Forensic Science International-Genetics最新文献

{"title":"Non-juvenile familial form of life-threatening arrhythmias caused by the Ryanodine Receptor type 2 c.13823 G>A, p.(Arg4608Gln) pathogenic variant: Atypical catecholaminergic polymorphic ventricular Tachycardia or misdiagnosis?","authors":"Sok-Sithikun Bun ,&nbsp;Fabien Squara ,&nbsp;Didier Scarlatti ,&nbsp;Céline Leccia ,&nbsp;Florence Kyndt ,&nbsp;Emile Ferrari ,&nbsp;Cécile Rouzier","doi":"10.1016/j.fsigen.2025.103238","DOIUrl":"10.1016/j.fsigen.2025.103238","url":null,"abstract":"<div><h3>Background</h3><div>Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited channelopathy, responsible for potentially lethal malignant arrhythmic episodes. Atypical non-juvenile form of CPVT may not mislead an alternative diagnosis of calcium release deficiency syndrome (CRDS).</div></div><div><h3>Case</h3><div>The index case was a 58 years-old woman who experienced aborted sudden cardiac arrest. The initial complete diagnostic workup (including norepinephrine challenge) was completely negative. She was implanted with an entirely subcutaneous defibrillator. During her follow-up, she received an appropriate electrical shock (ventricular fibrillation) despite β-blocker treatment. Three sisters (46, 40 and 18 years-old) as well as 2 cousins, one paternal uncle and one paternal aunt had sudden cardiac deaths (SCD) without etiology in the family history. There were no additional reports of pregnancy loss, neonatal death, seizures or SCD among the family members. The genetic analysis in this proband revealed a missense pathogenic variant c.13823 G&gt;A, p.(Arg4608Gln) in the <em>RYR2</em> gene, encoding the Ryanodine Receptor type 2. This c.13823 G&gt;A, p.(Arg4608Gln), variant in the <em>RYR2</em> gene was supposed to be a potential disease-causing variant in CPVT. Unfortunately, before the end of the proband's genetic analysis, her 20 years-old daughter experienced SCD, whilst being implanted with an insertable cardiac monitor. Familial segregation analysis confirmed the four symptomatic sisters harbor also the same variant confirming the pathogenic role of this variant. We also identified 7 carriers who were clinically negative for CPVT in the next generation. Whole were treated with Nadolol 80 mg per day, and the follow-up was uneventful after twenty-four months.</div></div><div><h3>Conclusion</h3><div>The Ryanodine Receptor type 2 c.13823 G&gt;A, p.(Arg4608Gln) pathogenic variant is described in a malignant familial form of CRDS.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103238"},"PeriodicalIF":3.2,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143422417","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":"Investigation into the genotyping performance of a unique molecular identifier based microhaplotypes MPS panel in complex DNA mixture","authors":"Qiang Zhu ,&nbsp;Haoyu Wang ,&nbsp;Yuhan Hu,&nbsp;Yifan Wei,&nbsp;Yuting Wang,&nbsp;Tingyun Hou,&nbsp;Tiantian Shan,&nbsp;Xiaokang Zhang,&nbsp;Chun Yang,&nbsp;Yuntao Cai,&nbsp;Yufang Wang,&nbsp;Ji Zhang","doi":"10.1016/j.fsigen.2025.103236","DOIUrl":"10.1016/j.fsigen.2025.103236","url":null,"abstract":"<div><div>In forensic science, genotyping mixed DNA is a critical and complex task. Sequencing errors and allele sharing complicate the analysis, particularly in cases involving unbalanced mixtures, multiple contributors, and kinship relationships. Massively parallel sequencing (MPS) panels comprising highly polymorphic microhaplotypes (MHs) offer a promising approach for detecting unique alleles in mixtures with a mixture ratio greater than 10:1, involving more than two contributors or contributors with kinship. However, sequencing errors such as base substitution and InDels on the MPS platform remain a significant challenge in genotyping complex mixed DNA. The barcoding approach has been introduced to MPS to distinguish true alleles from sequencing errors. This method employs unique molecular identifiers (UMIs) to tag individual DNA molecules, allowing for the identification and correction of random sequencing errors. By generating consensus sequences from read replicates associated with the same UMI, this approach enhances the accuracy of allele detection. In this study, UMIs were incorporated into developing a highly polymorphic panel consisting of 105 MHs, with an average effective number of alleles (Ae) of 6.9. Various types of mixed DNA samples were prepared, including unbalanced mixtures with ratios ranging from 1:1–160:1, multi-contributor mixtures with 2–6 contributors, and kinship-involved mixtures with parent-offspring to fourth-degree relatives contributors. Unique alleles were quantified, and mixture