Phylogenetic analysis of two haploid markers of 500-years-old human remains found in a central region of Korea

To understand the genetic history of maternal/paternal lineages of Koreans, we analyzed two haploid markers, mitochondrial DNA (mtDNA), and Y-chromosomal variations, in 25 human remains (dated at about 400–600 years old) excavated from a central region of Korea (Yangchon cemetery of Gimpo-si, Gyeonggi-do). MtDNA control region (HVS-I/II) sequences of 19 ancient human samples from a total of 25 remains were successfully determined by sequencing after PCR-cloning and direct sequencing techniques. Among the 25 remains, 12 individuals were found to be males determined by the amelogenin locus using PCR amplification. We found that the vicinal burial of the remains seemed to be related matrilineally or patrilineally. The most common mtDNA haplogroups were found to be D4a (5/19), followed by D4 (3/19), F1bde (3/19), D4c (2/19), D4g2a (1/19), B5b (1/19), F (1/19), F1a1 (1/19), G4 (1/19), and N9a (1/19), which are prevalent in the Northeast and Southeast Asians, including modern Koreans. On the paternal side, there are three dominant Y chromosome haplogroups C (41.7 %), O3 (25 %), and Y* (33.3 %) in total male samples. The phylogenetic analysis of the mtDNA HVS-I sequence variation revealed both the overall similarity to other northeastern populations, and also a larger genetic contribution from southeastern populations. Thus, these results are consistent with previous reports that the peopling of Korea is likely to have involved multiple sources. Larger sample sizes and additional genetic markers will be necessary to fully understand the population structure and the genetic history of the Koreans.