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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。

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

作者信息

Mandape Sammed N, Budowle Bruce, Mittelman Kristen, Mittelman David

机构信息

David Mittelman, Othram Inc., 2829 Technology Forest Blvd STE 100, The Woodlands, Texas 77381, USA,

出版信息

Croat Med J. 2024 Jun 13;65(3):249-260. doi: 10.3325/cmj.2024.65.249.

DOI:10.3325/cmj.2024.65.249
PMID:38868971
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11157251/
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.

摘要

多年来,法医DNA分析领域取得了重大进展,例如DNA指纹识别技术的出现、为提高灵敏度而引入的聚合酶链反应、向基于短串联重复序列的主要遗传标记系统的转变以及国家DNA数据库的建立。现在,随着密集单核苷酸多态性(SNP)检测的出现,法医领域正迎来另一场革命。SNP检测有可能显著提高法医案件中的来源归因,特别是那些涉及少量或低质量样本的案件。当与遗传谱系和亲缘关系分析相结合时,它可以解决无数未结案件以及冷案和身份不明的人类遗骸案件,这些案件因现有法医能力的限制而受阻,无法通过DNA产生可行的调查线索。法医遗传谱系学与全基因组测序相结合的领域可以关联到七代及更远的亲属。通过利用志愿者填充的数据库来定位远近亲属,遗传谱系学可以有效地缩小与犯罪现场证据相关的候选人范围,或帮助确定人类遗骸的身份。随着DNA测序成本的降低和检测灵敏度的提高,法医遗传谱系学正在扩展其从各种生物证据中生成调查线索的能力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dce0/11157251/dd9a56b1942f/CroatMedJ_65_0249-F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dce0/11157251/c613f90c3345/CroatMedJ_65_0249-F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dce0/11157251/dd9a56b1942f/CroatMedJ_65_0249-F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dce0/11157251/c613f90c3345/CroatMedJ_65_0249-F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dce0/11157251/dd9a56b1942f/CroatMedJ_65_0249-F2.jpg

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Int J Legal Med. 2023 Mar;137(2):551-565. doi: 10.1007/s00414-023-02947-w. Epub 2023 Jan 16.
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Combining genome-wide association studies highlight novel loci involved in human facial variation.全基因组关联研究突出了人类面部变异中涉及的新基因座。
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