proportions (Mx) were calculated separately using sequencing reads and the number of UMI families with more than 10 members. The results demonstrated that UMI played a critical role in identifying sequencing errors and enhancing the accuracy of allele genotyping in unbalanced mixtures. A strong correlation (R² = 0.96) between UMI count and DNA template amount demonstrated that DNA template amount could be inferred from UMI count. Mx values derived from the number of UMIs were consistent across loci and showed a high correlation with mixture ratios (R² = 0.85). Additionally, the panel efficiently detected unique alleles across all three types of complex DNA mixtures. Overall, this study underscores the importance of UMIs in mitigating PCR and sequencing biases, thereby improving the performance of the MH-MPS panel for genotyping complex DNA mixtures. UMIs represent a valuable tool for mixed DNA genotyping and hold potential for boarder applications in probabilistic genotyping.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103236"},"PeriodicalIF":3.2,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143348322","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":"Massively parallel sequencing of a forensic combined panel of 107-plex STR loci and 292-plex SNP loci in the Han Chinese population","authors":"Weifen Sun ,&nbsp;Bonan Dong ,&nbsp;Xufeng Chu ,&nbsp;Qiannan Xu ,&nbsp;Hui Li ,&nbsp;Man Chen ,&nbsp;Lei Jiang ,&nbsp;Ao Huang ,&nbsp;Bofeng Zhu ,&nbsp;Xiling Liu","doi":"10.1016/j.fsigen.2025.103235","DOIUrl":"10.1016/j.fsigen.2025.103235","url":null,"abstract":"<div><div>Massively parallel sequencing (MPS), a well-established strategy for forensic DNA profiling, enables the simultaneous sequencing of multiple targeted loci of multiple samples at a single-base resolution with high coverage. In this study, we developed a novel typing system by combining solution-based hybrid capture methods with MPS to target as many as 107 short tandem repeats (STRs) and 292 single nucleotide polymorphisms (SNPs) in the Han Chinese population. Completely accurate and concordant STR genotypes were obtained when compared to typing results generated from conventional capillary electrophoresis analysis, with six loci exhibiting inferior performance due to allele dropout or even locus dropout. The locus detection success reached 85.2 % for STRs at a DNA input of 10 ng and 95.61 % for SNPs at a DNA input of 5 ng. Mixture studies substantiated the considerable potential of our system in identifying minor contributor alleles at both STR and SNP loci. Additionally, the system demonstrated full inferential abilities in distinguishing first-degree kinship from unrelated individual pairs and achieved significant effectiveness of 99.78 % and 80.2 % for the identification of second- and third-degree kinship, respectively. These findings indicated that our novel typing system is highly discriminative and informative when used in the Han Chinese population and would be highly efficient for use in paternity testing and complex kinship analysis.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103235"},"PeriodicalIF":3.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143331979","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":"Preparing for shotgun sequencing in forensic genetics – Evaluation of DNA extraction and library building methods","authors":"Marie-Louise Kampmann ,&nbsp;Claus Børsting ,&nbsp;Alberte Honoré Jepsen ,&nbsp;Mikkel Meyer Andersen ,&nbsp;Clara I.V. Aagreen ,&nbsp;Brando Poggiali ,&nbsp;Carina Grøntved Jønck ,&nbsp;Niels Morling ,&nbsp;Jeppe D. Andersen","doi":"10.1016/j.fsigen.2025.103234","DOIUrl":"10.1016/j.fsigen.2025.103234","url":null,"abstract":"<div><div>Shotgun sequencing can be a powerful tool in forensic genetics, enabling comprehensive genetic analyses of biological samples for human identification (HID), forensic DNA phenotyping, ancestry inference, and forensic investigative genetic genealogy (FIGG). This study evaluated the performance of shotgun sequencing of typical forensic reference samples (whole blood or punches from FTA cards) extracted with four commonly used DNA extraction methods. The four DNA extraction methods were paired with three different library building methods to determine the best combination of procedures and their impact on the quality and quantity of the sequencing reads. Shotgun sequencing was performed on an Illumina NovaSeq 6000 system. The data was analysed for coverage, total number of reads, mapped reads, median insert size, and presence of forensically relevant loci, including short tandem repeats (STRs), ancestry informative markers (AIMs), single nucleotide