Forensic Science International-Genetics最新文献

{"title":"Expression of concern “Population genetics of 17 Y-STR loci in Xibe ethnic minority from Liaoning Province, Northeast China” [Forensic Sci. Int. Genet. 16 (2015) 86–87]","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103116"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128261","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}

{"title":"Expression of Concern: “Genetic profile of 17 Y chromosome STRs in the Guizhou Han population of southwestern China” [Forensic Sci. Int. Genet. 25 (2016) e6–e7]","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103120"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128265","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}

{"title":"Expression of concern: “Genetic polymorphisms of 17 Y chromosomal STRs in She and Manchu ethnic populations from China” [Forensic Sci. Int.: Genet. 22 (2016) e12–e14]","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103114"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143151052","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}

{"title":"Expression of Concern: “Genetic population data of Yfiler Plus kit from 1434 unrelated Hans in Henan Province (Central China)” [Forensic Sci. Int. Genet. 22 (2016) e25–e27]","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103121"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128266","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}

{"title":"Expression of concern “Population data of 17 Y-STR haplotypes in Jining Han population from Shandong province, East China” [Forensic Sci. Int. Genet. 19 (2015) 47–49]","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103117"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128262","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}

{"title":"Expression of Concern “Population genetics of 17 Y-STR loci in a large Chinese Han population from Zhejiang Province, Eastern China” [Forensic Sci. Int. Genet. 5 (2011) e11-e13]","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103118"},"PeriodicalIF":3.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143128264","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}

{"title":"Heating up three cold cases in Norway using investigative genetic genealogy","authors":"Håvard Aanes ,&nbsp;Magnus D. Vigeland ,&nbsp;Bastiaan Star ,&nbsp;Gregor D. Gilfillan ,&nbsp;Morten Mattingsdal ,&nbsp;Simon Trøan ,&nbsp;Monica Strand ,&nbsp;Leif Morten Eide ,&nbsp;Eirik Natås Hanssen","doi":"10.1016/j.fsigen.2024.103217","DOIUrl":"10.1016/j.fsigen.2024.103217","url":null,"abstract":"<div><div>With the advent of commercial DNA databases, investigative genetic genealogy (IGG) has emerged as a powerful forensic tool, rivalling the impact of STR analyses, introduced four decades ago. IGG has been frequently applied in the US and tested in other countries, but never in Norway. Here, we apply IGG to three cold criminal cases and successfully identify the donor of the DNA in two of these cases. Our findings suggest that when combined with phenotypic prediction and case information, IGG holds substantial potential for resolving both active and cold cases in Norway. This potential is amplified by the digitalization of archives and the transparent and structured nature of society in Norway. Additionally, the databases exhibit sufficient representation to yield matches with distant relatives. Moreover, this work has uncovered a series of lingering research questions spanning the entire workflow from DNA extraction to genealogy research. Finally, we highlight the possibility that more insights can be gleaned from genetic profiles, for instance using an accurate age prediction method. The results show that IGG can be successfully applied in Norway, having reached a level of maturity that enables identification of unknown individuals in cases where DNA is accessible.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103217"},"PeriodicalIF":3.2,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142960752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interest and limits of using pharmacogenetics in MDMA-related fatalities: A case report","authors":"G. Drevin ,&nbsp;O. Hahn ,&nbsp;N. Picard ,&nbsp;A. Baudriller ,&nbsp;L. Renard ,&nbsp;S. Malbranque ,&nbsp;N. Jousset ,&nbsp;M. Briet ,&nbsp;C. Abbara","doi":"10.1016/j.fsigen.2024.103219","DOIUrl":"10.1016/j.fsigen.2024.103219","url":null,"abstract":"<div><div>Interpreting postmortem concentrations of 3,4-Methylenedioxymethamphetamine (MDMA) remains challenging due to the wide range of reported results and the potential idiosyncratic nature of MDMA toxicity. Consequently, forensic pathologists often rely on a body of evidence to establish conclusions regarding the cause and the manner of death in death involving MDMA. Given these issues, implementing pharmacogenetics’ (PGx)’ testing may be beneficial. Here, this report discusses an MDMA-related fatality and explores the benefits and limitations of implementing pharmacogenetics (PGx) analysis in such cases. A 34-year-old white European male was found dead at home, lying naked on his bed in a state of marked rigor mortis. MDMA and methylenedioxyamphetamine were quantified using liquid chromatography coupled to tandem mass spectrometry at respectively 3800 and 170 µg/L in femoral blood. PGx analysis was performed on a peripheral blood sample collected in EDTA tube. Deep analysis of cytochrome P450 (CYP) <em>2D6</em>, <em>1A2</em>, <em>2B6</em>, <em>2C19</em>, <em>3A4</em> and catechol-O-methyltransferase (<em>COMT</em>) genes (including copy number variations analysis) was performed by Next Generation Sequencing (NGS) on an Illumina MiSeq® sequencer using the <em>Pharmacogenomics community panel</em> (SOPHIA genetics® x RNPGx). The data obtained was analyzed using Sophia DDM® software. PGx analysis revealed three variants in <em>CYP2C19</em> (rs75087398, rs12248560 and rs11188072) resulting in a <em>CYP2C19 * 1/* 17</em> genotype, predictive of a rapid metabolism phenotype, implying greater MDMA elimination. Additionally, two variants were found in the <em>COMT</em> gene (rs4633TT, rs4680AA). In the literature, carriers of rs4680AA or rs4680GA genotypes exhibit lower enzyme activity compared to those homozygous for the G allele. Low COMT activity level has been associated with increased MDMA cardiovascular effects and biological changes, including an increased risk of hyponatremia which is particularly relevant here regarding the potential mechanism of death. Despite these findings, there are currently too few available studies to draw any definitive conclusions, indicating a need for further research in this area to fully understand all the implications. Moreover, focusing solely on metabolic enzymes may not fully explain all the variability in MDMA toxicity. A holistic genetic approach is necessary, incorporating both metabolic enzymes and pharmacological targets, including serotonin, dopamine, and norepinephrine transporters and receptors.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103219"},"PeriodicalIF":3.2,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA methylation-based age estimation from semen: Genome-wide marker identification and model development","authors":"Ya Li ,&nbsp;Xiaozhao Liu ,&nbsp;Maomin Chen ,&nbsp;Shaohua Yi ,&nbsp;Ximiao He ,&nbsp;Chao Xiao ,&nbsp;Daixin Huang","doi":"10.1016/j.fsigen.2024.103215","DOIUrl":"10.1016/j.fsigen.2024.103215","url":null,"abstract":"<div><div>DNA methylation at age-related CpG (AR-CpG) sites holds significant promise for forensic age estimation. However, somatic models perform poorly in semen due to unique methylation dynamics during spermatogenesis, and current studies are constrained by the limited coverage of methylation microarrays. This study aimed to identify novel semen-specific AR-CpG sites using double-enzyme reduced representation bisulfite sequencing (dRRBS) and validate these markers, alongside previously reported sites and neighboring CpGs, using bisulfite amplicon sequencing (BSAS) to develop robust age estimation models. A methylome-wide association study was conducted on semen samples from 21 healthy Chinese men across three age groups, generating over 4 million CpG sites per sample at ≥ 5 × depth. Analysis of 721,840 shared CpG sites revealed that more than 95 % were not covered by conventional methylation microarrays. Differential methylation and correlation analyses identified 139 AR-CpG sites. A two-stage validation process using multiplex PCR-based BSAS was performed. In the first stage, 47 top dRRBS-identified AR-CpG sites, 26 literature-reported sites, and 242 neighboring CpGs were assessed in 129 semen samples (22–64 years), validating 31 dRRBS, 26 literature-reported, and 152 neighboring CpGs as age-related. The second stage examined 154 CpG sites in 247 samples (22–67 years), confirming 71 AR-CpG sites with |rho| &gt; 0.50. Among these, chr2:129071885 (cg19998819) emerged as the strongest age-associated marker (rho = 0.81). Using the second BSAS dataset, age estimation models were developed with multiple linear regression and random forest (RF) algorithms within a repeated nested cross-validation (CV) framework (10-fold outer CV with 10-fold inner CV, repeated 10 times). The RF models demonstrated superior accuracy across feature subsets of 5–25 CpGs. The optimized 9-CpG RF model achieved an average root mean square error of 4.73 years (4.62–4.96, SD=0.10) and an average mean absolute error of 3.30 years (3.23–3.43, SD=0.06). This study demonstrates the utility of dRRBS for large-scale AR-CpG discovery and provides a robust age estimation model and a comprehensive reference database of semen-specific AR-CpG sites for forensic applications.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103215"},"PeriodicalIF":3.2,"publicationDate":"2024-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928889","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}

