Abstract
Single nucleotide polymorphisms (SNPs) appeal to the forensic DNA community because of their abundance in the human genome, low mutation rate, small amplicon size, and feasibility of high-throughput genotyping technologies. In an initial screening, we identified six SNP markers of sex determination by resequencing the amelogenin genes and the zinc finger protein genes located on the sex chromosomes. Furthermore, for use in human identification, we selected 30 highly polymorphic autosomal SNP markers from among a human population and examined the potential utility of these SNP markers for human identification. The combined mean match probability of 30 SNP markers was 4.83 × 10−13. Using genotyping data from 8,842 unrelated Korean individuals, we also found that discrimination power increased 10-fold for the addition of every five SNP markers in human identification. In this study, we demonstrated that SNP markers are very useful for sex determination and human identification, even in a very homogeneous population.
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Acknowledgments
This study was supported by a grant from the Korea Centers for Disease Control (2008-S6-E-001) and a grant from the Ministry of Health and Welfare, Republic of Korea (01-PJ10-PG6-01GN15-001).
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Jae-Jung Kim and Bok-Ghee Han contributed equally to this work.
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Supplementary Table 1
Validation of 30 SNP markers in 960 individuals using the Illumina VeraCode GoldenGate assay (DOC 61 kb)
Supplementary Table 2
Validation of 30 highly polymorphic SNP markers in 8,842 unrelated Korean individuals (DOC 61 kb)
Supplementary Fig. 1
Identification of sex determining SNPs within the amelogenin genes. Highly homologous regions of the amelogenin genes (AMEL-X and AMEL-Y) were resequenced in female (n = 12) and male (n = 12) DNA samples to identify sex-determining SNPs. Three candidate sex-determining SNP sites (i.e., AMEL-1, AMEL-2, and AMEL-3) were identified (GIF 3 kb)
Supplementary Fig. 2
Identification of SNPs in genes encoding zinc finger proteins, for use in sex determination. Highly homologous regions of genes encoding zinc finger proteins (ZFX and ZFY) were resequenced in female (n = 12) and male (n = 12) DNA samples to identify sex-determining SNPs. Three candidate sex-determining SNP sites (i.e., ZF-1, ZF-2 and ZF-3) were identified (GIF 3 kb)
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Kim, JJ., Han, BG., Lee, HI. et al. Development of SNP-based human identification system. Int J Legal Med 124, 125–131 (2010). https://doi.org/10.1007/s00414-009-0389-9
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DOI: https://doi.org/10.1007/s00414-009-0389-9