The distribution of Y-chromosomal variation from the 12 Y-SNP and 17 Y-STR markers was determined in six major provinces (Seoul-Gyeonggi, Gangwon, Chungcheong, Jeolla, Gyeongsang, and Jeju) to evaluate these populations’ possible genetic structure and differentiation in Korea. As part of the present study, a 10-plex SNaPshot assay and two singleplex SNaPshot assays were developed. Based on the result of 12 Y-SNP markers (M9, M45, M89, M119, M122, M174, M175, M214, RPS4Y, P31, SRY465, and 47z), almost 78.9% of tested samples belonged to haplogroup O-M175 (including its subhaplogroups O3-M122: 44.3%, O2b*-SRY465: 22.5%, O2b1-47z: 8.7%), and 12.6% of the tested samples belonged to haplogroup C-RPS4Y. A total of 475 haplotypes were identified using 17 Y-STR markers included in the Yfiler kit, among which 452 (95.2%) were individual-specific. The overall haplotype diversity for the 17 Y-STR loci was 0.9997 and the discrimination capacity was 0.9387. Pairwise genetic distances and AMOVA of the studied Korean provinces reflected no patrilineal substructure in Korea, except for Jeju Island. Thus, this survey shows that the present data of Korean individuals could be helpful to establish a comprehensive forensic reference database for frequency estimation.
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The authors would like to thank all volunteers for providing DNA samples. They also thank K.C. Kim and N.Y. Kim for technical assistance and data analysis of this survey. The present research was conducted by the research fund of Dankook University in 2009.
Wook Kim and Won Kim contributed equally to this paper.
Electronic supplementary materials
Below is the link to the electronic supplementary material.
Y-chromosome SNPs and primer information for PCR amplification (DOCX 15 kb)
SBE primers for the detection of the 12 Y-SNPs used in this study (DOCX 15 kb)
List of Y-SNP haplogroups and Y-STR haplotypes of 506 Korean males (XLSX 63 kb)
Phylogenetic tree defined with the 12 Y-SNP polymorphisms and scheme of the method for SNP genotyping. Gray color squares represent 10-plex PCR set (M45, M89, M119, M122, M174, M175, M214, P31, SRY465, and 47z) and black color squares represent two singleplex PCRs (RPS4Y and M9) (DOCX 30 kb)
Representative electropherograms of Y-SNP haplogroup observed in the Korean population (DOCX 238 kb)
Distribution of the four most frequent Y-SNP haplogroups (O3, O2b*, C, and O2b1) in six Korean provinces (DOCX 78 kb)
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Kim, S.H., Han, M.S., Kim, W. et al. Y chromosome homogeneity in the Korean population. Int J Legal Med 124, 653–657 (2010). https://doi.org/10.1007/s00414-010-0501-1
- Y chromosome
- Forensic genetics
- Population structure