Kuo Zeng, Jiang Du, Yun-Zhou Chen, Dan-Yang Wang, Mao-Ling Sun, Yu-Zhang Li, Dong-Yi Wang, Shu-Han Liu, Xiu-Mei Zhu, Peng Lv, Zhe Du, Kun Liu, Jun Yao
{"title":"Metabolomics efficiently discriminates monozygotic twins in peripheral blood.","authors":"Kuo Zeng, Jiang Du, Yun-Zhou Chen, Dan-Yang Wang, Mao-Ling Sun, Yu-Zhang Li, Dong-Yi Wang, Shu-Han Liu, Xiu-Mei Zhu, Peng Lv, Zhe Du, Kun Liu, Jun Yao","doi":"10.1007/s00414-024-03269-1","DOIUrl":"10.1007/s00414-024-03269-1","url":null,"abstract":"<p><p>Monozygotic (MZ) twins cannot be distinguished using conventional forensic STR typing because they present identical STR genotypings. However, MZ twins do not always live in the same environment and often have different dietary and other lifestyle habits. Metabolic profiles are deyermined by individual characteristics and are also influenced by the environment in which they live. Therefore, they are potential markers capable of identifying MZ twins. Moreover, the production of proteins varies from organism to organism and is influenced by both the physiological state of the body and the external environment. Hence, we used metabolomics and proteomics to identify metabolites and proteins in peripheral blood to discriminate MZ twins. We identified 1749 known metabolites and 622 proteins in proteomic analysis. The metabolic profiles of four pairs of MZ twins revealed minor differences in intra-MZ twins and major differences in inter-MZ twins. Each pair of MZ twins exhibited distinct characteristics, and four metabolites-methyl picolinate, acesulfame, paraxanthine, and phenylbenzimidazole sulfonic acid-were observed in all four MZ twin pairs. These four differential exogenous metabolites conincidently show that the different external environments and life styles can be well distinguished by metabolites, considering that twins do not all have the same eating habits and living environments. Moreover, MZ twins showed different protein profiles in serum but not in whole blood. Thus, our results indicate that differential metabolites provide potential biomarkers for the personal identification of MZ twins in forensic medicine.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141300644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Weifeng Qu, Jinjie Liu, Lei Guo, Feng Wang, Zheng Gong, Yanan Liu, Yi Liu, Hongtao Jia, Haibo Rong, Mao Li, Penghua Wei, Dan Wen, Chudong Wang, Ruyi Xu, Xuan Tang, Siqi Chen, Xiaoyi Fu, Xue Li, Yue Wang, Yuepeng Wang, Tao Zhang, Yuguang Wang, Li Chen, Jienan Li, Ying Liu, Jifeng Cai, Bowei Jiang, Lagabaiyila Zha
{"title":"Validation of the PowerPlex<sup>®</sup>35GY System: a novel eight-dye STR multiplex kit on the Spectrum Compact CE System.","authors":"Weifeng Qu, Jinjie Liu, Lei Guo, Feng Wang, Zheng Gong, Yanan Liu, Yi Liu, Hongtao Jia, Haibo Rong, Mao Li, Penghua Wei, Dan Wen, Chudong Wang, Ruyi Xu, Xuan Tang, Siqi Chen, Xiaoyi Fu, Xue Li, Yue Wang, Yuepeng Wang, Tao Zhang, Yuguang Wang, Li Chen, Jienan Li, Ying Liu, Jifeng Cai, Bowei Jiang, Lagabaiyila Zha","doi":"10.1007/s00414-024-03308-x","DOIUrl":"10.1007/s00414-024-03308-x","url":null,"abstract":"<p><p>The PowerPlex<sup>®</sup> 35GY System (Promega, USA) is an advanced eight-dye multiplex STR kit, incorporating twenty-three autosomal STR loci, eleven Y chromosome STR loci, one sex determining marker Amelogenin, and two quality indicators. This multiplex system includes 20 CODIS loci and up to 15 mini-STR loci with sizing values less than 250 bases. In this study, validation for PowerPlex<sup>®</sup> 35GY System was conducted following the guidelines of SWGDAM, encompassing sensitivity, precision, accuracy, concordance, species specificity, stutter, mixture, stability, and degraded DNA. The results from experiments demonstrated that the PowerPlex<sup>®</sup> 35GY System could effectively amplify DNA samples, with complete allele detection achieved at 125 pg. Moreover, over 90% of alleles from minor contributors were detected at a mixed ratio of 1:4. Additionally, the system was found to yield full profiles even in the presence of hematin, humic acid, and indigo. The PowerPlex<sup>®</sup> 35GY System demonstrated superior performance in the sensitivity and degraded DNA studies compared to a six-dye STR kit. Hence, it is evident that the PowerPlex<sup>®</sup> 35GY System is well-suited for forensic practice, whether in casework or for database samples. These findings provide strong support for the efficacy and reliability of the PowerPlex<sup>®</sup> 35GY System in forensic applications.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141971057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
