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Zhang, Lee, Seo, Lee, Jin, Cho, Lyoo, Kim, Lee, and Lee: Y Haplogroup Distribution in Korean and Other Populations
Original Article
Korean Journal of Legal Medicine

Korean Journal of Legal Medicine 2012; 36(1): 34-44.

Published online: 29 May 2012

DOI: https://doi.org/10.7580/KoreanJLegMed.2012.36.1.34

Y Haplogroup Distribution in Korean and Other Populations

Ai Hua Zhang1, Hye Young Lee1, Seung Bum Seo1, a, Hyo Jung Lee3, Hong Xuan Jin1, So Hee Cho1, Sung Hee Lyoo2, Ki Ha Kim2, Jae Won Lee3, Soong Deok Lee1, 2

1Department of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.

2Institute of Forensic Medicine, Seoul National University College of Medicine, Seoul, Korea.

3Department of Statistics, College of Political Science and Economics, Korea University, Seoul, Korea.

Corresponding author (sdlee@snu.ac.kr)

Current affiliation:

aInstitute of Applied Genetics, Department of Forensic and Investigative Genetics, University of North Texas Health Science Center, Texas, USA.

Received 9 April 2012       Accepted 10 May 2012

Copyright © 2012 The Korean Society for Legal Medicine

Abstract

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, 60 Japanese, 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 African Americans, 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 polymorphism in different Asian populations.

Keywords: Y chromosome, SNP, paternal lineage, Korean

Figures and Tables

Fig. 1
Selected 30 Y-SNPs with phylogenic tree used in this study for Y-haplogrouping. Several SNPs were selected to sub-classify haplogroup O.
kjlm-36-34-g001
Fig. 2
Electropherograms of SBE reaction of two sets. (a). SBE-A set show five markers with derived state - M168, M89, M9. M214, M175. (b). SBE-B set show one marker with derived state - M176. The SNPs M168, M89, M9. M214, M175, M176 show the derived state, which leads to the assignement of the sample to haplogroup O2b with the final marker M176.
kjlm-36-34-g002
Fig. 3
Comparison of our Koreans data with that of previously reported for other populations. Other population data were from published studies. Korean have different haplogroup distribution especially in sub-haplogroup C, D, O from Central Asia(D*), Northeast Asia(C3, O2b) and Oceania population(C*, C2, K*).
a: our data b, c, d, e, f: previously reported data.
kjlm-36-34-g003
Table 1
Primer Sequences for Amplification of Each 30 Y-SNPs. The Amplification was Done Through 5 Separate Multiplex System
kjlm-36-34-i001
Table 2
SBE Primers for Genotyping Each SNP. Genotyping was Done Through Two Separate SBE Reactions, One for Macro-haplogrouping and the Other for O Sub-haplogrouping
kjlm-36-34-i002
Table 3
Observed Haplogroup Frequency in Each Population without Sub-classification of Haplogroup O. Haplogroups Observed in Korean were not the Same with that of with African-American, Caucasian and Mexican-American
kjlm-36-34-i003

AF-AM: African-American ME-AM: Mexican-American

Table 4
Different Sub-haplogrouping for Haplogroup O in Three Northeast Asia Populations. In Korean, Sub-haplogroup O*, O2b and O3a3c1 are the Major Sub-haplogroups (Unit : %)
kjlm-36-34-i004
Table 5
Fst was Calculated Through 24 Y-SNPs Using AMOVA. Korean was the Most Closest to Chinese
kjlm-36-34-i005

AF-AM: Afrian-American, ME-AM: Mexican-American

Table 6
Fst was Calculated Through 6 Y-SNPs Using AMOVA. 6 Y-SNPs were M119, M95, M176, M134, M117, M7. Korean was More Closer to Japanese than to Chinese
kjlm-36-34-i006
Table 7
Influential Haplogroups and Prediction Probabilities for Three Northeast Asia Population
kjlm-36-34-i007

Using forward selection method, haplogroup C1, D2, O2b selected as influential haplogroups to predict each Northeast Asia population. According to logistic regression, the possibility to designate each Northeast Asia population concordancy was low using above there haplogroups.

Acknowledgments

We are grateful to National Biobank of Korea for providing DNA samples. Two anonymous reviewers are acknowledged for their helpful comments on the manuscript.

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