García O, Ajuriagerra J A, Alday A, Alonso S, Pérez J A, Soto A, Uriarte I, Yurrebaso I
Forensic Science Unit, Forensic Genetics Section, Basque Country Police, Erandio, Bizkaia, Spain.
Forensic Science Unit, Forensic Genetics Section, Basque Country Police, Erandio, Bizkaia, Spain.
Forensic Sci Int Genet. 2017 Nov;31:e1-e4. doi: 10.1016/j.fsigen.2017.09.006. Epub 2017 Sep 12.
The Precision ID Ancestry Panel for the Ion Torrent PGM™ platform is able to genotype 165 autosomal SNPs by massively parallel sequencing (MPS). In the present study, we evaluated the depth of coverage, the locus strand balance and the heterozygote balance of the above panel. The SNPs rs1569175, rs2306040, rs9845457, rs1407434, and rs10007810 showed a low performance, due either to a low coverage, locus strand imbalance or heterozygote imbalance. To further to assess this panel, we analyzed 108 Basques. All loci proved to be in Hardy-Weinberg equilibrium and we did not detect any association between them with the exception of the pair rs3916235-rs4891825 in chromosome 18. The forensic parameters combined match probability and combined power of exclusion were estimated to be 3.13×10 and 99.9972%, respectively. In conclusion, the Precision ID Ancestry panel along with this new MPS technology constitute a very promising tool for human identification and biogeographical ancestry inference in routine casework in the forensic field.
用于Ion Torrent PGM™平台的Precision ID祖先检测试剂盒能够通过大规模平行测序（MPS）对165个常染色体单核苷酸多态性（SNP）进行基因分型。在本研究中，我们评估了上述检测试剂盒的覆盖深度、位点链平衡和杂合子平衡。单核苷酸多态性rs1569175、rs2306040、rs9845457、rs1407434和rs10007810表现不佳，原因是覆盖度低、位点链不平衡或杂合子不平衡。为了进一步评估该检测试剂盒，我们分析了108名巴斯克人。所有位点均符合哈迪-温伯格平衡，除了18号染色体上的rs3916235-rs4891825这一对位点外，我们未检测到它们之间存在任何关联。法医参数联合匹配概率和联合排除能力分别估计为3.13×10和99.9972%。总之，Precision ID祖先检测试剂盒与这项新的MPS技术一起，构成了法医领域常规案件工作中用于人类身份识别和生物地理祖先推断的非常有前景的工具。
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