在实际操作中进行 DNA 混合物对混合物比较的价值。

IF 3.2 2区 医学 Q2 GENETICS & HEREDITY
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引用次数: 0

摘要

自 1995 年以来,国家法医 DNA 数据库采用了贡献者数量上限和定位点数量下限,以降低提供错误线索的风险。不符合这些标准的生物痕迹 DNA 图谱无法载入这些数据库。2023年,在瑞士西部分析的15000多份痕迹DNA图谱中,约有10%没有在全国范围内进行比较,尽管这些图谱被认为是可以解释的,主要原因是这些图谱包含了两个以上人的DNA。在这种情况下,警察部门可以要求在当地与已知人员的DNA图谱和/或与其他痕迹进行比较,但这种情况只发生在一小部分案件中,因此DNA混合物很少被用来帮助侦查潜在的系列案件。概率基因分型软件及其相关工具的开发,使这种基于似然比(LR)而非共享等位基因数量的比对成为可能。为了突出潜在的共同成因,以利于调查和情报工作,本研究使用 STRmix v2.7 软件的混合物对混合物工具,对瑞士 DNA 数据库中无法搜索到的 235 份 DNA 图谱进行了比较。这些DNA图谱来自六个不同的警察部门在2021年和2022年收集的蛛丝马迹。警方选择这些痕迹的依据是,这些痕迹来自潜在的系列案件。为了确定这种方法的价值,我们将图谱之间的关联与预期的调查关联进行了比较。在 27495 对 DNA 图谱的配对比较中,88 对(0.3%)在使用 LR 临界值 1000 时显示出至少一个潜在的共同促成因素。在这 88 对中,60 对(68.2%)被警方认定为 "预期"(60/88),22 对(25.0%)为 "可能",6 对(6.8%)为 "意外"。虽然必须考虑这种方法的局限性(如偶然或遗漏的关联、成本/效益评估、DNA 混合物比较过程的整合),但这些研究结果表明,非 CODIS 可加载 DNA 混合物可为警察机构提供有关地方和国家层面潜在系列的信息。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Value of DNA mixture-to-mixture comparisons within an operational context

Since 1995, national forensic DNA databases have used a maximum number of contributors, and a minimum number of loci to reduce the risk of providing false leads. DNA profiles of biological traces that do not meet these criteria cannot be loaded into these databases. In 2023, about 10 % of more than 15,000 trace DNA profiles analyzed in western Switzerland were not compared at the national level, even though they were considered to be interpretable, mainly because they contained the DNA from more than two persons. In this situation, police services can request local comparisons with DNA profiles of known persons and/or with other traces, but this occurs in only a small proportion of cases, so that DNA mixtures are rarely used to help detect potential series. The development of probabilistic genotyping software and its associated tools have made possible the efficient performance of this type of comparison, which is based on likelihood ratios (LR) rather than on the number of shared alleles.

To highlight potential common contributors for investigation and intelligence purposes, the present study used the mixture-to-mixture tool of the software STRmix v2.7 to compare 235 DNA profiles that cannot be searched the Swiss DNA database. These DNA profiles originated from traces collected by six different police services in 2021 and 2022. Traces were selected by the police based on information that indicated that they were from potential series. Associations between profiles were compared with expected investigative associations to define the value of this approach. Among the 27,495 pairwise comparisons of DNA profiles, 88 pairs (0.3 %) showed at least one potential common contributor when using a LR threshold of 1000. Of these 88 pairs, 60 (68.2 %) were qualified by the police services as “expected” (60/88), 22 (25.0 %) as “possible”, and six (6.8 %) as “unexpected”. Although it is important to consider the limits of this approach (e.g., adventitious or missed associations, cost/benefit evaluation, integration of DNA mixture comparison in the process), these findings indicate that non CODIS loadable DNA mixtures could provide police agencies with information concerning potential series at both the local and national level.

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来源期刊
CiteScore
7.50
自引率
32.30%
发文量
132
审稿时长
11.3 weeks
期刊介绍: Forensic Science International: Genetics is the premier journal in the field of Forensic Genetics. This branch of Forensic Science can be defined as the application of genetics to human and non-human material (in the sense of a science with the purpose of studying inherited characteristics for the analysis of inter- and intra-specific variations in populations) for the resolution of legal conflicts. The scope of the journal includes: Forensic applications of human polymorphism. Testing of paternity and other family relationships, immigration cases, typing of biological stains and tissues from criminal casework, identification of human remains by DNA testing methodologies. Description of human polymorphisms of forensic interest, with special interest in DNA polymorphisms. Autosomal DNA polymorphisms, mini- and microsatellites (or short tandem repeats, STRs), single nucleotide polymorphisms (SNPs), X and Y chromosome polymorphisms, mtDNA polymorphisms, and any other type of DNA variation with potential forensic applications. Non-human DNA polymorphisms for crime scene investigation. Population genetics of human polymorphisms of forensic interest. Population data, especially from DNA polymorphisms of interest for the solution of forensic problems. DNA typing methodologies and strategies. Biostatistical methods in forensic genetics. Evaluation of DNA evidence in forensic problems (such as paternity or immigration cases, criminal casework, identification), classical and new statistical approaches. Standards in forensic genetics. Recommendations of regulatory bodies concerning methods, markers, interpretation or strategies or proposals for procedural or technical standards. Quality control. Quality control and quality assurance strategies, proficiency testing for DNA typing methodologies. Criminal DNA databases. Technical, legal and statistical issues. General ethical and legal issues related to forensic genetics.
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