Tohoku J. Exp. Med., 2005, 207(4)

Forensic Assessment of 16 Single Nucleotide Polymorphisms Analyzed by Hybridization Probe Assay

MASAHIRO HIRATSUKA, NAOKO TSUKAMOTO, YUMIKO KONNO, MASAYUKI NATA,1 MASAKI HASHIYADA,2 MASATO FUNAYAMA2 and MICHINAO MIZUGAKI

Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, Sendai, Japan, 1Department of Forensic Medicine and Sciences, Division of Social Environmental Medicine, Mie University Graduate School of Medicine, Mie, Japan, and 2Division of Forensic Medicine, Department of Public Health and Forensic Medicine, Tohoku University, Graduate School of Medicine, Sendai, Japan

Of a number of DNA marker typing techniques for personal identification in the field of forensic medicine, polymorphic short tandem repeat (STR) typing is currently the most frequently used technique. However, the multiplex STR method is time consuming. In contrast, single nucleotide polymorphism (SNP) detection methods are relatively rapid and amenable to high throughput. The discrimination power of each SNP is inferior to that of an STR, but a combination of many SNPs could realize a high discriminating power. In this regard, 16 highly informative SNP markers were selected in the introns of genes whose alleles had a proportion of 0.4-0.6 in the Japanese SNP database. The 16 SNPs were sequentially detected within 40 min using the hybridization probe assay on the LightCycler system. The allele and genotype frequencies of these SNPs were determined in a group comprising 64 unrelated Japanese subjects. Based on the frequency data of this group, the combined matching probability, defined as the estimated probability that two unrelated individuals selected at random would possess identical multilocus genotypes, was calculated with the 16 SNPs in the Japanese population and was found to be 2.025 × 10-7. This system is an effective tool in the forensic medicine to obtain information on personal identification.

keywords —— SNP; polymorphisms; hybridization probe assay; forensics; personal identification

© 2005 Tohoku University Medical Press

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Tohoku J. Exp. Med., 2005, 207, 255-261

Correspondence: Michinao Mizugaki, Ph.D., Department of Clinical Pharmaceutics, Tohoku Pharmaceutical University, 4-4-1 Komatsushima, Aoba-ku, Sendai 981-8558, Japan.

e-mail: mizugaki@tohoku-pharm.ac.jp