-B)可选择增加 56 个祖先信息 SNPs(aiSNPs)和 24 个表型信息 SNPs(piSNPs)的分析,但每次测序运行的样本数量从 96 个减少到 32 个。我们在墨西哥城(墨西哥中心)的混血个体中评估了这两个 DPS 所分析的位点所提供的法医信息量。对于 STRs,我们报告了基于长度(LB)和基于序列(SB)的等位基因频率以及 152 个身份信息标记(DPS-A)的法证参数。对于 aSTRs,SB 基因型的综合 PD(PD ~ 100%)是 LB 基因型的 ~ 2949 倍。相反,观察到的表型分布提供了较低的 PD 水平(PD = 6.6% 和 10.4%),而 piSNPs 仅分别准确预测了棕色眼睛和深色头发的模态颜色。同样,aiSNPs 也检测到了大量混血个体(97.3%;PD = 5.4%)。虽然很少有人被推断为欧洲人和美洲原住民(各占 1.37%),但他们都自我声明为混血儿,这导致了 HID 目的的混淆。简而言之,SB 基因型大大提高了 STR 在解决复杂案件方面的信息量(DPS-A),而 aasSNPs 和 piSNPs 则增加了大部分无关信息(DPS-B)。我们在一个拉丁美洲人群中提供了有用的成本效益标准,以选择 Forenseq 套件的 DPS-A(96 个样本)而不是 DPS-B(32 个样本)。
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引用次数: 0
Patellae as a source of DNA in forensic and archaeological analysis. 髌骨作为法医和考古分析中的 DNA 来源。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-08 DOI: 10.1007/s00414-024-03363-4
Živa Miriam Geršak, Aja Golob, Pia Kravanja, Monica Concato, Tamara Leskovar, Irena Zupanič Pajnič

Analysing genetic material from skeletonised human remains has become valuable in forensic and archaeological contexts. While the petrous bone is often preferred for DNA extraction, its availability is not guaranteed, and because of destructive sampling, it is not frequently used in forensic cases. This study explores the potential of patellae as an alternative source of bone material for genetic investigations. Forty-five patellae were sampled from a post-World War II mass grave and an archaeological Christian cemetery dated from the 13th to 19th centuries. A full demineralisation extraction method was used to obtain the DNA, and real-time PCR quantification was used to determine the quantity and quality of DNA. To evaluate the suitability of patellae for forensic and archaeological analyses, short tandem repeat (STR) typing was performed using the ESI17 Fast PCR amplification kit (Promega). To explore the difference in DNA yield, DNA degradation and STR typing success between the post-World War II and archaeological patellae, statistical analysis was performed. The results revealed significantly higher DNA yield and STR typing success in WWII patellae and higher degradation of DNA in archaeological patellae, highlighting the impact of environmental exposure time on genetic material preservation. Almost all WWII patellae achieved a high success rate in STR typing with full profiles generated. More than half of the archaeological patellae showed high STR typing performance and highly informative partial profiles were obtained, indicating the suitability of patellae not only for forensic purposes but also for archaeological genetic analyses.

在法医学和考古学中,对骸骨化人类遗骸中的遗传物质进行分析已变得非常重要。虽然提取 DNA 时通常首选岩石骨,但其可用性无法保证,而且由于取样具有破坏性,因此在法医案件中并不常用。本研究探讨了髌骨作为基因调查的替代骨材料来源的潜力。研究人员从一个二战后的乱葬坑和一个 13 至 19 世纪的基督教考古墓地中采集了 45 块髌骨样本。采用完全脱矿提取法获得 DNA,并通过实时 PCR 定量来确定 DNA 的数量和质量。为了评估髌骨是否适合用于法医和考古分析,使用ESI17快速PCR扩增试剂盒(Promega)进行了短串联重复(STR)分型。为了探究二战后髌骨与考古髌骨在DNA产量、DNA降解和STR分型成功率方面的差异,我们进行了统计分析。结果显示,二战后髌骨的DNA产量和STR分型成功率明显较高,而考古髌骨的DNA降解率较高,这凸显了环境暴露时间对遗传物质保存的影响。几乎所有二战髌骨的 STR 分型成功率都很高,并生成了完整的图谱。半数以上的考古髌骨显示出很高的 STR 分型成功率,并获得了信息量很大的部分图谱,这表明髌骨不仅适用于法医目的,也适用于考古遗传分析。
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引用次数: 0
Exploring the genetic implications of demographic dynamics in Jammu and Kashmir using autosomal STRs. 利用常染色体 STR 探索查谟和克什米尔人口动态的遗传影响。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-07 DOI: 10.1007/s00414-024-03364-3
Nadeem Mubarik, Masroor Ahmad Ganei, Shivani Dixit, R K Kumawat, Jaison Jeevan Sequeira, Naseer Ahmad Ahangar, Shahul Ahmad Kanth, Imtiyaz Ahmad Dar, Ishrat Mushtaq, Mohammad Mohsin, Mohammed S Mustak, Gyaneshwer Chaubey, Sania Hamid, Pankaj Shrivastava

