Y Haplogroup Distribution in Korean and Other Populations

Korean J Leg Med. 2012May;36(1):34-44. Korean.

Department of Forensic Medicine, Institute of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea, sdlee@snu.ac.kr

Department of Statistics, College of Political Science and Economics, Korea University, Seoul, Korea

With globalization, international exchange has increased. Accordingly, the necessity for individual identification using genetic polymorphism has also increased. Paternal lineages are distributed differently, and different distribution patterns can be used to predict ancestry. We studied the distribution pattern of different paternal lineages in Korea and compared them with other populations. All 30 SNPs on the Y chromosome were selected for paternal lineage confirmation. Loci that could subclassify haplogroup O, the most frequent in the East Asian population, were added. After multiplex amplification for the target loci, SBE reactions were set up for each SNP site. One hundred Korean men as well as 60 Chinese, 60Japanese, 19 African-American, 48 Caucasian, and 47 Mexican American were tested and compared. Five Y haplogroups [C (C3), D (D2), NO, O, Q (Q1a1)] were found in Koreans, with haplogroup O being the most frequent. Haplogroup O sub-classified into O* (24%), O1 (6%), O2b (39%), O3a3c (4%), O3a3c1 (13%), and O3a3b(1%).This distribution pattern was similar to that of Chinese or Japanese, but minor differences were noted. With Fst, the Korean and Japanese patterns were close (0.01757)when using 6 SNPs. There were significant differences between Koreans and AfricanAmericans, Caucasians and Mexican Americans, and they were easily discernible without requiring haplogroup O sub-classification Sub-classification of haplogroup O is likely to be useful for East Asia group comparisons. Additional studies in populations from different areas of China or Japan or studies of mtDNA or autosomes may enhance the discrimatory power of genetic polymorphismin different Asian populations.

Key words : Y chromosome, SNP, paternal lineage, Korean

Original article