Korean J Leg Med.  2012 May;36(1):34-44. 10.7580/KoreanJLegMed.2012.36.1.34.

Y Haplogroup Distribution in Korean and Other Populations

• Zhang AH
• Lee HY
• Seo SB
• Lee HJ
• Jin HX
• Cho SH
• Lyoo SH
• Kim KH
• Lee JW
• Lee SD

• KMID: 2250315
• DOI: http://doi.org/10.7580/KoreanJLegMed.2012.36.1.34

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.

Keyword

Y chromosome; SNP; paternal lineage; Korean

MeSH Terms

African Americans
Asian Continental Ancestry Group
China
DNA, Mitochondrial
Far East
Humans
Internationality
Japan
Korea
Male
Mexican Americans
Polymorphism, Genetic
Polymorphism, Single Nucleotide
Y Chromosome
DNA, Mitochondrial

Figure

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  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.

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  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.

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  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.

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