V Malokaj, Wernsing Mf, Kunz Sn, M Beer, Vogele Daniel
{"title":"Forensic age estimation by MRI of the knee - comparison of two classifications for ossification stages in a German population.","authors":"V Malokaj, Wernsing Mf, Kunz Sn, M Beer, Vogele Daniel","doi":"10.1007/s00414-024-03281-5","DOIUrl":"10.1007/s00414-024-03281-5","url":null,"abstract":"<p><strong>Aim and objectives: </strong>In forensic age estimation e.g. for judicial proceedings surpassed age thresholds can be legally relevant. To examine age related differences in skeletal development the recommendations by the Study Group on Forensic Age Diagnostics (AGFAD) are based on ionizing radiation (among others orthopantomograms, plain x-rays of the hand). Vieth et al. and Ottow et al. proposed MRI-classifications for the epiphyseal-diaphyseal fusion of the knee joint to define different age groups in healthy volunteers. The aim of the present study was to directly compare these two classifications in a large German patient population.</p><p><strong>Materials and methods: </strong>MRI of the knee joint of 900 patients (405 female, 495 male) from 10 to 28 years of age were retrospectively analyzed. Acquired T1-weighted turbo spin-echo sequence (TSE) and T2-weighted sequence with fat suppression by turbo inversion recovery magnitude (TIRM) were analyzed for the two classifications. The different bony fusion stages of the two classifications were determined and the corresponding chronological ages assigned. Differences between the sexes were analyzed. Intra- and inter-observer agreements were determined using Cohen's kappa.</p><p><strong>Results: </strong>With the classification of Ottow et al. it was possible to determine completion of the 18th and 21st year of life in both sexes. With the classification of Vieth et al. completion of the 18th year of life for female patients and the 14th and 21st year of life in both sexes could be determined. The intra- and inter-observer agreement levels were very good (κ > 0.82).</p><p><strong>Conclusion: </strong>In the large German patient cohort of this study it was possible to determine the 18th year of life with for both sexes with the classification of Ottow et al. and for female patients with the classification of Vieth et al. It was also possible to determine the 21st year of life for all bones with the classification of Ottow et al. and for the distal femur with the classification of Vieth et al.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490462/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141498032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Michal Kuchař, Anežka Pilmann Kotěrová, Alexander Morávek, Frédéric Santos, Katarína Harnádková, Petr Henyš, Eugénia Cunha, Jaroslav Brůžek
{"title":"Automatic variable extraction from 3D coxal bone models for sex estimation using the DSP2 method.","authors":"Michal Kuchař, Anežka Pilmann Kotěrová, Alexander Morávek, Frédéric Santos, Katarína Harnádková, Petr Henyš, Eugénia Cunha, Jaroslav Brůžek","doi":"10.1007/s00414-024-03301-4","DOIUrl":"10.1007/s00414-024-03301-4","url":null,"abstract":"<p><p>Thanks to technical progress and the availability of virtual data, sex estimation methods as part of a biological profile are undergoing an inevitable evolution. Further reductions in subjectivity, but potentially also in measurement errors, can be brought by approaches that automate the extraction of variables. Such automatization also significantly accelerates and facilitates the specialist's work. The aim of this study is (1) to apply a previously proposed algorithm (Kuchař et al. 2021) to automatically extract 10 variables used for the DSP2 sex estimation method, and (2) to test the robustness of the new automatic approach in a current heterogeneous population. For the first aim, we used a sample of 240 3D scans of pelvic