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Distribution of the 9-bp deletion in COII/tRNALys intergenic region of mitochondrial DNA is relatively homogeneous in East Asian populations

Animal Cells and Systems 1998년 2권 2호 p.259 ~ 267
홍성수, Horai Satoshi, 이정주,
소속 상세정보
홍성수 ( Hong Sung-Soo ) - Seoul National University Department of Biology
 ( Horai Satoshi ) - Seoul National University Department of Molecular Biology
이정주 ( Lee Chung-Choo ) - Seoul National University Department of Biology

Abstract


A deletion of one out of the two copies of 9?bp repeat sequence (CCCCCT?CTA) between the cytochrome oxidase II and lysine tranfer RNA (COII/ tRNALys) 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/tRNALys 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 homogeneous with regard to the 9?bp deletion type of the intergenic COII/tRNALys 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/tRNALys region will provide significant information to elucidate the historical patterns of migration of the Mongoloids

키워드

Mitochondrial DNA; Intergenic COII/tRNALys region; 9-bp deletion; Korean population; Polymerase chain reaction; Geographic cline; Mongoloids

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