Distribution of the 9‐bp deletion in COII/tRNALysintergenic region of mitochondrial DNA is relatively homogeneous in East Asian populations

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/) 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/ 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/ 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/ region will provide significant information to elucidate the historical patterns of migration of the Mongoloids.