{"title":"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。","authors":"Marcel Obal, Tomaž Zupanc, Irena Zupanič Pajnič","doi":"10.1007/s00414-024-03368-z","DOIUrl":null,"url":null,"abstract":"<p><p>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<sup>®</sup> 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.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2000,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"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.\",\"authors\":\"Marcel Obal, Tomaž Zupanc, Irena Zupanič Pajnič\",\"doi\":\"10.1007/s00414-024-03368-z\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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<sup>®</sup> 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.</p>\",\"PeriodicalId\":14071,\"journal\":{\"name\":\"International Journal of Legal Medicine\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2024-11-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Legal Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s00414-024-03368-z\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, LEGAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Legal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s00414-024-03368-z","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, LEGAL","Score":null,"Total":0}
引用次数: 0
摘要
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。
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.
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.
期刊介绍:
The International Journal of Legal Medicine aims to improve the scientific resources used in the elucidation of crime and related forensic applications at a high level of evidential proof. The journal offers review articles tracing development in specific areas, with up-to-date analysis; original articles discussing significant recent research results; case reports describing interesting and exceptional examples; population data; letters to the editors; and technical notes, which appear in a section originally created for rapid publication of data in the dynamic field of DNA analysis.