分解人类样本中整个线粒体基因组的新一代测序质量分析。

IF 2.2 3区 医学 Q1 MEDICINE, LEGAL
Seung Eun Lee, Ga Eun Kim, Dong Yeon Lee, Hajin Kim, Moon-Young Kim
{"title":"分解人类样本中整个线粒体基因组的新一代测序质量分析。","authors":"Seung Eun Lee, Ga Eun Kim, Dong Yeon Lee, Hajin Kim, Moon-Young Kim","doi":"10.1007/s00414-024-03380-3","DOIUrl":null,"url":null,"abstract":"<p><p>Human body decomposition significantly damages DNA, particularly short tandem repeats used in DNA profiling. In degraded samples, mitochondrial DNA (mtDNA) is used for aiding identification, utilizing hard tissues such as bones as DNA sources. However, extracting DNA from these tissues is complex and time-consuming. This study explores soft tissues for mtDNA analysis employing a next-generation sequencing (NGS) panel. A total of 290 samples from 30 autopsy cases were analyzed using an NGS panel targeting the entire mitochondrial genome. Among them, 239 samples were from 25 decomposed bodies with total body scores (TBS) ranging from 3 to 24. Nine types of soft tissue, including heart, liver, kidney, lung, brain, pectoralis muscle, iliacus muscle, aorta, and uterus, were examined. Rib cartilage, a representative hard tissue, and blood samples served as reference materials. Over 90% of the mtDNA sequence was confirmed in 49.6% of decomposed samples, increasing to 78.7% in hypervariable regions. As much as 95-100% of the mtDNA sequence could be retrieved from several highly decomposed soft tissues, comparable to rib cartilage. Among soft tissues, the uterus and aorta showed the shortest regions of uncovered mtDNA, highlighting their potential in decomposed bodies. No significant correlation was found between mtDNA sequencing quality and TBS or the nuclear DNA degradation index. The NGS panel successfully obtained most mtDNA sequences from decomposed soft tissues, suggesting that decomposition does not preclude genetic testing. Employing uterine or aortic tissues as alternatives to hard tissues in forensic contexts could streamline procedures, saving both time and resources.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2000,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Analysis of the sequencing quality of next-generation sequencing for the entire mitochondrial genome in decomposed human samples.\",\"authors\":\"Seung Eun Lee, Ga Eun Kim, Dong Yeon Lee, Hajin Kim, Moon-Young Kim\",\"doi\":\"10.1007/s00414-024-03380-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Human body decomposition significantly damages DNA, particularly short tandem repeats used in DNA profiling. In degraded samples, mitochondrial DNA (mtDNA) is used for aiding identification, utilizing hard tissues such as bones as DNA sources. However, extracting DNA from these tissues is complex and time-consuming. This study explores soft tissues for mtDNA analysis employing a next-generation sequencing (NGS) panel. A total of 290 samples from 30 autopsy cases were analyzed using an NGS panel targeting the entire mitochondrial genome. Among them, 239 samples were from 25 decomposed bodies with total body scores (TBS) ranging from 3 to 24. Nine types of soft tissue, including heart, liver, kidney, lung, brain, pectoralis muscle, iliacus muscle, aorta, and uterus, were examined. Rib cartilage, a representative hard tissue, and blood samples served as reference materials. Over 90% of the mtDNA sequence was confirmed in 49.6% of decomposed samples, increasing to 78.7% in hypervariable regions. As much as 95-100% of the mtDNA sequence could be retrieved from several highly decomposed soft tissues, comparable to rib cartilage. Among soft tissues, the uterus and aorta showed the shortest regions of uncovered mtDNA, highlighting their potential in decomposed bodies. No significant correlation was found between mtDNA sequencing quality and TBS or the nuclear DNA degradation index. The NGS panel successfully obtained most mtDNA sequences from decomposed soft tissues, suggesting that decomposition does not preclude genetic testing. Employing uterine or aortic tissues as alternatives to hard tissues in forensic contexts could streamline procedures, saving both time and resources.</p>\",\"PeriodicalId\":14071,\"journal\":{\"name\":\"International Journal of Legal Medicine\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":2.2000,\"publicationDate\":\"2024-11-28\",\"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/s00414-024-03380-3\",\"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/s00414-024-03380-3","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

人体分解会严重破坏 DNA,尤其是用于 DNA 分析的短串联重复序列。在降解样本中,线粒体 DNA(mtDNA)可用于辅助鉴定,利用骨骼等硬组织作为 DNA 来源。然而,从这些组织中提取 DNA 既复杂又耗时。本研究利用下一代测序(NGS)面板对软组织进行 mtDNA 分析。研究人员使用针对整个线粒体基因组的 NGS 面板分析了来自 30 个尸检病例的 290 份样本。其中 239 个样本来自 25 具腐烂尸体,尸体总评分(TBS)从 3 到 24 分不等。研究人员对心脏、肝脏、肾脏、肺、脑、胸肌、髂肌、主动脉和子宫等九种软组织进行了检测。肋软骨、具有代表性的硬组织和血液样本作为参考材料。在 49.6% 的分解样本中,超过 90% 的 mtDNA 序列得到了确认,而在高变异区,这一比例则增加到 78.7%。在几种高度分解的软组织中,可检索到高达 95-100% 的 mtDNA 序列,与肋软骨相当。在软组织中,子宫和主动脉显示出最短的未发现 mtDNA 区域,突出了它们在腐尸中的潜力。在 mtDNA 测序质量与 TBS 或核 DNA 降解指数之间没有发现明显的相关性。NGS 小组成功地从腐烂的软组织中获得了大多数 mtDNA 序列,这表明腐烂并不妨碍基因检测。在法医鉴定中使用子宫或主动脉组织替代硬组织可简化程序,节省时间和资源。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Analysis of the sequencing quality of next-generation sequencing for the entire mitochondrial genome in decomposed human samples.

Human body decomposition significantly damages DNA, particularly short tandem repeats used in DNA profiling. In degraded samples, mitochondrial DNA (mtDNA) is used for aiding identification, utilizing hard tissues such as bones as DNA sources. However, extracting DNA from these tissues is complex and time-consuming. This study explores soft tissues for mtDNA analysis employing a next-generation sequencing (NGS) panel. A total of 290 samples from 30 autopsy cases were analyzed using an NGS panel targeting the entire mitochondrial genome. Among them, 239 samples were from 25 decomposed bodies with total body scores (TBS) ranging from 3 to 24. Nine types of soft tissue, including heart, liver, kidney, lung, brain, pectoralis muscle, iliacus muscle, aorta, and uterus, were examined. Rib cartilage, a representative hard tissue, and blood samples served as reference materials. Over 90% of the mtDNA sequence was confirmed in 49.6% of decomposed samples, increasing to 78.7% in hypervariable regions. As much as 95-100% of the mtDNA sequence could be retrieved from several highly decomposed soft tissues, comparable to rib cartilage. Among soft tissues, the uterus and aorta showed the shortest regions of uncovered mtDNA, highlighting their potential in decomposed bodies. No significant correlation was found between mtDNA sequencing quality and TBS or the nuclear DNA degradation index. The NGS panel successfully obtained most mtDNA sequences from decomposed soft tissues, suggesting that decomposition does not preclude genetic testing. Employing uterine or aortic tissues as alternatives to hard tissues in forensic contexts could streamline procedures, saving both time and resources.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
CiteScore
5.80
自引率
9.50%
发文量
165
审稿时长
1 months
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.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信