A Rare Mitochondrial DNA Haplotype Observed in Koreans

Document Type

Article

Authors

Niina Snäll, Department of Biology, Laboratory of Genetics, University of Turku, Turku, Finland.
Marja-liisa Savontaus, Department of Biology, Laboratory of Genetics, University of Turku, Turku, Finland., Department of Medical Genetics, University of Turku, Turku, Finland.
Saara Kares, Department of Biology, Laboratory of Genetics, University of Turku, Turku, Finland.
Myung Sik Lee, Department of Neurology, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea
Eun Kyung Cho, Department of Neurology, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea
Juha O. Rinne, Turku PET Centre, University of Turku, Turku, Finland
Kirsi Huoponen, Department of Biology, Laboratory of Genetics, University of Turku, Turku, Finland., Department of Medical Genetics, University of Turku, Turku, Finland.

Abstract

The haplogroup affiliations of Korean mitochondrial DNAs (mtDNAs) were determined by restriction analysis. Out of the 101 mtDNAs analyzed, 91 (90%) belonged to Asian-specific haplogroups M, C, D, G, A, B, and F. Haplogroup E was not detected among the Korean mtDNAs. Three mtDNAs represented an unusual mtDNA haplotype characterized by simultaneous presence of E and G haplogroup-specific polymorphisms. To characterize this haplotype in more detail, we sequenced the hypervariable segment I (HVSI) from these mtDNAs as well as from those from selected individuals representing each haplogroup. Sequence data were further used to compare Korean mtDNAs with mtDNAs from other Asian populations. The observed rare haplotype was also found among Japanese, which suggests that it is one of the ancestral lineages originally peopling Japan.

Recommended Citation

Snäll, Niina; Savontaus, Marja-liisa; Kares, Saara; Lee, Myung Sik; Cho, Eun Kyung; Rinne, Juha O.; and Huoponen, Kirsi (2002) "A Rare Mitochondrial DNA Haplotype Observed in Koreans," Human Biology: Vol. 74: Iss. 2, Article 7.
Available at: https://digitalcommons.wayne.edu/humbiol/vol74/iss2/7