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KMID : 1161519990030040393
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Animal Cells and Systems
1999 Volume.3 No. 4 p.393 ~ p.397
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Distribution of length variation of the mtDNA 9-bp motif in the intergenic COII/tRNALys region in East Asian populations
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Jin Han-Jun
Choi Jeon-Won
Shin Dong-Jik
Kim Jung-Min
Kim Wook
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Abstract
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Length variations in human mitochondrial DNA (mtDNA) offer useful markers in the study of female aspects of human population history. One such length variation is a 9?bp deletion in the small noncoding segment located between the COII and lysine tRNA genes (COII/tRNALys intergenic region) which usually contain two tandemly arranged copies of a 9?bp sequence (cccctcta) in human mtDNA. The mtDNA 9?bp deletion and polymorphic variants of expanded 9?bp repeat motif in the intergenic COII/RNALys region have been found at varying frequencies among different human ethnic groups. We have examined the length variation of the mtDNA COII/tRNALys intergenic region from a total of 813 individuals in east Asian populations. The occurrence of the 9?bp deletion was found to be relatively homogeneous in northeast Asian populations (Chinese, 14.2%; Japanese, 14.3%; Koreans, 15.5%), with the exception of Mongolians (5.1%). In contrast, Indonesians (25.0%) and Vietnamese (23.2%) of the southeast Asian populations appeared to have relatively high frequencies of the 9?bp deletion. We identified the existence of a new expanded 9?bp repeat motif which likely resulted from a slipped mispairing insertion of six more cytosines in the intergenic COII/tRNALys region. It was present at low frequencies in the Korean (2/349) and Japanese populations (2/147). Based on the results of this study, the Korean population may reflect a close genetic affinity with the Japanese and Chinese populations than the others surveyed east Asian populations.
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KEYWORD
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Korean mtDNA, 9-bp deletion, Expanded variant, East asians
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