Evaluation of the usefulness of insertion-null markers in critical skeletal remains.

IF 2.2 3区 医学 Q1 MEDICINE, LEGAL International Journal of Legal Medicine Pub Date : 2024-07-01 Epub Date: 2024-03-20 DOI:10.1007/s00414-024-03205-3
Christian Haarkötter, María Saiz, Xiomara Gálvez, Diana C Vinueza-Espinosa, María Isabel Medina-Lozano, Juan Carlos Álvarez, Jose Antonio Lorente
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Abstract

Forensic DNA analysis in compromised skeletal remains may pose challenges due to DNA degradation, often resulting in partial or negative autosomal STRs profiles. To address this issue, alternative approaches such as mitochondrial DNA or SNPs typing may be employed; however, they are labour-intensive and costly. Insertion-null alleles (INNULs), short interspersed nuclear elements, have been suggested as a valuable tool for human identification in challenging samples due to their small amplicon size. A commercial kit including 20 INNULs markers along with amelogenin (InnoTyper® 21) has been developed. This study assesses its utility using degraded skeletal remains, comparing the results obtained (the number of detected alleles, RFU values, PHR, and the number of reportable markers) to those obtained using GlobalFiler™. Subsequently, the random match probability of the two profiles for each sample was determined using Familias version 3 to evaluate the power of discrimination of the results obtained from each kit. In every sample, InnoTyper® 21 yielded more alleles, higher RFU values, and a greater number of reportable loci. However, in most cases, both profiles were similarly informative. In conclusion, InnoTyper® 21 serves as a valuable complement to the analysis of challenging samples in cases where a poor or negative profile was obtained.

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评估插入无效标记在关键骨骼遗骸中的实用性。
由于 DNA 降解,对受损骸骨进行法医 DNA 分析可能会面临挑战,这往往会导致常染色体 STR 图谱部分或阴性。为解决这一问题,可采用线粒体 DNA 或 SNPs 分型等替代方法,但这些方法需要大量人力且成本高昂。插入缺失等位基因(INNULs)是一种短穿插核元素,由于其扩增片段较小,被认为是在具有挑战性的样本中进行人类鉴定的重要工具。目前已开发出一种商业试剂盒,其中包括 20 个 INNULs 标记和 amelogenin(InnoTyper® 21)。本研究使用退化的骸骨对其效用进行了评估,并将所获得的结果(检测到的等位基因数量、RFU 值、PHR 和可报告标记物的数量)与使用 GlobalFiler™ 所获得的结果进行了比较。随后,使用Familias版本3确定了每个样本的两个图谱的随机匹配概率,以评估每个试剂盒所得结果的鉴别力。在每个样本中,InnoTyper® 21 都能得到更多等位基因、更高的 RFU 值和更多的可报告位点。不过,在大多数情况下,两种试剂盒的信息量相似。总之,InnoTyper® 21 是对获得较差或阴性图谱的高难度样本分析的重要补充。
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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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