bones from the same individuals, which were measured manually for the DSP database. For the second aim a sample of 108 pelvic bones from the New Mexico Decedent Image Database was used. The results showed high agreement between automatic and manual measurements with rTEM below 5% for all dimensions except two. The accuracy of final sex estimates based on all 10 variables was excellent (error rate 0.3%). However, we observed a higher number of undetermined individuals in the Portuguese sample (25% of males) and the New Mexican sample (36.5% of females). In conclusion, the procedure for automatic dimension extraction was successfully applied both to a different type of data and to a heterogeneous population.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490455/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141889157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Facial soft tissue depth of a contemporary adult Greek population.","authors":"Gülçin Coşkun, Marina Fasoula, Nikolaos Bontozoglou","doi":"10.1007/s00414-024-03305-0","DOIUrl":"10.1007/s00414-024-03305-0","url":null,"abstract":"<p><p>Facial approximation is a technique that involves constructing the facial muscles and applying a suitable facial soft tissue depth (FSTD) dataset. To date, several FSTD studies have been conducted for varying population groups. This study aims to establish a FSTD dataset of an adult Greek population sample for the first time. The facial depths of subjects were measured on 100 head CT scans of 50 male and 50 female subjects aged from 18 to 99. The 3D head and skull models of subjects were segmented in Amira 6.1 by using histogram method. FSTDs were measured at 22 cranial landmarks (5 mid-sagittal, 17 bilateral). The FSTD dataset was generated by considering the age and sex of subjects. The impact of age and sex on the FSTD was limited. Slight inter-population depth variations were reported. Facial asymmetry calculated between the bilateral landmarks was insignificant for both male and female subjects.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490456/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141912547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lei Shi, Ivan Galić, Sandra Anić-Milošević, Luka Banjšak, Hrvoje Brkić
{"title":"Accuracy of second and third molar maturity indices, Olze, Haavikko, and Demirjian methods for 14- and 16-year-old age thresholds assessment in Croatian children and adolescents.","authors":"Lei Shi, Ivan Galić, Sandra Anić-Milošević, Luka Banjšak, Hrvoje Brkić","doi":"10.1007/s00414-024-03278-0","DOIUrl":"10.1007/s00414-024-03278-0","url":null,"abstract":"<p><p>This study explores the reliability of four established legal age threshold estimation approaches in a Croatian sample. We applied Haavikko stages, Demirjian stages, Olze's third molar eruption stages, and second and third molar maturity indices measurement in 593 orthopantomograms of Croatian children and adolescents aged 11.00-20.99 years old. The left mandibular second and third molar were assessed. Logistic regression analysis was conducted to test the significance of predictive variables. Logistic Receiver operating characteristic (ROC) curves were performed to evaluate the classification ability of variables for estimating 14- and 16-year-old thresholds. The areas under the ROC curve (AUC), accuracy (Acc), sensitivity (Se), specificity (Sp), Positive Likelihood Ratio (LR +), Negative Likelihood Ratio (LR-), and Bayes post-test probability (Bayes PTP) were calculated to evaluate classification performance. Results suggest that the combination of I<sub>2M</sub>&I<sub>3M</sub> is the best classifier for the 14-year-old threshold (AUC = 0.879); for males alone, I<sub>2M</sub> is an even better classifier (AUC = 0.881). The highest Acc 80.1% (95%CI, 75.9%-83.9%), Bayes PTP 86.5% (95%CI, 82.8%-89.7%) and Sp 88.9% (95%CI, 83.0%-93.3%) were by I<sub>3M</sub> < 0.81 & I<sub>2M</sub> < 0.03 in total samples; the highest Acc 86.1% (80.6%- 90.6%), Bayes PTP 87.2% (95%CI, 81.7%- 91.4%) and Sp 87.8% (95%CI, 78.2%- 94.3%) were by I<sub>2M</sub> < 0.01 in males, Acc of Haavikko Ac and Demirjian H stage in second molar is very close with slightly lower Bayes PTP and Sp. I<sub>3M</sub> is a