International Journal of Legal Medicine

, Volume 124, Issue 6, pp 653–657 | Cite as

Y chromosome homogeneity in the Korean population

Short Communication

Abstract

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.

Keywords

Y chromosome SNP STR Forensic genetics Population structure Koreans 

Supplementary material

414_2010_501_MOESM1_ESM.docx (16 kb)
Table S1Y-chromosome SNPs and primer information for PCR amplification (DOCX 15 kb)
414_2010_501_MOESM2_ESM.docx (15 kb)
Table S2SBE primers for the detection of the 12 Y-SNPs used in this study (DOCX 15 kb)
414_2010_501_MOESM3_ESM.xlsx (63 kb)
Table S3List of Y-SNP haplogroups and Y-STR haplotypes of 506 Korean males (XLSX 63 kb)
414_2010_501_MOESM4_ESM.docx (30 kb)
Fig. S1Phylogenetic 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)
414_2010_501_MOESM5_ESM.docx (239 kb)
Fig. S2Representative electropherograms of Y-SNP haplogroup observed in the Korean population (DOCX 238 kb)
414_2010_501_MOESM6_ESM.docx (78 kb)
Fig. S3Distribution of the four most frequent Y-SNP haplogroups (O3, O2b*, C, and O2b1) in six Korean provinces (DOCX 78 kb)

References

  1. 1.
    Gusmão L, Butler JM, Carracedo A, Gill P, Kayser M, Mayr WR, Morling N, Prinz M, Roewer L, Tyler-Smith C, Schneider PM (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations of the use of Y-STRs in forensic analysis. Int J Leg Med 120:191–200CrossRefGoogle Scholar
  2. 2.
    Roewer L, Willuweit S, Krüger C, Nagy M, Rychkov S, Morozowa I, Naumova O, Schneider Y, Zhukova O, Stoneking M, Nasidze I (2008) Analysis of Y chromosome STR haplotypes in the European part of Russia reveals high diversities but non-significant genetic distances between populations. Int J Leg Med 122:219–223CrossRefGoogle Scholar
  3. 3.
    Chun BW, Shin SC, Kim YJ, Kim KS, Choi DH, Kim KH, Kim JY, Kang HS (2005) Allele frequencies and haplotypes of the STR loci of the PowerPlex Y-system in southern populations from Korea. Forensic Sci Int 148:225–231CrossRefPubMedGoogle Scholar
  4. 4.
    Hwang JH, Lee H, Lee YA, Han MS, Kim W, Jin I, Cho NS (2007) Haplotypes for 12 Y-chromosomal STR loci in a Korean population (the central region). Forensic Sci Int 168:73–84CrossRefPubMedGoogle Scholar
  5. 5.
    Kim SH, Kim NY, Hong SB, Cho NS, Kim JJ, Han MS, Kim W (2008) Genetic polymorphisms of 16 Y chromosomal STR loci in Korean population. Forensic Sci Int Genet 2:e9–e10CrossRefPubMedGoogle Scholar
  6. 6.
    Nonaka I, Minaguchi K, Takezaki N (2007) Y-chromosomal binary haplogroups in the Japanese population and their relationship to 16 Y-STR polymorphisms. Ann Hum Genet 71:480–495CrossRefPubMedGoogle Scholar
  7. 7.
    Mizuno N, Kitayanma T, Fujii K, Nakahara H, Yoshida K, Sekiguchi K, Yonezawa N, Nakano M, Kasai K (2010) A forensic method for the simultaneous analysis of biallelic markers identifying Y chromosome haplogroups inferred as having originated in Asia and the Japanese archipelago. Forensic Sci Int Genet 4:73–79CrossRefPubMedGoogle Scholar
  8. 8.
    Robino C, Crobu F, Di Gaetano C, Bekada A, Benhamamouch S, Cerutti N, Piazza A, Inturri S, Torre C (2008) Analysis of Y-chromosomal SNP haplogroups and STR haplotypes in an Algerian population sample. Int J Leg Med 122:251–255CrossRefGoogle Scholar
  9. 9.
    Ferri G, Tofanelli S, Alù M, Taglioli L, Radheshi E, Corradini B, Paoli G, Capelli C, Beduschi G (2010) Y-STR variation in Albanian populations: implications on the match probabilities and the genetic legacy of the minority claiming an Egyptian descent. Int J Leg Med. doi:10.1007/s00414-010-0432-x Google Scholar
  10. 10.
    Willuweit S, Roewer L, International Forensic Y Chromosome User Group (2007) Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet 1:83–87CrossRefPubMedGoogle Scholar
  11. 11.
    Karafet TM, Mendez FL, Meilerman MB, Underhill PA, Zegura SL, Hammer MF (2008) New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Genome Res 18:830–838CrossRefPubMedGoogle Scholar
  12. 12.
    Sanchez JJ, Børsting C, Hallenberg C, Buchard A, Hernandez A, Morling N (2003) Multiplex PCR and minisequencing of SNPs—a model with 35 Y chromosome SNPs. Forensic Sci Int 137:74–84CrossRefPubMedGoogle Scholar
  13. 13.
    Nei M (1987) Molecular evolutionary genetics. Columbia University, New YorkGoogle Scholar
  14. 14.
    Excoffier L, Laval G, Schneider S (2005) Arlequin (version 3.0): an integrated software package for population genetics data analysis. Evol Bioinform Online 1:47–50PubMedGoogle Scholar
  15. 15.
    Lee JW, Lee HS, Hwang JJ (2002) Statistical analysis for estimating heterogeneity of the Korean population in DNA typing using STR loci. Int J Leg Med 116:153–160CrossRefGoogle Scholar
  16. 16.
    Hong SB, Jin HJ, Kwak KD, Kim W (2006) Y-chromosome haplogroup O3-M122 variation in East Asia and its implications for the peopling of Korea. Korean J Genet 28:1–8Google Scholar
  17. 17.
    Xue Y, Zerjal T, Bao W, Zhu S, Shu Q, Xu J, Du R, Fu S, Li P, Hurles ME, Yang H, Tyler-Smith C (2006) Male demography in East Asia: a north–south contrast in human population expansion times. Genetics 172:2431–2439CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.DNA Analysis DivisionNational Institute of Scientific InvestigationSeoulSouth Korea
  2. 2.Department of Biological SciencesDankook UniversityCheonanSouth Korea
  3. 3.School of Biological SciencesSeoul National UniversitySeoulSouth Korea

Personalised recommendations