Mehta Bhavik, Daniel Runa, Phillips Chris, McNevin Dennis
National Centre for Forensic Studies, Faculty of Education, Science, Technology and Mathematics (ESTeM), University of Canberra, Bruce, ACT, 2617, Australia.
Office of the Chief Forensic Scientist, Victoria Police Forensic Services Department, Macleod, VIC, 3079, Australia.
Int J Legal Med. 2017 Jan;131(1):21-37. doi: 10.1007/s00414-016-1490-5. Epub 2016 Nov 14.
Short tandem repeats are the gold standard for human identification but are not informative for forensic DNA phenotyping (FDP). Single-nucleotide polymorphisms (SNPs) as genetic markers can be applied to both identification and FDP. The concept of DNA intelligence emerged with the potential for SNPs to infer biogeographical ancestry (BGA) and externally visible characteristics (EVCs), which together enable the FDP process. For more than a decade, the SNaPshot technique has been utilised to analyse identity and FDP-associated SNPs in forensic DNA analysis. SNaPshot is a single-base extension (SBE) assay with capillary electrophoresis as its detection system. This multiplexing technique offers the advantage of easy integration into operational forensic laboratories without the requirement for any additional equipment. Further, the SNP panels from SNaPshot assays can be incorporated into customised panels for massively parallel sequencing (MPS). Many SNaPshot assays are available for identity, BGA and EVC profiling with examples including the well-known SNPforID 52-plex identity assay, the SNPforID 34-plex BGA assay and the HIrisPlex EVC assay. This review lists the major forensically relevant SNaPshot assays for human DNA SNP analysis and can be used as a guide for selecting the appropriate assay for specific identity and FDP applications.
短串联重复序列是人类身份识别的金标准,但对法医DNA表型分析(FDP)并无信息价值。单核苷酸多态性(SNP)作为遗传标记可应用于身份识别和FDP。随着SNP具有推断生物地理祖先(BGA)和外部可见特征(EVC)的潜力,DNA情报的概念应运而生,这两者共同推动了FDP进程。十多年来,SNaPshot技术一直被用于法医DNA分析中分析身份识别和与FDP相关的SNP。SNaPshot是一种单碱基延伸(SBE)检测方法,以毛细管电泳作为其检测系统。这种多重检测技术的优势在于易于整合到实际操作的法医实验室中,无需任何额外设备。此外,SNaPshot检测的SNP面板可纳入用于大规模平行测序(MPS)的定制面板中。有许多SNaPshot检测可用于身份识别、BGA和EVC分析,例如著名的SNPforID 52重身份检测、SNPforID 34重BGA检测和HIrisPlex EVC检测。本综述列出了用于人类DNA SNP分析的主要法医相关SNaPshot检测方法,可作为为特定身份识别和FDP应用选择合适检测方法的指南。