good classifier for 16-year-old threshold (AUC = 0.889). The cut-off value I<sub>3M</sub> < 0.34 can be used to classify the 16-year-old threshold with Acc of 80.6% (95%CI, 77.2%-83.7%), Sp of 83.4% (95%CI, 79.0%-87.3%), and 81.7% (95%CI, 78.4%-84.8%) Bayes PTP. In conclusion, to classify the 14-year-old threshold, a pair of cut-off values I<sub>3M</sub> < 0.81 & I<sub>2M</sub> < 0.03 can be used in Croatian females; I<sub>2M</sub> < 0.01, Demirjian H stage, Haavikko Ac stage in second molar, and the pair I<sub>3M</sub> < 0.81 & I<sub>2M</sub> < 0.03 can all be used in Croatian males. I<sub>3M</sub> < 0.34 can classify the 16-year-old threshold in Croatian populations.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141579636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Josephine Ploug Hansen, Sara Tangmose Larsen, Christina Jacobsen
{"title":"Diagnostic accuracy of post-mortem computed tomography for fractures of the hyoid-larynx complex.","authors":"Josephine Ploug Hansen, Sara Tangmose Larsen, Christina Jacobsen","doi":"10.1007/s00414-024-03293-1","DOIUrl":"10.1007/s00414-024-03293-1","url":null,"abstract":"<p><p>Post-mortem computed tomography (PMCT) is routinely used at many forensic institutions to guide the following autopsy and is especially useful for diagnosing fractures. This systematic review aims to investigate the sensitivity and specificity of a PMCT scan in fracture diagnosis of the hyoid-larynx complex (HLC) compared to traditional autopsy in cases involving traumatic neck injuries. We searched PubMed, SCOPUS and Web of Science and included papers with cases n ≥ 3 published between January 2000 and April 2023 reporting on PMCT and autopsy findings of fractures of the HLC. The search provided 259 results of which 10 were included. Overall sensitivity and specificity were 0.70 [0.59; 0.79] and 0.92 [0.80; 0.97] for hyoid bone fractures and 0.80 [0.62; 0.91] and 0.76 [0.63; 0.85] for the thyroid cartilage. The results show great variation, and a large range between studies. These results indicate that PMCT cannot replace autopsy in cases with HLC fractures. Future larger prospective studies are needed, examining fracture details, scan protocols and different slice thicknesses using uniform reporting.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141626654","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francesca Cazzato, Mònica Coll, Simone Grassi, Anna Fernàndez-Falgueras, Laia Nogué-Navarro, Anna Iglesias, Josep Castellà, Antonio Oliva, Ramon Brugada
{"title":"Investigating cardiac genetic background in sudden infant death syndrome (SIDS).","authors":"Francesca Cazzato, Mònica Coll, Simone Grassi, Anna Fernàndez-Falgueras, Laia Nogué-Navarro, Anna Iglesias, Josep Castellà, Antonio Oliva, Ramon Brugada","doi":"10.1007/s00414-024-03264-6","DOIUrl":"10.1007/s00414-024-03264-6","url":null,"abstract":"<p><p>Sudden infant death syndrome (SIDS) is still the leading cause of death for newborns in developed countries. The pathophysiological mechanisms have not been fully clarified, but in some of SIDS cases variants of genes associated with inherited cardiac conditions are found. In this study, an analysis of SCD-related genes was performed to determine the prevalence of rare pathogenic (P) or likely pathogenic (LP) variants that could provide an unambiguous explanation for the fatal event. A cohort of 76 SIDS cases underwent Next-Generation Sequencing (NGS) analysis with a custom panel of SCD-related genes. Rare variants were classified according to the guidelines provided by the American College of Medical Genetics and Genomics (ACMG) and the specifications of the ClinGen association. Post-mortem genetic testing identified 50 (65.8%) carriers of at least one variant in SCD genes. 104 rare genetic variants were found, 65.4% in genes encoding structural proteins. Only 4 out of 76 cases (5.3%) hosted at least a P or LP variant found in genes with structural or structural/arrhythmogenic functions (SLC22A5, SCN5A, MYL3and TTN). 99 variants were classified as of uncertain significance (VUS). The difference in the distribution of variants between gene groups by function was not statistically significant (chi square, p = 0,219). Despite this, most of the variants concerned structural genes that were supposed to have a close interaction with ion channels, thus providing an explanation for the arrhythmic event. Segregation analysis, reclassification of VUS variants and identification of new associated genes could clarify the implications of the current findings.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141288083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hui-Ming Zhou, Zhi-Lu Zhou, Yu-Heng He, Tai-Ang Liu, Lei Wan, Ya-Hui Wang