polymorphisms (SNPs) associated with pigmentary traits (HIrisPlex-S), SNPs on the Y chromosome, and SNPs used for FIGG. The highest quality of sequencing data was achieved using the combination of EZ1&amp;2 DNA Investigator Kit extractions and a double-stranded library building method, or the combination of Chelex® or PrepFiler Express™ Forensic DNA Extractions with a single-stranded library building protocol. The combination of EZ1&amp;2 DNA extraction and double-stranded library building yielded the largest number of genotypes. As many as 36 STRs, 162 AIMs, 41 HIrisPlex-S SNPs, 85,712 Y-SNPs, and 1.3 million FIGG SNPs were genotyped in one experiment. On the contrary, the combination of Chelex® or PrepFiler™ together with a double-stranded library building method generated relatively few genotypes and low-quality results. The single-stranded library building protocol could be applied to EZ1&amp;2 DNA Investigator Kit extractions of DNA on FTA cards but was inefficient and generated low-accuracy data when the sample material was whole blood. In conclusion, this study highlights the importance of combining the different forensic DNA extraction methods with appropriate shotgun sequencing library preparation approaches to optimise both the quantity and quality of forensically relevant DNA data.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103234"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143141326","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":"The IPEFA model: An initiative for online training and education as applied by the International Society for Forensic Genetics","authors":"Corina C.G. Benschop,&nbsp;Cíntia Alves,&nbsp;Leonor Gusmão","doi":"10.1016/j.fsigen.2024.103115","DOIUrl":"10.1016/j.fsigen.2024.103115","url":null,"abstract":"<div><div>The IPEFA model was developed for organizing online training and education events as applied by the International Society for Forensic Genetics (ISFG). It consists of five phases: 1) Input, 2) Preparation, 3) Execution, 4) Feedback, and 5) Assessment. This document details these phases and shows IPEFA’s first practical application to the 2023 edition of the virtual ISFG Summer School. Through sharing the experiences, we aim to provide transparency and engage with potential participants and teachers to (virtual) training and education events as organized by the ISFG. The model may also be useful for others organizing (online) events. We have experienced that evaluation of events with input and feedback from both the (potential) participants and teachers is essential for successful training and education. This takes time which is limited in everyone’s busy agenda’s and may therefore not always be performed with the care it requires. Since these aspects are crucial, however, we aim to keep following the principles as outlined in the IPEFA model.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"75 ","pages":"Article 103115"},"PeriodicalIF":3.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142010105","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":"Inter-platform evaluation of the MPSplex large-scale tri-allelic SNP panel for forensic identification","authors":"J. Ruiz-Ramírez ,&nbsp;F. Bittner ,&nbsp;T.J. Parsons ,&nbsp;A. Tillmar ,&nbsp;L. Vangeel ,&nbsp;I. Grandell ,&nbsp;M. Eduardoff ,&nbsp;M.A. Peck ,&nbsp;A. Ambroa-Conde ,&nbsp;A. Mosquera-Miguel ,&nbsp;A. Freire-Aradas ,&nbsp;M.V. Lareu ,&nbsp;C. Phillips ,&nbsp;M. de la Puente","doi":"10.1016/j.fsigen.2025.103233","DOIUrl":"10.1016/j.fsigen.2025.103233","url":null,"abstract":"<div><div>MPSplex is a large-scale forensic massively parallel sequencing (MPS) panel with 1,270 tri-allelic SNPs, 44 microhaplotypes (MH) and 55 ancestry-informative bi-allelic SNPs (aiSNPs) designed for missing persons identification. We have evaluated MPSplex with the most widely used MPS platforms in the forensic field: the Illumina MiSeq, the Thermo Fisher Scientific Ion S5 and the Qiagen GeneReader. The tri-allelic SNPs of MPSplex were previously identified from the most polymorphic loci with three common alleles in 1000 Genomes Phase III data and combined with the 44 MH and 55 aiSNPs, then implemented into a QIAseq Targeted DNA Custom Panel (Qiagen), a marker panel which uses Unique Molecular Indices or UMIs. The UMI random-sequence DNA molecules are incorporated onto DNA fragments before the Target Enrichment PCR, allowing the identification of reads that originated from the same template and consequently they can be used to correct the errors that may arise within the PCR or the sequencing process. In this study, we present the results of an inter-platform evaluation of the MPSplex panel, characterizing its performance in different forensic scenarios, which assessed aspects that include sensitivity, genotyping accuracy and mixture analysis. MPSplex aims to provide a tool designed for kinship analysis that can be applied beyond the resolution of first- or second-degree relationships, avoiding the need for much bigger forensic panels designed for genealogy purposes, which usually require significantly more sequencing resources. This study provides evaluation of MPSplex using the MPS systems in routine use for forensic genotyping of large-scale panels of SNPs.