Utility of Tri-allelic SNP markers within the forensic field.

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The single nucleotide polymorphism (SNP) provides the potential advantages in the forensic field due to the low mutation rates and the short sized products by PCR amplification. I investigated genetic information of 25 tri-allelic SNPs selected from the NCBI dbSNP database. Allele frequency for each tri-allelic SNP was calculated from direct allele counts using 96 sequenced Japanese individuals. The total discrimination power was 0.99999999999997 and the cumulative probability of exclusion was 0.99885. The allele determination of tri-allelic SNPs using SNaPshotTM was successful whereas multiplex SNapshotTM assays resulted in ambiguous and required further optimization steps, especially for quantitative measurements of mixed samples. Fundamental experiments using the deep sequencing (NGS) technology and tri-allelic SNPs provided quantitative sensitivity for two mixed DNA sample. The current NGS technology showed usefulness to discriminate quantitatively in the mixed forensic DNA sample.