Animal cells and systems

The Korean Society for Integrative Biology (한국통합생물학회)
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Distribution of the 9-bp Deletion in Coll/$tRNA^{Lys}$ Intergenic Region of Mitochondrial DNA is Relatively Homogeneous in East Asian Populations

  • Hong, Seong-Su (Department of Biology and Deparment of Molecular Biology, Research Center for Cell Differentiation, Seoul National University) ;
  • Horai, Satoshi (Department of Human Genetics, National Institute of Genetics) ;
  • Lee, Chung-Choo (Department of Biology and Deparment of Molecular Biology, Research Center for Cell Differentiation, Seoul National University)
  • Published : 1998.06.01
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Abstract

A deletion of one out of the two copies of 9-bp repeat sequence (CCCCCTCTA), between the cytochrome oxidase II and Iysine tranfer RNA (COII/$tRNA^{Lys}$) genes in human mitochondrial DNA (mtDNA) has been used as a polymorphic anthropological marker for people of east Asian origin, and to lesser extent, Pacific and African populations. We searched for the 9-bp deletion of the intergenic COII/$tRNA^{Lys}$ Lys region in two Korean populations (175 from Seoul and 38 from Cheju) and examine the distibution of this deletion in world populations. The 9-bp deletion was detected directly by electrophoresis of the polymerase chain reaction (PCR)-amplified nucleotide(nt) 8211-8310 mtDNA fragment. The frequencies of the 9-bp deletion were significantly different between the Seoul (16%) and Cheju (8%) populations. Examination of data from the world populations suggests a geographic gradient. The frequency reaches its highest values in some Pacific island populations and decreases along the southeast Asia-Siberia transect. In spite of this geographic gradient, Mongoloid populations including Korean, Chinese, Japanese, and Mongolian populations were relatively homo-geneous with regard to the 9-bp deletion type of the intergenic COII/$tRNA^{Lys}$ region. These results indicate Koreans are genetically related to northeast Asian populations, and have a maternal mongoloid ancestry. Therefore, the 9-bp deletion of the intergenic COII/$tRNA^{Lys}$ region will provide significant information to elucidate the historical patterns of migration of the Mongoloids.

Keywords

References

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