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一种用于降解人 DNA 分检的 mini-multiplex SNaPshot assay。

A mini-multiplex SNaPshot assay for the triage of degraded human DNA.

机构信息

Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, North Terrace, Adelaide, South Australia, 5005, Australia.

Australian Centre for Ancient DNA, School of Biological Sciences, University of Adelaide, North Terrace, Adelaide, South Australia, 5005, Australia.

出版信息

Forensic Sci Int Genet. 2018 May;34:62-70. doi: 10.1016/j.fsigen.2018.02.006. Epub 2018 Feb 6.

Abstract

Short Tandem Repeat (STR) genotyping is currently the primary DNA-based method for human identification, however it can have limited success when applied to degraded human remains. Massively parallel sequencing (MPS) provides new opportunities to obtain genetic data for hundreds of loci in a single assay with higher success from degraded samples. However, due to the extra requirement for specialised equipment, expertise and resources, routine use of MPS may not be feasible or necessary for many forensic cases. Here we describe the development of a mini-multiplex SNaPshot screening tool (Miniplex) for human samples which allows the qualitative comparison of short mitochondrial and nuclear DNA targets, as well as the interrogation of biogeographic ancestry, lineage, and phenotype single nucleotide polymorphisms (SNPs). This tool is useful to triage samples based on sample quality prior to downstream identification workflows and provides broad biological profile data for intelligence purposes.

摘要

短串联重复序列(STR)基因分型目前是人类身份识别的主要基于 DNA 的方法,然而,当应用于降解的人类遗骸时,其成功率可能有限。大规模平行测序(MPS)为在单个测定中获得数百个基因座的遗传数据提供了新的机会,并从降解的样本中获得更高的成功率。然而,由于需要专门的设备、专业知识和资源,MPS 的常规使用对于许多法医学案例可能不可行或不必要。在这里,我们描述了一种用于人类样本的迷你多重 SNaPshot 筛选工具(Miniplex)的开发,该工具允许对短线粒体和核 DNA 靶标进行定性比较,以及对生物地理祖先、谱系和表型单核苷酸多态性(SNP)的检测。该工具可用于在下游鉴定工作流程之前根据样本质量对样本进行分类,并为情报目的提供广泛的生物学特征数据。

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