Dense single nucleotide polymorphism testing revolutionizes scope and degree of certainty for source attribution in forensic investigations.

IF 1.5 4区 医学 Q2 MEDICINE, GENERAL & INTERNAL Croatian Medical Journal Pub Date : 2024-06-13
Sammed N Mandape, Bruce Budowle, Kristen Mittelman, David Mittelman
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Abstract

The field of forensic DNA analysis has experienced significant advancements over the years, such as the advent of DNA fingerprinting, the introduction of the polymerase chain reaction for increased sensitivity, the shift to a primary genetic marker system based on short tandem repeats, and implementation of national DNA databases. Now, the forensics field is poised for another revolution with the advent of dense single nucleotide polymorphisms (SNPs) testing. SNP testing holds the potential to significantly enhance source attribution in forensic cases, particularly those involving low-quantity or low-quality samples. When coupled with genetic genealogy and kinship analysis, it can resolve countless active cases as well as cold cases and cases of unidentified human remains, which are hindered by the limitations of existing forensic capabilities that fail to generate viable investigative leads with DNA. The field of forensic genetic genealogy combined with genome-wide sequencing can associate relatives as distant as the seventh-degree and beyond. By leveraging volunteer-populated databases to locate near and distant relatives, genetic genealogy can effectively narrow the candidates linked to crime scene evidence or aid in determining the identity of human remains. With decreasing DNA sequencing costs and improving sensitivity of detection, forensic genetic genealogy is expanding its capabilities to generate investigative leads from a wide range of biological evidence.

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高密度单核苷酸多态性检测彻底改变了法医调查中来源归属的范围和确定程度。
多年来,法医 DNA 分析领域取得了重大进展,如 DNA 指纹鉴定的出现、为提高灵敏度而引入聚合酶链反应、转向基于短串联重复序列的主要遗传标记系统,以及国家 DNA 数据库的实施。现在,随着高密度单核苷酸多态性(SNPs)检测的出现,法医领域又将迎来一场革命。SNP 检测有可能大大提高法医案件的来源归属,特别是那些涉及低数量或低质量样本的案件。如果与遗传系谱学和亲缘关系分析相结合,它可以解决无数正在审理的案件以及悬案和身份不明的遗骸案件,这些案件因现有法医能力的限制而无法利用 DNA 生成可行的调查线索。法医遗传系谱学领域与全基因组测序相结合,可以将远至七代或更远的亲属联系起来。通过利用志愿者填充的数据库查找近亲和远亲,基因谱系学可以有效缩小与犯罪现场证据相关的候选者范围,或帮助确定遗骸身份。随着 DNA 测序成本的降低和检测灵敏度的提高,法医基因系谱学正在扩大其能力,以便从各种生物证据中获取调查线索。
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来源期刊
Croatian Medical Journal
Croatian Medical Journal 医学-医学:内科
CiteScore
3.00
自引率
5.30%
发文量
105
审稿时长
6-12 weeks
期刊介绍: Croatian Medical Journal (CMJ) is an international peer reviewed journal open to scientists from all fields of biomedicine and health related research. Although CMJ welcomes all contributions that increase and expand on medical knowledge, the two areas are of the special interest: topics globally relevant for biomedicine and health and medicine in developing and emerging countries.
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