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"77 ","pages":"Article 103233"},"PeriodicalIF":3.2,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549848","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":"X-chromosomal STRs: Metapopulations and mutation rates","authors":"L. Gusmão ,&nbsp;S. Antão-Sousa ,&nbsp;M. Faustino ,&nbsp;M.A. Abovich ,&nbsp;D. Aguirre ,&nbsp;R. Alghafri ,&nbsp;C. Alves ,&nbsp;A. Amorim ,&nbsp;C. Arévalo ,&nbsp;L. Baldassarri ,&nbsp;C. Barletta-Carrillo ,&nbsp;G. Berardi ,&nbsp;C. Bobillo ,&nbsp;L. Borjas ,&nbsp;D.F. Braganholi ,&nbsp;A. Brehm ,&nbsp;J.J. Builes ,&nbsp;L. Cainé ,&nbsp;E.F. Carvalho ,&nbsp;M. Carvalho ,&nbsp;N. Pinto","doi":"10.1016/j.fsigen.2025.103232","DOIUrl":"10.1016/j.fsigen.2025.103232","url":null,"abstract":"<div><div>The analysis of STRs located on the X chromosome has been one of the strategies used to address complex kinship cases. Its usefulness is, however, limited by the low availability of population haplotype frequency data and lack of knowledge on the probability of mutations. Due to the large amount of data required to obtain reliable estimates, it is important to investigate the possibility of grouping data from populations with similar profiles when calculating these parameters. To better understand the partition of genetic diversity among human populations for the X-STRs most used in forensics, an analysis was carried out based on data available in the literature and new data (23,949 haplotypes in total; from these 10,445 new) obtained through collaborative exercises within the Spanish and Portuguese Working Group of the International Society for Forensic Genetics. Based on the available population data, a similarity in X-STR profiles was found in European populations, and in East Asian populations, except for some isolates. A greater complexity was found for African, South American, and South and Southeast Asian populations, preventing their grouping into large metapopulations. New segregation data on 2273 father/mother/daughter trios were also obtained, aiming for a more thorough analysis of X-STR mutation rates. After combining our data with published information on father/mother/daughter trios, no mutations were detected in 13 out of 37 loci analyzed. For the remaining loci, mutation rates varied between 2.68 × 10⁻⁴ (DXS7133) and 1.07x10⁻² (DXS10135), being 5.2 times higher in the male (4.16 ×10⁻³) than in the female (8.01 ×10⁻⁴) germline.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103232"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143082966","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":"Current progress and future perspectives in personal identification of monozygotic twins in forensic medicine","authors":"Ming-hui Liu ,&nbsp;Xi Xia ,&nbsp;Yi-long Wang ,&nbsp;Dan-yang Wang ,&nbsp;Si-wen Wang ,&nbsp;Yun-zhou Chen ,&nbsp;Mao-ling Sun ,&nbsp;Jia-xin Xing ,&nbsp;Jin-feng Xuan ,&nbsp;Jun Yao","doi":"10.1016/j.fsigen.2025.103231","DOIUrl":"10.1016/j.fsigen.2025.103231","url":null,"abstract":"<div><div>The personal identification of monozygotic (MZ) twins is of great importance in forensic medicine. Due to the extreme similarity in genetic between MZ twins, it is challenging to differentiate them using autosomal STR genotyping. Forensic experts are striving to explore available genetic markers that can differentiate between MZ twins. With the advent of next-generation sequence (NGS), an increasing number of genetic markers have been demonstrated to effectively differentiate between MZ twins. Here, we summarized for the relevant studies on MZ twins’ differentiation and discussed the limitations of the underlying markers. In details, single-nucleotide variants (SNVs), copy number variation (CNV), mitochondrial DNA (mtDNA), DNA methylation, and non-coding RNA have been demonstrated considerable value. Furthermore, the utilization of proteomics, metabolomics, and microbiomics has shed light on MZ twin differentiation. Additionally, we introduce the methodologies for MZ differentiation based on external morphological variations observed in the human body. Looking to the future, the process of aging may represent a novel avenue for the differentiation of MZ twins.