Sequence Analysis of ABO Gene in Korean for Individual Identification.

Korean J Leg Med. 2002 May;26(1):55-67. Korean.

Department of Forensic Medicine, College of Medicine, Yonsei University, Korea. kjshin@yumc.yonsei.ac.kr

Department of Oral Diagnosis and Oral Medicine, College of Dentistry, Chosun University, Korea.

Department of Oral Biology, College of Dentistry, Yonsei University, Korea.

This study intends to evaluate usefulness of ABO gene in forensic identification. The genotype and allele frequency of ABO gene was investigated and the power of identification information of ABO gene was calculated. 100 unrelated Korean individuals were selected. DNA was extracted from sample and PCR and sequencing were performed to analyze sequence of exon 6 and exon 7 in ABO gene, the following results were obtained: 1. The polymorphic nucleotide positions of ABO gene are 216, 297 in exon 6 (2 positions) and 467, 526, 579, 646, 657, 681, 703, 771, 796, 803, 829, 930 in exon 7 (12 positions) in Korean. 2. Amomg Korean population, 18 ABO genotypes and 7 alleles were observed. O01 is most frequent (27.6%) and then A102 (22.0%), B101 (22.0%), O02 (21.0%). 3. In A type allele, the frequencies of A101 and A102 are 21.4%, 78.6% respectively. And in B type, B101 is 97.7%, the most part of them. In O type, O01 is 56.0%, O02 is 42.0% and O04 is 2.0%. 4. The observed heterozygosity and the expected heterozygosity is 0.670, 0.784 each. The polymorphism information content (PIC) is 0.744. The power of discrimination (PD) and the mean exclusion chance (MEC) are calculated to be 0.924 and 0.576. Based on the results of this study, the determination of ABO genotype by sequencing may be useful in forensic identification including finding an individual in relation to criminal case, paternity test, and confirming possible relationships between family members.

Key words: ABO, Genotype, Allele, Individual identification, Sequencing