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Genes & Genomics

, Volume 36, Issue 5, pp 583–590 | Cite as

Mitochondrial DNA haplogroups and homogeneity in the Korean population

  • Seung Beom Hong
  • Ki Cheol Kim
  • Wook Kim
Research Article

Abstract

Mitochondrial DNA (mtDNA) haplogroup data provide valuable information for inferring patterns of variation and population structure of maternal lineages. In this study, we analyzed the distribution of mtDNA haplogroup variation using a 20-plex SNaPshot assay for determination of the major East Asian haplogroups to evaluate the possible genetic structure and differentiation from 708 unrelated individuals residing in six major provinces in Korea. The most common mtDNA haplogroups were found to be D4 and B4, followed by A, D4a, and M7, which are prevalent in East Asian populations. All provinces exhibited high haplogroup diversities, ranging from 0.8957 in Jeju Island to 0.9284 in Gyeongsang. Pair-wise F ST distances and AMOVA of the studied Korean provinces reflected no maternal subpopulation heterogeneity present within the population group, except for Jeju Island, showing small, but statistically significant differences between the populations (p < 0.01). This result indicates that the Jeju Island may point to the need for creating a local mtDNA database, to avoid bias in forensic parameters estimates caused by genetic heterogeneity of the population. However, since there is no geographic pattern to suggest this result represents any population heterogeneity on a peninsular level in Korea, the present data could be useful in serving as a basis for comprehensive Korean population and forensic mtDNA database.

Keywords

mtDNA haplogroups Population genetics Population structure Forensic DNA database Koreans 

Notes

Acknowledgments

The authors would like to thank all the volunteers for providing DNA samples. They also thank S.S. Hong and S.G. Lee for technical assistance to this survey. The present research was supported by the research fund of Dankook University in 2012.

Conflict of interest

The authors declare no conflict of interest.

Supplementary material

13258_2014_194_MOESM1_ESM.pdf (96 kb)
Supplementary material 1 (PDF 95 kb)
13258_2014_194_MOESM2_ESM.pdf (76 kb)
Supplementary material 2 (PDF 76 kb)

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Copyright information

© The Genetics Society of Korea and Springer-Science and Media 2014

Authors and Affiliations

  1. 1.Department of Biological SciencesDankook UniversityCheonanKorea
  2. 2.Forensic DNA DivisionNational Forensic ServiceWonjuKorea

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