{"title":"Forensic bone age assessment of hand and wrist joint MRI images in Chinese han male adolescents based on deep convolutional neural networks.","authors":"Hui-Ming Zhou, Zhi-Lu Zhou, Yu-Heng He, Tai-Ang Liu, Lei Wan, Ya-Hui Wang","doi":"10.1007/s00414-024-03282-4","DOIUrl":"10.1007/s00414-024-03282-4","url":null,"abstract":"<p><p>In Chinese criminal law, the ages of 12, 14, 16, and 18 years old play a significant role in the determination of criminal responsibility. In this study, we developed an epiphyseal grading system based on magnetic resonance image (MRI) of the hand and wrist for the Chinese Han population and explored the feasibility of employing deep learning techniques for bone age assessment based on MRI of the hand and wrist. This study selected 282 Chinese Han Chinese males aged 6.0-21.0 years old. In the course of our study, we proposed a novel deep learning model for extracting and enhancing MRI hand and wrist bone features to enhance the prediction of target MRI hand and wrist bone age and achieve precise classification of the target MRI and regression of bone age. The evaluation metric for the classification model including precision, specificity, sensitivity, and accuracy, while the evaluation metrics chosen for the regression model are MAE. The epiphyseal grading was used as a supervised method, which effectively solved the problem of unbalanced sample distribution, and the two experts showed strong consistency in the epiphyseal plate grading process. In the classification results, the accuracy in distinguishing between adults and minors was 91.1%, and the lowest accuracy in the three minor classifications (12, 14, and 16 years of age) was 94.6%, 91.1% and 96.4%, respectively. The MAE of the regression results was 1.24 years. In conclusion, the deep learning model proposed enabled the age assessment of hand and wrist bones based on MRI.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141765996","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ji Chen, Anqi Chen, Ruiyang Tao, Ruxin Zhu, Han Zhang, Xuechun You, Chengtao Li, Suhua Zhang
{"title":"Solution to a case involving the interpretation of trace degraded DNA mixtures.","authors":"Ji Chen, Anqi Chen, Ruiyang Tao, Ruxin Zhu, Han Zhang, Xuechun You, Chengtao Li, Suhua Zhang","doi":"10.1007/s00414-024-03302-3","DOIUrl":"10.1007/s00414-024-03302-3","url":null,"abstract":"<p><p>DNA mixture analysis poses a significant challenge in forensic genetics, particularly when dealing with degraded and trace amount DNA samples. Multi-SNPs (MNPs) are genetic markers similar to microhaplotypes but with smaller molecular sizes (< 75 bp), making them theoretically more suitable for analyzing degraded and trace amount samples. In this case report, we investigated a cold case involving a campstool stored for over a decade, aiming to detect and locate the suspect's DNA. We employed both conventional capillary electrophoresis-based short tandem repeat (CE-STR) analysis and next-generation sequencing-based multi-SNP (NGS-MNP) analysis. The typing results and deconvolution of the mixed CE-STR profiles were inconclusive regarding the presence of the suspect's DNA in the mixed samples. However, through NGS-MNP analysis and presence probability calculations, we determined that the suspect's DNA was present in the samples from Sect. 4-1 with a probability of 1-8.41 × 10<sup>- 6</sup> (99.999159%). This evidence contradicted the suspect's statement and aided in resolving the case. Our findings demonstrate the significant potential of MNP analysis for examining degraded and trace amount DNA mixtures in forensic investigations.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11490424/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}