法医遗传学的下一个前沿：单细胞遗传分析及其不断扩大的作用
The next frontier in forensic genetics: Single-cell genetic analysis and its expanding role.
摘要(中文译文)
标准短串联重复序列（STR）DNA分型技术通过实现常规及复杂案件中的可靠人类身份识别，彻底改变了法医学。然而，传统的“批量”DNA提取与分析本质上会同时检测到斑迹中所有生物学贡献者的等位基因，从而可能干扰DNA混合样本的解释。概率基因分型软件（PGS）极大地提高了具有证据价值的遗传信息的获取能力，但复杂混合样本——例如涉及众多个体、一级亲属或低模板量贡献者的样本——仍然难以实现完全或可靠的去卷积。单细胞法医遗传学已成为解决这些局限性的有前景的方案。单细胞方法并非分析细胞及无细胞物质的混合池，而是分离单个细胞并进行基因分型（通常每个样本数十至数百个细胞），再通过统计学方法汇总这些图谱以推断各单一来源贡献者的基因型。在本综述中，我们考察了单细胞DNA分析（scDNA）在法医学中的演变历程；当前的细胞回收、分离与基因分型方法；数据解释策略；案件应用；局限性与验证挑战；以及未来研究方向。我们特别关注过去几年中出现的重大方法学进展和实证发现。总体而言，这些发展表明单细胞分析可能成为现有法医DNA方法的重要补充，尤其针对案件中最具挑战性的混合样本类型。
Abstract
Standard short tandem repeat (STR) DNA profiling has transformed forensic science by enabling reliable human identification across routine and complex casework. However, conventional 'bulk' DNA extraction and analysis inherently co-detect alleles from all biological contributors within a stain, thus potentially confounding the interpretation of DNA mixtures. Probabilistic genotyping software (PGS) has greatly improved the recovery of probative genetic information however complex mixtures such as those involving numerous individuals, first-degree relatives, or contributors present at low template levels, remain resistant to complete or confident deconvolution. Single-cell forensic genetics has emerged as a promising solution to these limitations. Rather than analyzing a pooled mixture of cellular and cell-free material, single-cell approaches isolate and genotype individual cells, typically tens to hundreds per sample, and statistically aggregate these profiles to infer the constituent single-source donor genotypes. In this review, we examine the evolution of single-cell DNA analysis (scDNA) within forensic science; current methods for cell recovery, isolation, and genotyping; approaches to data interpretation; casework applications; limitations and validation challenges; and future research directions. We place special emphasis on the significant methodological advances and empirical findings that have emerged in the past several years. Collectively, these developments signal that single-cell analysis may become an important supplement to established forensic DNA methods, particularly for the most challenging mixture types encountered in casework.
如何引用
AMA
Jack Ballantyne, Catherine M Grgicak, Michael A Marciano. The next frontier in forensic genetics: Single-cell genetic analysis and its expanding role.. Forensic science international. Genetics. 2027; doi:10.1016/j.fsigen.2026.103568.
APA
Jack Ballantyne, Catherine M Grgicak, Michael A Marciano (2027). The next frontier in forensic genetics: Single-cell genetic analysis and its expanding role.. Forensic science international. Genetics. https://doi.org/10.1016/j.fsigen.2026.103568
GB/T 7714
Jack Ballantyne, Catherine M Grgicak, Michael A Marciano. The next frontier in forensic genetics: Single-cell genetic analysis and its expanding role.[J]. Forensic science international. Genetics, 2027 doi:10.1016/j.fsigen.2026.103568.
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