Forensic Science International: Genetics Supplement Series最新文献

{"title":"The paternal heritage of self-declared Ecuadorian indigenous people","authors":"Masinda Nguidi ,&nbsp;Rodrigo Flores ,&nbsp;Julyana Ribeiro ,&nbsp;Alejandra Garzón ,&nbsp;Manuel Calvopiña ,&nbsp;Sonia Zapata ,&nbsp;Alejandro Cabrera ,&nbsp;Ignacio Yepez ,&nbsp;Verónica Gomes ,&nbsp;Leonor Gusmão ,&nbsp;Germán Burgos","doi":"10.1016/j.fsigss.2022.10.033","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.10.033","url":null,"abstract":"<div><p>The present study aimed to characterize the paternal genetic composition of the Ecuadorian indigenous population. To investigate a possible matting bias, AIM-InDels were also analyzed. The population sample of 54 self-declared Ecuadorian indigenous presented a high haplotype diversity. A major proportion of the male lineages belong to Native American haplogroups. Although from self-declared indigenous, the studied population sample presented a low genetic distance with a sample of admixed individuals from Ecuador.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 196-198"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1875176822000701/pdfft?md5=6b783b6491b46e6487544ece0d24ea1f&pid=1-s2.0-S1875176822000701-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Towards localizing head shots – Forensic sub-differentiation of anatomical brain regions by differential RNA expression","authors":"Jan Euteneuer ,&nbsp;Lucas Moitinho-Silva ,&nbsp;Cornelius Courts","doi":"10.1016/j.fsigss.2022.10.027","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.10.027","url":null,"abstract":"<div><p>The detection of organ tissues, including brain, in even challenged forensic sample material by forensic RNA analysis has become a valid and routinely used method of trace contextualization. However, in cases of severe head traumas dealt by blunt impacts or firearm projectiles, for example in situations when multiple offenders handled different weapons, it can be beneficial for criminal investigations to determine by analysis of traces of biological material which area of the head had been hit (and by whom) by proxy of detecting which part of the brain had been injured. A whole transcriptome analysis employing massive parallel RNA Sequencing of four different anatomical areas of the cerebral cortex (frontal, temporal, parietal, occipital) was performed on a training set of autopsy samples from brain tissue. Applying different bioinformatic classification algorithms brain area specific mRNA candidates were selected and suitable markers were then validated on an independent test set of autopsy brain samples using quantitative RT-PCR. Here we found, that the differences in mRNA transcription of these two markers between the four brain regions were too small and less pronounced to be useful for and applicable in forensic RNA analysis. Hence, we conclude, that sub-differentiation of these brain regions via RNA expression analysis is out of forensic scope.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 178-180"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1875176822000750/pdfft?md5=699f4100357ded8ef161601989ea9557&pid=1-s2.0-S1875176822000750-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876651","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pitfalls, challenges and caveats in whole mitochondrial genome sequencing from hair shafts by MPS: Where, when and how to address them","authors":"Chiara Turchi ,&nbsp;Filomena Melchionda ,&nbsp;Federica Alessandrini ,&nbsp;Valerio Onofri ,&nbsp;Mauro Pesaresi ,&nbsp;Loredana Buscemi ,&nbsp;Adriano Tagliabracci","doi":"10.1016/j.fsigss.2022.10.041","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.10.041","url":null,"abstract":"<div><p>The growing use of massively parallel sequencing (MPS) for the whole mitochondrial genome analysis in forensic laboratories, requires the establishment of efficient workflows and interpretation procedures, to support the feasibility of the technology and the reliability of the data. In the case of reference samples, such as blood and buccal swabs, the generation of mtDNA profiles by using MPS is relatively simple. Conversely, many forensic casework samples still pose challenges for the MPS, data interpretation and reporting of mtDNA. This is especially true for the analysis of shed hairs, which are one of the most common evidence types and which are among the most limited in terms of DNA quantity and quality. Due to these limitations, every step involved in the analysis become essentials and should be performed in order to obtain the best performance, optimizing the outcomes and minimizing the errors.</p><p>In light of this, we present a study focusing on the extraction, quantification and MPS of the whole mtDNA in hair shafts, with the aims of set-up and validate a methodological pipeline to obtain the best sequencing results. The overall performance of the MPS panel, mainly in terms of total coverage, amplicons coverage and different primer pools efficiency, was evaluated also in relation to the different hair fragments, the mtDNA copy number used for libraries preparation and its degradation state.