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Kor. J. Legal Med. Vol. 27, No. 1 = Abstract = A Korean population study for the COfiler STR loci (D3S1358, D16S539, TH01, TPOX, CSF1PO, D7S820) Jeong-Seung Kwon, Kyoung-Jin Shin 2, 4, 5, Yun-Seok Yang 2, Gil-Ro Han 3, 4, 5, Chong-Youl Kim 1, 2, 5 1, 2, 5, Jong-Hoon Choi Department of Oral Diagnosis and Oral Medicine, College of Dentistry, Yonsei University 2 Department of Forensic Medicine, College of Medicine, Yonsei University 3 Department of Forensic Medicine, National Institute of Scientific Investigation 4 Biometrics Engineering Research Center, Yonsei University 5 Human Identification Research Institute, Yonsei University In the United States, the Federal Bureau of Investigation (FBI) officially launched its national DNA database. This database, named the combined DNA Index System (CODIS), included one genderdetermining amelogenin and 13 polymorphic short tandem repeats (STR) loci. To introduce a new STR system, a population database for the relevant population must be established for the statistical analysis of forensic cases. AmpFlSTR Profiler Plus PCR Amplification Kit (Profiler Plus Kit) and AmpFlSTR COfiler PCR Amplification Kit (COfiler Kit) are required to obtain information from all the 13 CODIS core STR loci. Study on 9 STR loci using Profiler Plus kit was already performed in a Korean population, but not yet on 6 STR loci using COfiler Kit. This study intends to evaluate usefulness of 6 COfiler STR loci (D3S1358, D16S539, TH01, TPOX, CSF1PO, D7S820) in forensic identification. Buccal swab samples obtained from 300 randomly selected unrelated Koreans. DNA was extracted from the buccal swab samples and multiplex polymerase chain reaction (PCR) was performed using the COfiler Kit to amplify it. And using automated DNA sequencer and computer program, the allele and genotype frequency distribution is investigated and statistical analysis was performed for the PCR products. The following results were obtained: 65

1. The observed heterozygosity at each STR locus ranged from 0.650 to 0.800 and the expected heterozygosity at each STR locus ranged from 0.642 to 0.787. 2. The polymorphism information content (PIC) at each STR locus ranged from 0.583 to 0.752 and is higher than 0.5 for all loci to have relatively high information content. 3. The power of discrimination (PD) at each STR locus ranged from 0.811 to 0.921 and the combined power of discrimination is calculated to be 0.999996. 4. The mean exclusion chance (MEC) at each STR locus ranged from 0.386 to 0.576 and the combined mean exclusion chance is calculated to be 0.98088. Based on the results of this study, 6 COfiler STR loci may be useful in forensic identification including finding an individual in relation to criminal case and paternity testing. Key Words : COfiler, STR loci, CODIS, individual identification, D3S1358, D16S539, TH01, TPOX, CSF1PO, D7S820 66

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Table 1. Allele frequency distribution of the D3S1358 locus in a Korean population Allele 12 13 14 15 16 17 18 19 12 0 13 0 0 14 0 1 00 15 0 0 10 049 16 2 1 08 063 025 17 0 0 01 054 042 012 18 0 0 00 017 008 005 00 19 0 0 00 001 001 000 00 0 Observed No. 2 2 20 243 175 126 30 2 Frequency 0.003 0.003 0.033 0.405 0.292 0.210 0.050 0.003 Fig. 1. AmpFlSTR COfiler multiplex STR data for D3S1358 and D16S539 loci. 70

Table 2. Allele frequency distribution of the D16S539 locus in a Korean population Allele 8 9 10 11 12 13 14 08 0 09 0 20 10 0 30 01 11 0 38 20 22 12 0 34 23 31 13 13 1 09 10 18 21 04 14 0 03 00 02 00 00 0 Observed No. 1 154 85 153 135 67 5 Frequency 0.002 0.257 0.142 0.255 0.225 0.112 0.008 Fig. 2. AmpFlSTR COfiler multiplex STR data for TH01, TPOX and CSF1PO loci. 71

Table 3. Allele frequency distribution of the TH01 locus in a Korean population Allele 6 7 8 9 9.3 10 60. 008 70. 025 015 80. 003 003 00 90. 052 066 12 080 9.3 004 005 00 018 00 1000. 000 002 00 003 02 02 Observed No. 100 131 18 311 29 11 Frequency 0.167 0.218 0.030 0.518 0.048 0.018 Table 4. Allele frequency distribution of the TPOX locus in a Korean population Allele 8 9 10 11 12 13 08 75 09 28 03 10 10 05 00 11 95 26 04 026 12 16 05 00 005 00 13 01 00 00 001 00 0 Observed No. 300 70 19 183 26 2 Frequency 0.500 0.117 0.032 0.305 0.043 0.003 Table 5. Allele frequency distribution of the CSF1PO locus in a Korean population Allele 7 8 9 10 11 12 13 14 07 0 08 0 0 09 0 0 02 10 1 1 06 014 11 0 0 02 031 012 12 1 0 07 067 065 043 13 0 0 02 013 010 016 01 14 0 0 00 003 003 000 00 0 Observed No. 2 1 21 150 135 242 43 6 Frequency 0.003 0.002 0.035 0.250 0.225 0.403 0.072 0.010 72

Fig. 3. AmpFlSTR COfiler multiplex STR data for D7S820 locus. Table 6. Allele frequency distribution of the D7S820 locus in a Korean population Allele 7 8 9 10 11 12 13 14 07 0 08 0 04 09 0 05 01 10 0 19 06 008 11 1 30 12 046 033 12 0 25 06 021 040 018 13 0 04 01 005 007 005 00 14 0 01 00 000 001 001 00 0 Observed No. 1 92 32 113 203 134 22 3 Frequency 0.002 0.153 0.053 0.188 0.338 0.223 0.037 0.005 Table 7. Statistical parameters for the COfiler STR loci Locus D3S1358 D16S539 TH01 TPOX CSF1PO D7S820 obs-h a 0.713 0.800 0.650 0.653 0.760 0.787 exp-h b 0.704 0.787 0.653 0.642 0.719 0.774 PIC c 0.651 0.752 0.607 0.583 0.671 0.738 PD d 0.865 0.921 0.837 0.811 0.864 0.915 MEC e 0.452 0.576 0.415 0.386 0.477 0.562 a obs-h: Observed heterozygosity, b exp-h: Expected heterozygosity c PIC: Polymorphic information contents, d PD: Power of discrimination, e MEC: Mean exclusion chance 73

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