Determining the specificity of the 36-InDelplex panel among species

IF 1.2 4区医学 Q3 MEDICINE, LEGAL

Journal of forensic and legal medicine Pub Date : 2025-05-20 DOI:10.1016/j.jflm.2025.102890

Melis Isik , Faruk Asicioglu , Lora Koenhemsi , Gonul Filoglu

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引用次数: 0

Abstract

Insertion-deletion polymorphisms are insertions or deletions of nucleotide bases in the human genome. They have emerged as a promising alternative to Short Tandem Repeats and Single Nucleotide Polymorphisms. This study aimed to evaluate the human specificity of the newly developed 36-InDelplex panel that consists of 34 autosomal InDel loci, the sex marker Amelogenin (AMG-XY), and one InDel locus on the Y chromosome across various animal species.

DNA samples extracted from the leftover blood of 57 animals of a university veterinary hospital that were originally collected for diagnostic purposes, were analysed. DNA isolation was conducted using the E.Z.N.A.® Tissue DNA Kit. Amplification of the 36-InDelplex panel was performed, and Polymerase Chain Reaction products were analysed using the ABI PRISM® 3500 Genetic Analyzer and GeneMapper v.5.0 software. Data evaluation was performed using Microsoft® Excel.

Results revealed that the ID16 (rs16646) locus consistently generated peaks at 113.26 in all cat and dog samples, while the ID28 (rs2067147) locus produced a peak at 225.94 in one cow sample. These peaks, differing in size from those observed in human samples; indicate that the 36-InDelplex panel effectively discriminates animal DNA from human DNA. Additionally, peaks outside the expected loci ranges were detected in cow, sheep, goat, and dog samples, but no significant peaks were observed at other loci.

The findings demonstrate that the panel exhibits high specificity for human DNA with minimal cross-reactivity toward tested animal species, making it particularly valuable for forensic applications, especially given the frequent presence of animal biological materials at crime scenes. Although no positive results were observed in the tested species, further research with a broader range of species and larger sample sizes is essential to confirm these findings. A limitation of the study is the absence of primate samples, which could enhance the accuracy of specificity evaluation.

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确定物种间36-InDelplex面板的特异性

插入-缺失多态性是人类基因组中核苷酸碱基的插入或缺失。它们已成为短串联重复序列和单核苷酸多态性的有希望的替代方法。本研究旨在评估新开发的36-InDelplex面板的人类特异性，该面板由34个常染色体InDel位点，性别标记AMG-XY和Y染色体上的一个InDel位点组成，跨越各种动物物种。从一所大学兽医医院的57只动物的剩余血液中提取的DNA样本进行了分析，这些样本最初是为了诊断目的而收集的。采用E.Z.N.A.®组织DNA试剂盒进行DNA分离。36-InDelplex面板进行扩增，聚合酶链反应产物使用ABI PRISM®3500遗传分析仪和GeneMapper v.5.0软件进行分析。使用Microsoft®Excel进行数据评估。结果显示，在所有猫和狗样本中，ID16 （rs16646）位点一致产生113.26的峰值，而在一个牛样本中，ID28 （rs2067147）位点产生225.94的峰值。这些峰的大小与在人类样本中观察到的峰不同；表明36-InDelplex面板有效地区分了动物DNA和人类DNA。此外，在牛、绵羊、山羊和狗样本中检测到超出预期位点范围的峰，但在其他位点未观察到明显的峰。研究结果表明，该面板对人类DNA具有很高的特异性，对被测动物物种的交叉反应最小，使其在法医应用中特别有价值，特别是考虑到犯罪现场经常出现动物生物材料。虽然在测试物种中没有观察到阳性结果，但进一步研究更广泛的物种和更大的样本量是证实这些发现的必要条件。本研究的一个局限性是缺乏灵长类动物样本，这可以提高特异性评估的准确性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of forensic and legal medicine MEDICINE, LEGAL-

CiteScore

2.70

自引率

6.70%

发文量

106

审稿时长

57 days

期刊介绍： The Journal of Forensic and Legal Medicine publishes topical articles on aspects of forensic and legal medicine. Specifically the Journal supports research that explores the medical principles of care and forensic assessment of individuals, whether adult or child, in contact with the judicial system. It is a fully peer-review hybrid journal with a broad international perspective. The Journal accepts submissions of original research, review articles, and pertinent case studies, editorials, and commentaries in relevant areas of Forensic and Legal Medicine, Context of Practice, and Education and Training. The Journal adheres to strict publication ethical guidelines, and actively supports a culture of inclusive and representative publication.