利用焦磷酸测序数据评估唾液和口腔拭子样本的DNA甲基化年龄预测模型

IF 1.4 4区 医学 Q3 MEDICINE, LEGAL
Alexandre Poussard, Jean-Yves Curci, C. Siatka, Francis Hermitte, Amaury Pussiau, Hélène Singla-Sanchez, Sylvain Hubac
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引用次数: 1

摘要

在法医遗传学中,个体的鉴定通常是通过将案件中获得的未知DNA档案与数据库或参考资料进行比较来进行的。当没有找到匹配时,调查人员需要新的工具来获得额外的线索。最新的技术进步使预测外部可见的特征成为可能。有了这个目标,通过DNA甲基化分析预测个体的年龄仍然是最后的挑战之一。预测模型必须考虑到该领域的特定限制,包括组织特异性和DNA可用性(即低DNA量或低质量DNA)。Jung和他的同事们最近利用单碱基扩展测序方法从血液、唾液和口腔细胞中制造出了模型。为了在我们自己的分析条件下评估这些模型,我们收集和分析了115名年龄在0到88岁之间的法国人的唾液和口腔细胞样本。在确定了最佳分析条件后,包括亚硫酸氢盐转化的DNA量(75 ng),两项研究中甲基化率的测量结果存在一些差异。尽管存在这些差异,但预测性能水平仍然非常相似,我们的研究显示,唾液、口腔拭子和多组织模型的平均绝对误差分别为3.5年、3.9年和3.2年,对最年长和最年轻的个体存在局限性。此外,我们建议使用误差分散和正确预测率分别为±5年和±10年的预测区间。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of DNA Methylation-Based Age-Prediction Models from Saliva and Buccal Swab Samples Using Pyrosequencing Data
In forensic genetics, the identification of an individual is often carried out by comparing unknown DNA profiles obtained in a case against databases or references. When no match is found, investigators need new tools in order to obtain additional leads. The latest technical advances now make it possible to predict externally visible characteristics. With this objective, predicting the age of an individual through DNA methylation analysis remains one of the last challenges. The prediction models have to account for the specific constraints of this field, including tissue specificity and DNA availability (i.e., low DNA amounts or low-quality DNA). Jung and colleagues have recently produced models from blood, saliva and buccal cells by using a single base extension sequencing method. With the goal of evaluating these models in our own analytical conditions, saliva and buccal cell samples from 115 French individuals between the ages of 0 and 88 years old were collected and analyzed. After having determined the optimal analysis conditions, including the DNA quantity for bisulfite conversion (75 ng), some differences were highlighted in the measured methylation rates between the two studies. Despite these discrepancies, the prediction performance levels remain very similar, our study showing mean absolute errors of 3.5 years, 3.9 years and 3.2 years, respectively, for the saliva, buccal swab and multitissue model, with limitations observed for the oldest and youngest individuals. Furthermore, we propose the use of a prediction interval with an error dispersion and correct prediction rate at ±5 years and ±10 years, respectively.
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来源期刊
Forensic Sciences Research
Forensic Sciences Research MEDICINE, LEGAL-
CiteScore
3.60
自引率
7.70%
发文量
158
审稿时长
26 weeks
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