Ran Li, Jingyi Yang, Nana Wang, Yu Zang, Jiajun Liu, Enlin Wu, Riga Wu, Hongyu Sun
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Results indicated that there were significant differences in RR<sub>mt/nu</sub> between different body fluids/tissues. Specifically, hair samples exhibited the highest RR<sub>mt/nu</sub> (log<sub>10</sub>RR<sub>mt/nu</sub>: 4.3 ± 0.28), while semen samples showed the lowest RR<sub>mt/nu</sub> (log<sub>10</sub>RR<sub>mt/nu</sub>: -0.1 ± 0.28). RR<sub>mt/nu</sub> values for DNA samples without extraction were notably higher (approximately 2.9 times) than those obtained after extraction. However, no significant difference in RR<sub>mt/nu</sub> was observed between various age and gender groups. Hierarchical clustering and Kmeans clustering analyses showed that body fluids/tissues of the same type clustered closely to each other and could be inferred with high accuracy. In conclusion, this study demonstrated that the simultaneous detection of nuclear and mitochondrial DNA made it possible to perform conventional DNA analyses and body fluid/tissue inference at the same time, thus killing two birds with one stone. 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引用次数: 0
摘要
体液和组织的推断对于重建犯罪现场和推断犯罪行为至关重要。然而,目前的方法与传统的 DNA 基因分型不兼容,而且额外的检测可能会导致法医现场材料的过度消耗。本研究旨在探讨通过线粒体 DNA 拷贝数(mtDNAcn)的差异来区分常见体液/组织的可行性。本研究分析了四种体液/组织--毛发、唾液、精液和骨骼肌。线粒体 DNA 的读数除以核 DNA 的读数(RRmt/nu),即可估算出 mtDNAcn。结果表明,不同体液/组织之间的 RRmt/nu 存在显著差异。具体来说,头发样本的 RRmt/nu 值最高(log10RRmt/nu:4.3 ± 0.28),而精液样本的 RRmt/nu 值最低(log10RRmt/nu:-0.1 ± 0.28)。未提取 DNA 样本的 RRmt/nu 值明显高于提取后的样本(约 2.9 倍)。不过,不同年龄和性别组之间的 RRmt/nu 没有明显差异。层次聚类和 Kmeans 聚类分析显示,同类体液/组织之间的聚类关系密切,推断的准确性很高。总之,这项研究表明,同时检测核DNA和线粒体DNA可使传统的DNA分析和体液/组织推断同时进行,一举两得。此外,mtDNAcn 有可能成为一种新型的、有前途的生物标记物,用于体液/组织的鉴定。
Inference of forensic body fluids/tissues based on mitochondrial DNA copy number: a preliminary study.
The inference of body fluids and tissues is critical in reconstructing crime scenes and inferring criminal behaviors. Nevertheless, present methods are incompatible with conventional DNA genotyping, and additional testing might result in excessive consumption of forensic scene materials. This study aims to investigate the feasibility of distinguishing common body fluids/tissues through the difference in mitochondrial DNA copy number (mtDNAcn). Four types of body fluids/tissues were analyzed in this study - hair, saliva, semen, and skeletal muscle. MtDNAcn was estimated by dividing the read counts of mitochondrial DNA to that of nuclear DNA (RRmt/nu). Results indicated that there were significant differences in RRmt/nu between different body fluids/tissues. Specifically, hair samples exhibited the highest RRmt/nu (log10RRmt/nu: 4.3 ± 0.28), while semen samples showed the lowest RRmt/nu (log10RRmt/nu: -0.1 ± 0.28). RRmt/nu values for DNA samples without extraction were notably higher (approximately 2.9 times) than those obtained after extraction. However, no significant difference in RRmt/nu was observed between various age and gender groups. Hierarchical clustering and Kmeans clustering analyses showed that body fluids/tissues of the same type clustered closely to each other and could be inferred with high accuracy. In conclusion, this study demonstrated that the simultaneous detection of nuclear and mitochondrial DNA made it possible to perform conventional DNA analyses and body fluid/tissue inference at the same time, thus killing two birds with one stone. Furthermore, mtDNAcn has the potential to serve as a novel and promising biomarker for the identification of body fluids/tissues.
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.