The Union Territory of Jammu and Kashmir has always been a point of contention among India, Pakistan, and China for various reasons. This region has great significance historically due to its geography and ethnic diversity. However, a comprehensive genetic study providing the genetic landscape of Jammu and Kashmir was lacking until now. In this study, we analysed 21 hyper-variable autosomal STR loci of 694 individuals from Jammu and Kashmir and compared them with neighbouring populations to explore the genetic implications of demographic dynamics that have taken place in this region. Our findings suggest that the population of Jammu and Kashmir is a genetic mixture of two major clines, northern and southern, that correspond with the variation in geography, linguistics, and demography of the region. Broadly, the gene flow into the southern cline appears to be in historical times perhaps as a result of the spread of Gurjars, Dogri language and invasions of Mongols. However, the arrival of ancient nomadic tribes into this region may belong to the time depth of the arrival of pastoralist communities in this region. As a future perspective, a comprehensive study including samples from individual tribes will provide fine-scale structure of the gene pool of Jammu and Kashmir.

由于种种原因,查谟和克什米尔联邦领土一直是印度、巴基斯坦和中国之间的争议焦点。由于其地理位置和民族多样性,该地区在历史上具有重要意义。然而,到目前为止,还缺乏一项全面的遗传研究来提供查谟和克什米尔地区的遗传景观。在这项研究中,我们分析了查谟和克什米尔地区 694 个个体的 21 个超变异常染色体 STR 位点,并将其与邻近人群进行比较,以探索该地区人口动态变化的遗传影响。我们的研究结果表明,查谟和克什米尔地区的人口是由北方和南方两大支系组成的遗传混合物,这与该地区的地理、语言和人口统计学差异相吻合。从广义上讲,基因流向南部支系似乎是历史时期的事,也许是古尔贾尔人、多格里语的传播和蒙古人入侵的结果。不过,古代游牧部落进入这一地区的时间深度可能属于牧民群体进入这一地区的时间深度。从未来的角度来看,一项包括各个部落样本的综合研究将提供查谟和克什米尔基因库的精细结构。
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引用次数: 0
How to best assess shedder status: a comparison of popular shedder tests. 如何最好地评估脱落细胞状态:流行的脱落细胞测试比较。
IF 2.2 3区 医学 Q1 MEDICINE, LEGAL Pub Date : 2024-11-07 DOI: 10.1007/s00414-024-03351-8
Darya Ali, Roland A H van Oorschot, Adrian Linacre, Mariya Goray

"Shedder status" describes the inherent variation between individuals to leave touch DNA on a surface through direct contact. Depending on the amount and quality of DNA or cellular deposition, individuals are typically deemed high, intermediate, or low shedders. Although many shedder tests have been described, variability in study design and categorisation criteria has limited the ability of researchers to accurately compare results, as well as accrue the necessary population data. As activity level reporting becomes more common, the need for reliable and standardised testing increases. To assess reproducibility, this study compared shedder status data generated by six participants using three different shedder tests, as modified from the literature. This involved DNA quantification and profiling of a handprint made on a glass plate, DNA quantification and profiling of a grip mark made on a plastic conical tube, and cell scoring of a Diamond™ Dye-stained fingermark. All participants washed and dried their hands fifteen minutes before each deposit. To assess the impact of behaviour on shedder designation, participants either refrained from activity or went about their daily tasks during this wait. The shedder status of participants changed between tests, as DNA-based testing often generated lower shedder statuses than cell scores. Further, when different categorisation methods were applied to a single test, intra-person variability increased as the number of shedder designations increased from two (low/high) to five (low/low-intermediate/intermediate/intermediate-high/high). Moving forward, the utilisation of a single shedder test and standardised categorisation criteria is needed to employ shedder testing in forensic casework.

"脱落者状态 "是指个体之间通过直接接触在物体表面留下接触 DNA 的固有差异。根据 DNA 或细胞沉积的数量和质量,个体通常被视为高、中或低脱落者。虽然已有许多脱落者测试方法,但研究设计和分类标准的差异限制了研究人员准确比较结果和积累必要人群数据的能力。随着活动水平报告越来越普遍,对可靠和标准化测试的需求也在增加。为了评估可重复性,本研究比较了六名参与者使用三种不同的脱落者检测方法(根据文献修改)得出的脱落者状态数据。这包括对玻璃板上的手印进行 DNA 定量和特征分析,对塑料锥形管上的抓痕进行 DNA 定量和特征分析,以及对 Diamond™ 染色指痕进行细胞评分。所有参与者都在每次存款前 15 分钟洗手并擦干双手。为了评估行为对脱落者认定的影响,参与者在等待期间要么停止活动,要么继续做日常工作。参与者的脱落细胞状态在两次检测之间会发生变化,因为基于 DNA 的检测通常会产生比细胞评分更低的脱落细胞状态。此外,在一次测试中采用不同的分类方法时,随着脱落细胞数量从两种(低/高)增加到五种(低/低-中/中/中-高/高),人与人之间的差异也随之增加。展望未来,在法医办案中采用脱落细胞检测时,需要使用单一脱落细胞检测和标准化分类标准。
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International Journal of Legal Medicine
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