{"title":"Tramadol-related fatalities: Metabolic ratios & SNPs/INDELs belonging to UGT1A8, UGT2B7, ABCC2, and SLC22A1","authors":"Sanaa M. Aly ,&nbsp;Naoual Sabaouni ,&nbsp;Benjamin Hennart ,&nbsp;Jean-michel Gaulier ,&nbsp;Delphine Allorge","doi":"10.1016/j.fsigen.2024.103218","DOIUrl":"10.1016/j.fsigen.2024.103218","url":null,"abstract":"<div><div>Genetic polymorphism can cause variation in tramadol (TR) pharmacokinetic characteristics and the expected clinical response. In forensic toxicology, the data about parent and metabolite concentrations (MRs; metabolic ratios) could facilitate to determine the cause of death and to assess time between drug intake and death. In this study, the aim was to investigate if <em>UGT1A8, UGT2B7, ABCC2, and SLC22A1</em> genotyping can facilitate interpretation by investigating the frequency of <em>UGT1A8, UGT2B7, ABCC2, and SLC22A1</em> genotypes in forensic autopsy cases positive for TR and to assess whether there is a correlation between these genetic variants and MRs. Cases positive for TR (n = 48) were genotyped by HaloPlex Target Enrichment system for <em>UGT1A8, UGT2B7, ABCC2, and SLC22A1</em> sequencing, in order to identify single nucleotide polymorphisms (SNPs) and/or insertion deletion (INDELs). In addition to, the concentrations of TR and its metabolites (M1 &amp; M2) were determined by LC-MS/MS. Cases were categorized by cause of death. The investigated SNPs/INDELs were not overrepresented in any group. We found significant correlations between several loci (12 out of 73) in <em>UGT1A8, ABCC2,</em> and <em>SLC22A1</em> genes and MRs (M2/M1, TR/M2, and TR/M1) in <em>post-mortem</em> TR cases. These results indicate these polymorphisms in the 4 investigated genes might influence TR pharmacokinetics leading to an unsatisfactory therapeutic effect or increasing the risk of toxicity. However, these findings should be supported in future studies with larger groups of cases.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103218"},"PeriodicalIF":3.2,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928854","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}