Sequence variation of mitochondrial DNA control region in Koreans.

The sequencing data for two mtDNA segments in control region I and II, 385 and 341 nucleotides long, respectively, for 306 unrelated Koreans are presented. In regions I and II, 139 and 58 polymorphic sites, respectively, were noted. These were distributed evenly along the control region, though the frequency of each site was variable. Nucleotide substitution rather than insertion/deletion was the prevalent pattern of variation. A total of 265 different mtDNA lineages in region I and 154 in region II were revealed. This result represents a substantial level of polymorphism in a defined population, and presents the possibility that mtDNA polymorphism could be used as an individual identification marker, especially when nuclear DNA is not available. In view of the complex pattern of variation, meticulous test-sequencing is thought to be more appropriate than RFLP analysis using restriction endonuclease or hybridization using an SSO probe. Racial differences with genealogical usage are also described.