Abstract
Korea has been divided into South Korea and North Korea for over 70 years. DNA profiles of the North Korean population have never been reported in the Y-chromosome STR Haplotype Reference Database (YHRD; https://yhrd.org). To investigate genetic features of Y-chromosome STR haplotypes of the North Korean population for the first time. Genomic DNA was isolated from 838 cigarette butts assumed to have been smoked by North Korean men and amplified with PowerPlex Y23 (PPY23) kit. Statistical parameters were calculated using Nei’s formula and analysis of molecular variance (AMOVA). Multidimensional scaling (MDS) plot was constructed by the AMOVA tool and neighbor-joining (NJ) tree was constructed by MEGA 6.06. A total of 121 haplotypes were analyzed for PPY23 loci from a sample population. Haplotype diversity and discrimination capacity were 0.9992 and 0.9837, respectively. Genetic diversities ranged from 0.2981 to 0.9716. For the 16 Y-filer loci and eight minimal loci, respectively 90.9 and 82.6% of the matched haplotypes were estimated to belong to haplogroup O, representing the Southeast and East Asian type. The MDS plot and NJ tree indicated that the samples are most closely related to South Korean. In addition, p-value in the pairwise comparison to the South Korean was slightly above statistical significance (p = 0.0534). The Y-STR haplotypes of the samples were unique and highly genetically polymorphic. Despite the separation between North and South Korea for 70 years, they can still be considered a single genetic population, based on Y-STR haplotypes.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bhoopat T, Hohoff C, Steger HF (2003) Identification of DYS385 allele variants by using shorter amplicons and Northern Thai haplotype data. J Forensic Sci 48:1108–1112
Butler JM (2003) Recent developments in Y-short tandem repeat and Y-single nucleotide polymorphism analysis. Forensic Sci Rev 15(2):91–111
Hammer MF, Karafet TM, Park H, Omoto K, Harihara S, Stoneking M, Horai S (2006) Dual origins of the Japanese: common ground for hunter-gatherer and farmer Y chromosomes. J Hum Genet 51(1):47–58
Jin HJ, Kwak KD, Hammer MF, Nakahori Y, Shinka T, Lee JW, Jin F, Jia X, Tyler-Smith C, Kim W (2003) Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans. Hum Genet 114:27–35
Jin HJ, Tyler-Smith C, Kim W (2009) The peopling of Korea revealed by analyses of mitochondrial DNA and Y-chromosomal markers. PLoS One 4(1):e4210
Jobling MA, Tyler-Smith C (2003) The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 4:598–612
Karafet T, Xu L, Du R, Wang W, Feng S, Wells RS, Redd AJ, Zegura SL, Hammer MF (2001) Paternal population history of East Asia: sources, patterns, and microevolutionary processes. Am J Hum Genet 69:615–628
Karafet TM, Lansing JS, Redd AJ, Reznikova S, Walkins JC, Surata SP, Arthawiquna WA, Mayer L, Bamshad M, Jorde LB, Hammer MF (2005) Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders. Hum Biol 77(1):93–114
Kim SH, Kim NY, Kim KS, Kim JJ, Park JT, Chung KW, Han MS, Kim W (2009) Population genetics and mutational events at 6 Y-STRs in Korean population. Forensic Sci Int Genet 3:e53–e54
Kim SH, Kim KC, Shin DJ, Jin HJ, Kwak KD, Han MS, Song JM, Kim W, Kim W (2011) High frequencies of Y-chromosome haplogroup O2b-SRY465 lineages in Korea: a genetic perspective on the peopling of Korea. Investig Genet 2(1):10
Kwon SY, Lee HY, Kim EH, Lee EY, Shin KJ (2016) Investigation into the sequence structure of 23 Y chromosomal STR loci using massively parallel sequencing. Forensic Sci Int Genet 25:132–141
Nei M (1987) Molecular evolutionary genetics. Columbia University Press, New York
Scheinfeldt L, Friedlaender F, Friedlaender J, Latham K, Koki F, Karafet T, Hammer M, Lorenz J (2006) Unexpected NRY chromosome variation in Northern Island Melanesia. Mol Biol Evol 23(8):1628–1641
Tamura K, Stecher G, Peterson D, Filipski A, Kumar S (2013) MEGA6: molecular evolutionary genetics analysis version 6.0. Mol Biol Evol 30:2725–2729
Wen B, Xie X, Gao S, Li H, Shi H, Song X, Qian T, Xiao C, Jin J, Su B, Lu D, Chakraborty R, Jin L (2004) Analyses of genetic structure of Tibeto-Burman populations reveals sex-biased admixture in southern Tibeto-Burmans. Am J Hum Genet 74(5):856–865
Willuweit S, Roewer L (2007) International Forensic Y Chromosome User Group. Y chromosome haplotype reference database (YHRD): update. Forensic Sci Int Genet 1:83–87
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(4):2431–2439
Acknowledgements
This study was supported by the Korean Government and by Grant (NFS2017DNA02) from the Forensic Research Program of the National Forensic Service (NFS).
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
Kyu-Sik Jeong, Heejin Shin, Sung-Jin Lee, Hyo-Sook Kim, Jang-Yong Kim, Myun-Soo Han, Yang-Han Lee, Ki-Won Park, Byung-Won Chun declare that they have no conflict of interest.
Informed consent
All samples were used for this study in accordance with the policies and procedures approved by Institutional Review Board for National Forensic Service (NFSIRB).
Electronic supplementary material
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Jeong, KS., Shin, H., Lee, SJ. et al. Genetic characteristics of Y-chromosome short tandem repeat haplotypes from cigarette butt samples presumed to be smoked by North Korean men. Genes Genom 40, 819–824 (2018). https://doi.org/10.1007/s13258-018-0701-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s13258-018-0701-5