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103231"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070272","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":"Ethical and security challenges in AI for forensic genetics: From bias to adversarial attacks","authors":"Franco Marsico ,&nbsp;Martin Amigo","doi":"10.1016/j.fsigen.2025.103225","DOIUrl":"10.1016/j.fsigen.2025.103225","url":null,"abstract":"<div><div>Forensic scientists play a crucial role in assigning probabilities to evidence based on competing hypotheses, which is fundamental in legal contexts where propositions are presented usually by prosecution and defense. The likelihood ratio (LR) is a well-established metric for quantifying the statistical weight of the evidence, facilitating the comparison of probabilities under these hypotheses. Developing accurate LR models is inherently complex, as it relies on cumulative scientific knowledge. Ensuring transparency and rigor in these models is essential for building trust and fostering broader adoption. This is especially true in forensic genetics, where LRs are widely applied. Recently, the integration of Artificial Intelligence (AI), especially deep learning and machine learning, has introduced novel methods for predicting physical traits, ancestry, and age. However, unlike traditional approaches, many of these AI-driven methods function as “black boxes”, raising concerns within the forensic community about potential biases, accountability, adversarial effects and other phenomena that could lead to erroneous outcomes. In this study, we use simulated scenarios as a proof-of-concept to illustrate two common applications of AI methods: (i) prediction of biogeographical ancestry and (ii) kinship inference. We critically examine cases where AI models can mislead forensic interpretation, which represents ethical and security challenges. We emphasize the need for rigorous evaluation and ethical oversight in the application of these methods.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103225"},"PeriodicalIF":3.2,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061774","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":"Profiling microRNA expression differentiates monozygotic twins in peripherical blood by droplet digital PCR","authors":"Dan-yang Wang ,&nbsp;Mei-hui Tian ,&nbsp;Yun-zhou Chen ,&nbsp;Si-wen Wang ,&nbsp;Xin-yu Xing ,&nbsp;Mao-ling Sun ,&nbsp;Zhenze Liu ,&nbsp;Yalin Liu ,&nbsp;Hongbo Wang ,&nbsp;Jiayi Wei ,&nbsp;Yang Zhong ,&nbsp;Jun Yao","doi":"10.1016/j.fsigen.2025.103230","DOIUrl":"10.1016/j.fsigen.2025.103230","url":null,"abstract":"<div><div>It is challenging to distinguish monozygotic (MZ) twins using traditional autosomal STR genotyping due to their nearly identical genomes. As an important kind of small non-coding RNAs, microRNAs (miRNAs) are essential regulators of gene expression and considered as excellent biomarkers due to their resistance to degradation. Moreover, droplet digital PCR (ddPCR) has emerged as a powerful technique for detecting gene mutations and pathogenic microorganisms, owing to its sensitivity and reliability. We aimed to explore the differential expression of miRNAs between MZ twins using next-sequence platform and assess the reliability of differentially expressed miRNAs by ddPCR. MiRNA sequencing (miRNA-seq) revealed nine differentially expressed miRNAs shared across five pairs of twins, including hsa-miR-3620-3p, hsa-miR-6825-5p, hsa-miR-1273h-5p, hsa-miR-200a-5p, hsa-miR-3192-5p, hsa-miR-188-5p, hsa-miR-206, hsa-miR-4796-5p, and hsa-miR-6775-3p. Subsequently, the combination of real-time quantitative PCR (qPCR) and ddPCR confirmed the ability of five of these miRNAs (hsa-miR-1273h-5p, hsa-miR-3192-5p, hsa-miR-188-5p, hsa-miR-206, and hsa-miR-6775-3p) in distinguishing monozygotic twins. Furthermore, ddPCR demonstrated superior recognition accuracy compared to qPCR. Finally, we evaluated the degradation resistance of these five miRNAs under different environmental conditions. None of the five miRNAs showed a significant decrease in expression levels after being stored at room temperature for up to 180 days or undergoing 10 freeze-thaw cycles. In summary, our study revealed the potential application of miRNAs in differentiation of MZ twins and the powerful role of ddPCR in forensic medicine.</div></div>","PeriodicalId":50435,"journal":{"name":"Forensic Science International-Genetics","volume":"76 ","pages":"Article 103230"},"PeriodicalIF":3.2,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070330","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}