Genetic markers for massively parallel sequencing in forensics
Genetic markers for massively parallel sequencing in forensics
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DOI：
10.1016/j.fsigss.2015.12.004
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发表时间：
2015-12-01
期刊：
影响因子：
--
通讯作者：
Pakstis, Andrew J.
中科院分区：
文献类型：
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作者：
Kidd, Kenneth K.;Speed, William C.;Pakstis, Andrew J.
大规模平行测序（MPS，又称新一代测序技术NGS）正在给法医学领域带来变革。现有的法医短串联重复多态性（STRPs）在通过MPS进行分型时能提供更多信息。MPS还允许将STRPs和法医单核苷酸多态性（SNP）组合进行多重检测，以便在STRPs的身份识别信息基础上增加有关血统和表型的信息。MPS也使微单倍型成为可能：即DNA的小片段（<300bp）含有两个或更多单核苷酸多态性（SNP），能明确界定三个或更多单倍型。由于单次测序读取就能覆盖微单倍型的整个区域，这些基因座就成为了已知相位的共显性系统。在相同的工作量下，多个等位基因（单倍型）比单个SNP能提供更多的信息。目前对全球55个群体的129个基因座所获取的数据表明，这些微单倍型中的大多数似乎在法医学中对于个体识别、血统推断、关系评估，尤其是对混合物的解析都很有用。（C）2015爱思唯尔爱尔兰有限公司。保留所有权利。
Massively parallel sequencing (MPS, aka NGS) is revolutionizing the field of forensics. Existing forensic short tandem repeat polymorphisms (STRPs) are more informative when typed by MPS. MPS also allows STRPs and forensic SNP panels to be multiplexed to add information, on ancestry and phenotype, to the identification information from STRPs. MPS also makes possible microhaplotypes: small segments of DNA (< 300 bp) with two or more single nucleotide polymorphisms (SNPs) unambiguously defining three or more haplotypes. Because a single sequence read can cover the expanse of the microhaplotype, these loci become phase-known codominant systems. The multiple alleles (haplotypes) provide much more information than a single SNP for the same effort. Data now available on 129 loci characterized on 55 populations from around the globe demonstrate that the majority of these microhaplotypes appear to be useful in forensics for individual identification, ancestry inference, estimating relationships, and especially deconvoluting mixtures. (C) 2015 Elsevier Ireland Ltd. All rights reserved.