Cho Sohee, Kim Moon-Young, Lee Ji Hyun, Lee Hwan Young, Lee Soong Deok
Institute of Forensic and Anthropological Science, Seoul National University College of Medicine, Seoul, South Korea.
Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, South Korea.
Forensic Sci Int Genet. 2020 Jul;47:102293. doi: 10.1016/j.fsigen.2020.102293. Epub 2020 Apr 2.
Single nucleotide polymorphisms (SNPs) are valuable markers complementary to conventional forensic short tandem repeat (STR) markers in genetic typing, with potential advantages in challenging forensic casework. With the advent of high-throughput technologies, such as microarrays and massively parallel sequencing, the use of SNP typing has now expanded to large-scale forensic applications. Herein, a forensic case is presented to demonstrate the usefulness of SNP typing in identifying large-scale human bone remains with reference database construction. A total of 402 bone remains were recovered from an island in the Jeju Province of Korea where a massive disaster occurred in 1948. The first phase of the identification process was accomplished via conventional DNA typing methods including autosomal and Y-chromosomal STR typing, and mitochondrial DNA sequencing, which resulted in the identification of 74 of 402 remains. The second phase of the identification involved the remaining 327 unidentified remains using SNP typing as a supplementary tool based on Affymetrix resequencing array. The SNP markers of 782 family members were also analyzed and a reference database was constructed for comparison. An additional 51 bone remains were identified in the second phase. SNP data obtained from the supplementary genotyping yielded additional genetic information as well as contributed to kinship testing to determine the second degrees of relationship. In addition SNPs are useful in discriminating ambiguous relationship when only STR data are available. A software program developed for SNP typing system enabled efficient kinship analysis for large-scale forensic identification. The results and the casework are described and discussed.
单核苷酸多态性（SNP）是基因分型中与传统法医短串联重复序列（STR）标记互补的有价值标记，在具有挑战性的法医案件工作中具有潜在优势。随着微阵列和大规模平行测序等高通量技术的出现，SNP分型的应用现已扩展到大规模法医应用。本文介绍了一个法医案例，以证明SNP分型在构建参考数据库以识别大规模人类骨骼遗骸方面的实用性。从韩国济州岛的一个岛屿上找回了总共402具骨骼遗骸，该岛在1948年发生了一场重大灾难。鉴定过程的第一阶段通过常规DNA分型方法完成，包括常染色体和Y染色体STR分型以及线粒体DNA测序，结果在402具遗骸中鉴定出74具。鉴定的第二阶段涉及使用基于Affymetrix重测序阵列的SNP分型作为补充工具对其余327具身份不明的遗骸进行鉴定。还分析了782名家庭成员的SNP标记，并构建了一个参考数据库用于比较。在第二阶段又鉴定出51具骨骼遗骸。从补充基因分型获得的SNP数据产生了额外的遗传信息，并有助于进行亲缘关系测试以确定二级亲属关系。此外，当只有STR数据可用时，SNP在区分模糊关系方面很有用。为SNP分型系统开发的一个软件程序能够对大规模法医鉴定进行高效的亲缘关系分析。对结果和案例工作进行了描述和讨论。