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 219-221"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1875176822000841/pdfft?md5=b0933c6942b9b18bc601604f22babdff&pid=1-s2.0-S1875176822000841-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA profiles from biological trace material contained in underwear and toothbrushes","authors":"Abdiel Gibran Torres-Pérez ,&nbsp;Mauro López-Armenta ,&nbsp;Alexa Villavicencio-Queijeiro","doi":"10.1016/j.fsigss.2022.10.045","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.10.045","url":null,"abstract":"<div><p>There are special cases where it is extremely difficult to find a close relative for obtaining reference samples, such as in adoption cases or foreigners without relatives in the country. In these cases, it is possible to use personal objects from the missing person. We developed a protocol for obtaining DNA profiles from toothbrushes and underwear and evaluated two DNA extraction methods (Silica and magnetic particles), comparing the DNA quantity and the quality of the obtained profiles. Results showed that for underwear, silica in suspension recovered higher DNA quantity but magnetic particles (PrepFiler®) generated more complete profiles. For toothbrushes PrepFiler® recovered a higher DNA quantity and generated more complete DNA profiles. Statistical analyses showed there were no significant differences between both methods. Higher DNA quantities were recovered from underwear samples, however toothbrushes generated higher quality in DNA profiles, without obtaining mixed profiles, concluding that toothbrushes are a better item than underwear. Considering that silica in suspension method is three-times cheaper than PrepFiler®, we propose it is possible to successfully obtain DNA profiles from personal objects using a low-cost DNA extract method.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 232-233"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1875176822000804/pdfft?md5=5daac6609880af5983e1374e3aa230c2&pid=1-s2.0-S1875176822000804-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876298","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of ethnic origin asymmetries in uniparental lineages in Argentinian population","authors":"Florencia Gagliardi,&nbsp;Martín Iungman,&nbsp;Luciana Rabitti,&nbsp;Malena Canteros,&nbsp;Mariana Herrera Piñero,&nbsp;Nicolás Furman","doi":"10.1016/j.fsigss.2022.10.007","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.10.007","url":null,"abstract":"<div><p>With the aim to study Argentinian ethnic structure and its miscegenation, we analyzed the mitochondrial DNA (mtDNA) and Y-chromosome Short Tandem Repeats (Y-STR) of 1580 blood samples from male donors. Our results showed that the population has a greater presence of Native American lineages on the maternal side (68.73 %) regarding the paternal line (4.18 %), alongside a majority of Eurasian origins in the paternal line (92.47 %). From the independence analysis, a significant difference was observed when compared with that expected by random crossings. The results are in agreement with a model where the miscegenation of native women with European men prevails, which has been widely observed in Argentine’s migratory currents and population history.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 128-130"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S187517682200049X/pdfft?md5=fc419457456ccb0f181ecf24c6e2ad1e&pid=1-s2.0-S187517682200049X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Monte Carlo simulation and sensitivity cost benefit analysis for use of nylon 4N6FLOQSwabs®","authors":"Bruce Budowle ,&nbsp;Andrew Arnette ,&nbsp;Jianye Ge ,&nbsp;Antti Sajantila","doi":"10.1016/j.fsigss.2022.09.021","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.09.021","url":null,"abstract":"<div><p>Forensic genetic laboratories are challenged with implementing innovation even if the benefits to operational performance are well demonstrated often because of internal budget constraints. A prospective cost–benefit analysis (CBA) could support justification for an increased budget by effectively demonstrating in a system-based approach the relatively small cost of increasing a laboratory budget can substantially reduce costs to society (both qualitatively and monetarily). A Monte Carlo simulation and sensitivity CBA was performed using a more expensive swab (i.e., nylon 4N6FLOQSwabs®) compared with a less costly cotton swab. Ranges of input values and tangible and intangible benefits were considered. The outcome is that the relatively small increased cost of using a nylon swab pales compared with the potential tangible and intangible benefits to the overall system. This approach provides a sounder basis for requesting additional funds to support implementation of technologies and better approximates realistic situations while accommodating uncertainty of input values.