Genetic relationship between Korean and Mongolian populations based on the Y chromosome DNA variation

We analyzed seven Y chromosome binary markers (YAP, RPS4Y711, M9, M175, LINE1, SRY+465 and 47z) in samples from a total of 254 males from Koreans and two Mongolian ethnic groups (Buryat and Khalkh) to study the genetic relationship among these populations. We found eight distinct Y haplogroups constructed from the seven binary markers. Haplogroup DE‐YAP was present at extremely low frequencies (∼2%) in the Korean and Mongolian populations. This result is consistent with earlier reports that showed the YAP+ chromosomes to be highly polymorphic only in populations from Japan and Tibet in east Asia. The observed high frequency of haplogroup C‐RPS4Y711 in the Mongolian populations (∼40%) is concordant with recent findings, showing that the RPS4Y711‐T chromosomes were distributed at high frequencies in Siberian and Mongolian populations compared with most other populations from east Asia. Thus, the relatively moderate frequency of haplogroup C‐RPS4Y711 in Koreans (∼15%) can be seen as genetic evidence for probable interaction with Mongolian and/or Siberian populations. In contrast, the majority (∼75%) of modern Koreans studied here had high frequencies of Y chromosome lineages of haplogroup O‐M175 and additional haplogroups that define sublineage of O‐M175, which are most likely related with modern populations in China. In conclusion, our data on the Y chromosome haplogroup distribution may provide evidence for interaction between Korean and Mongolian populations, but Koreans tend to be much more related with those from southern‐to‐northern populations of China than to Mongolians in east Asia.