通过 DNA 甲基化分析估算烧焦人类遗骸的年龄

IF 2.2 3区 医学 Q1 MEDICINE, LEGAL
Pierangela Grignani, Barbara Bertoglio, Maria Cristina Monti, Riccardo Cuoghi Costantini, Ugo Ricci, Martina Onofri, Paolo Fattorini, Carlo Previderè
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引用次数: 0

摘要

鉴定火灾受害者是法医学中一项具有挑战性的任务。热引起的生物组织变化会使传统的人类学分析变得困难。即使找到了受害者的 DNA 图谱,也有可能在法医 DNA 数据库中找不到匹配的结果,从而阻碍了身份的确认。在这种情况下,应收集任何有助于确定可能身份的信息,如 DNA 甲基化分析,它可以提供有用的调查线索。本研究使用单碱基延伸(SBE)分析法,对 72 名已知年龄的意大利活人的血液样本中的五个与年龄相关的表观遗传标记(ELOVL2、FHL2、KLF14、C1orf132 和 TRIM59)进行了初步分析。通过包含所有标记物的多元线性回归建立了一个年龄预测模型(平均绝对误差:3.15 岁)。该模型在 29 具已通过 DNA 分析鉴定的烧焦遗骸验尸时采集的血液样本上进行了测试,其平均绝对误差为 6.92 岁。该模型对 79.3% 的病例进行了正确预测(预测区间为 95%),而对 6 个病例的预测不准确(最小-最大预测误差:9.8-37.3 年)。在解释这些结果的不同样本变量中,只有 DNA 降解指数是影响预测可靠性的相关因素。总之,对烧焦遗骸的血液进行 SBE 分型被证明是估计大多数样本年代的可靠工具,而且考虑到其成本效益和每个法医遗传学实验室都有 CE 测序仪。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Age estimation of burnt human remains through DNA methylation analysis

Age estimation of burnt human remains through DNA methylation analysis

The identification of human fire victims is a challenging task in forensic medicine. The heat-induced alterations of biological tissues can make the conventional anthropological analyses difficult. Even if the DNA profile of the victim is achieved, it is possible that no match can be found in a forensic DNA database, thus hindering positive identification. In such cases, any information useful to nail down a possible identity should be collected, such as DNA methylation analysis which could provide useful investigative leads. In the present study, five age-related epigenetic markers (ELOVL2, FHL2, KLF14, C1orf132, and TRIM59) were initially analysed in blood samples of 72 living Italian individuals of known age, using a Single Base Extension (SBE) assay. An age prediction model was built by multiple linear regression including all the markers (Mean Absolute Error, MAE: 3.15 years). This model was tested on 29 blood samples collected during autopsies from burnt human remains, already identified through DNA analysis, providing a MAE of 6.92 years. The model allowed a correct prediction in 79.3% of the cases (95% prediction interval), while six cases were associated with inaccurate predictions (min-max prediction error: 9.8–37.3 years). Among the different sample variables considered to explain these results, only the DNA degradation index was a relevant factor affecting the reliability of the predictions. In conclusion, the SBE typing of blood from burnt remains proved to be a reliable tool to estimate chronological age of most of the samples, also in consideration of its cost-effectiveness and the availability of CE sequencers in every forensic genetics laboratory.

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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.
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