Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333, ZC, Leiden, The Netherlands; Division of Biological Traces, Netherlands Forensic Institute, Laan van Ypenburg 6, 2497GB, The Hague, The Netherlands.
Department of Human Genetics, Leiden University Medical Center, Einthovenweg 20, 2333, ZC, Leiden, The Netherlands.
Forensic Sci Int Genet. 2018 Jul;35:169-175. doi: 10.1016/j.fsigen.2018.05.008. Epub 2018 May 22.
Since two decades, short tandem repeats (STRs) are the preferred markers for human identification, routinely analysed by fragment length analysis. Here we present a novel set of short hypervariable autosomal microhaplotypes (MH) that have four or more SNPs in a span of less than 70 nucleotides (nt). These MHs display a discriminating power approaching that of STRs and provide a powerful alternative for the analysis;1;is of forensic samples that are problematic when the STR fragment size range exceeds the integrity range of severely degraded DNA or when multiple donors contribute to an evidentiary stain and STR stutter artefacts complicate profile interpretation. MH typing was developed using the power of massively parallel sequencing (MPS) enabling new powerful, fast and efficient SNP-based approaches. MH candidates were obtained from queries in data of the 1000 Genomes, and Genome of the Netherlands (GoNL) projects. Wet-lab analysis of 276 globally dispersed samples and 97 samples of nine large CEPH families assisted locus selection and corroboration of informative value. We infer that MHs represent an alternative marker type with good discriminating power per locus (allowing the use of a limited number of loci), small amplicon sizes and absence of stutter artefacts that can be especially helpful when unbalanced mixed samples are submitted for human identification.
二十年来，短串联重复序列（STRs）一直是人类身份鉴定的首选标记物，通常通过片段长度分析进行分析。在这里，我们提出了一组新的短串联重复序列（STRs），这些短串联重复序列（STRs）具有四个或更多的 SNP，跨度小于 70 个核苷酸（nt）。这些微单倍型（MH）具有与 STRs 相当的区分能力，并为分析提供了一种强大的替代方法；1；是法医样本的分析，当 STR 片段大小范围超过严重降解 DNA 的完整性范围时，或者当多个供体对证据污渍做出贡献并且 STR 重影伪像使谱图解释复杂化时，这些方法是有问题的。MH 分型是使用大规模平行测序（MPS）的强大功能开发的，从而实现了新的强大、快速和有效的基于 SNP 的方法。从 1000 基因组和荷兰基因组（GoNL）项目的数据查询中获得了 MH 候选物。对 276 个全球分布的样本和 97 个九个大型 CEPH 家族的样本进行了湿实验室分析，协助了基因座选择和信息价值的证实。我们推断，MH 代表一种替代的标记类型，每个基因座的区分能力都很好（允许使用有限数量的基因座），扩增子大小小，没有重影伪像，当提交不平衡的混合样本进行人类身份鉴定时，这些特征尤其有帮助。
