Pereira Vania, Mogensen Helle S, Børsting Claus, Morling Niels
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
Section of Forensic Genetics, Department of Forensic Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark.
Forensic Sci Int Genet. 2017 May;28:138-145. doi: 10.1016/j.fsigen.2017.02.013. Epub 2017 Feb 24.
The application of massive parallel sequencing (MPS) methodologies in forensic genetics is promising and it is gradually being implemented in forensic genetic case work. One of the major advantages of these technologies is that several traditional electrophoresis assays can be combined into one single MPS assay. This reduces both the amount of sample used and the time of the investigations. This study assessed the utility of the Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA) in forensic genetics. This assay was developed for the Ion Torrent PGM™ System and genotypes 165 ancestry informative SNPs. The performance of the assay and the accompanying software solution for ancestry inference was assessed by typing 142 Danes and 98 Somalis. Locus balance, heterozygote balance, and noise levels were calculated and future analysis criteria for crime case work were estimated. Overall, the Precision ID Ancestry Panel performed well, and only minor changes to the recommended protocol were implemented. Three out of the 165 loci (rs459920, rs7251928, and rs7722456) had consistently poor performance, mainly due to misalignment of homopolymeric stretches. We suggest that these loci should be excluded from the analyses. The different statistical methods for reporting ancestry in forensic genetic case work are discussed.
大规模平行测序(MPS)方法在法医遗传学中的应用前景广阔,并且正逐渐在法医遗传学案件工作中得到应用。这些技术的主要优点之一是可以将几种传统的电泳检测合并到一个单一的MPS检测中。这既减少了样本用量,又缩短了调查时间。本研究评估了Precision ID祖先面板(美国赛默飞世尔科技公司,沃尔瑟姆)在法医遗传学中的实用性。该检测是为Ion Torrent PGM™系统开发的,可对165个祖先信息性单核苷酸多态性(SNP)进行基因分型。通过对142名丹麦人和98名索马里人进行分型,评估了该检测及随附的祖先推断软件解决方案的性能。计算了基因座平衡、杂合子平衡和噪声水平,并估计了未来犯罪案件工作的分析标准。总体而言,Precision ID祖先面板表现良好,仅对推荐方案进行了微小改动。165个基因座中的3个(rs459920、rs7251928和rs7722456)表现一直不佳,主要是由于同聚物延伸的错配。我们建议在分析中排除这些基因座。讨论了法医遗传学案件工作中报告祖先的不同统计方法。