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 56-58"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S187517682200021X/pdfft?md5=7c10c3aae641272cd3a6885819b5bde9&pid=1-s2.0-S187517682200021X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"How often have X- and autosomal-STRs mutations equivocal parental origin been assigned?","authors":"Sofia Antão-Sousa ,&nbsp;Eduardo Conde-Sousa ,&nbsp;Leonor Gusmão ,&nbsp;António Amorim ,&nbsp;Nádia Pinto","doi":"10.1016/j.fsigss.2022.09.035","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.09.035","url":null,"abstract":"<div><p>Short tandem repeat markers (STRs) are widely applied in population, evolutionary, and forensic genetics, due to extensive polymorphism in the number of repetitive motifs. The primary mutational mechanism leading to changes in the length of STRs is thought to be polymerase template slippage. Mutation rates in STRs and corresponding parental assignment are usually assessed through the number of Mendelian incompatibilities observed in one-generational, parent(s)-child, pedigrees, and paternal mutations have been assumed to be preponderant over maternal ones. Notwithstanding, diploid and haplodiploid modes of genetic transmission may not allow for the unequivocal assigning of the mutation to the correct parental origin (either paternal or maternal), especially when genotyping methodologies of fragment length determination are employed. In this work, the frequency under which a mutation might be assigned to the wrong parental origin or be interpreted as having an ambiguous origin is analyzed for both diploid and haplodiploid modes of genetic transmission. Genotypic configurations were generated with Python™ programming language, considering parents-child trios for autosomal transmission, and parents-daughter trios for the X chromosomal one. One single-, one two- or one three-step mutation was simulated in each familial constellation, and the resulting genotypic configuration was analyzed regarding the parental assignment of the mutation. When considering autosomal transmission, the meiosis suffering mutation was randomly selected. Contrarily, differential analyses were performed for paternal and maternal mutations for X-chromosomal transmission. In this work, we show that the biases in the rates between paternal and maternal mutations differ for autosomal and X-chromosomal modes of transmission. In the differential analysis performed for the X-chromosomal STRs, it is possible to ascertain that the maternal and paternal meioses are subject to different biases, the latter being better estimated than the first. This work shows that simulated data, along with reliable and properly communicated real one, may be crucial for the correct modeling of biological processes, such as the mutation in STRs.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 99-101"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1875176822000348/pdfft?md5=2c70015d85749a18d8121deefe8103ec&pid=1-s2.0-S1875176822000348-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Separation of sperm and epithelial cells based on fluorescence-activated cell sorting","authors":"Kristina Fokias ,&nbsp;Bram Bekaert","doi":"10.1016/j.fsigss.2022.10.048","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.10.048","url":null,"abstract":"<div><p>The detection and separation of spermatozoa is crucial in the forensic investigation of alleged sexual assault cases. Differential lysis and microscopy-based techniques are conventional methods for the isolation of spermatozoa, though are time-consuming and frequently fail with samples containing an unfavourable sperm/epithelial cell ratio. Successful separation by means of fluorescence-activated cell sorting (FACS) has previously been reported, yet little efforts have been dedicated towards the further improvement or routine implementation of this technique. With this ongoing research, a methodology is being developed to sort sperm from epithelial cells by combining the Sperm Hy-Liter™ staining kit and FACS. Sorted sperm cells are then subjected to a direct lysis and low volume PCR (LV-PCR) protocol. Preliminary results demonstrate the successful separation of both cell types at a sperm/epithelial cell ratio of up to 1:500. The direct lysis and LV-PCR protocol allows to produce full haploid profiles from single sperm cells and mostly full diploid profiles from 10 spermatozoa. These data suggest that the proposed methods are potentially viable for forensic casework, yet additional testing is required for validation purposes.</p></div>","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 239-241"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1875176822000920/pdfft?md5=45b848ed78508a2848ccaca97468886e&pid=1-s2.0-S1875176822000920-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Full title page","authors":"","doi":"10.1016/S1875-1768(22)00131-7","DOIUrl":"https://doi.org/10.1016/S1875-1768(22)00131-7","url":null,"abstract":"","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Page i"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1875176822001317/pdfft?md5=7079bdd909b6490783baeffb505ac711&pid=1-s2.0-S1875176822001317-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Proceedings of the 29th ISFG Congress","authors":"John M. Butler ,&nbsp;Toni M. Diegoli ,&nbsp;Heather E. McKiernan ,&nbsp;Christian G. Westring","doi":"10.1016/j.fsigss.2022.11.001","DOIUrl":"https://doi.org/10.1016/j.fsigss.2022.11.001","url":null,"abstract":"","PeriodicalId":56262,"journal":{"name":"Forensic Science International: Genetics Supplement Series","volume":"8 ","pages":"Pages 1-2"},"PeriodicalIF":0.0,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S187517682200124X/pdfft?md5=8bb4116de3ff0144807c69055df121d9&pid=1-s2.0-S187517682200124X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71876946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}