title: Population and forensic genetic analyses of mitochondrial DNA control region variation from six major provinces in the Korean population.
abstract: We generated complete mitochondrial DNA (mtDNA) control region sequences from 704 unrelated individuals residing in six major provinces in Korea. In addition to our earlier survey of the distribution of mtDNA haplogroup variation, a total of 560 different haplotypes characterized by 271 polymorphic sites were identified, of which 473 haplotypes were unique. The gene diversity and random match probability were 0.9989 and 0.0025, respectively. According to the pairwise comparison of the 704 control region sequences, the mean number of pairwise differences between individuals was 13.47±6.06. Based on the result of mtDNA control region sequences, pairwise FST genetic distances revealed genetic homogeneity of the Korean provinces on a peninsular level, except in samples from Jeju Island. This result indicates there may be a need to formulate a local mtDNA database for Jeju Island, to avoid bias in forensic parameter estimates caused by genetic heterogeneity of the population. Thus, the present data may help not only in personal identification but also in determining maternal lineages to provide an expanded and reliable Korean mtDNA database. These data will be available on the EMPOP database via accession number EMP00661.
authors.affiliation: Department of Biological Sciences, Dankook University, Cheonan 330-714, Republic of Korea; Forensic DNA Division, National Forensic Service, Wonju 220-170, Republic of Korea.
authors.forename: Seung Beom
authors.initials: SB
authors.lastname: Hong
authors.affiliation: Department of Biological Sciences, Dankook University, Cheonan 330-714, Republic of Korea.
authors.forename: Ki Cheol
authors.initials: KC
authors.lastname: Kim
authors.affiliation: Department of Biological Sciences, Dankook University, Cheonan 330-714, Republic of Korea. Electronic address: wookkim@dankook.ac.kr.
authors.forename: Wook
authors.initials: W
authors.lastname: Kim
mesh_terms: D044466:Asian People / Q000235:genetics; D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics*; D030541:Databases, Genetic; D005006:Ethnicity / Q000235:genetics; D053803:Forensic Genetics / Q000379:methods; D014644:Genetic Variation; D005828:Genetics, Population / Q000379:methods; D006239:Haplotypes; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic / Q000187:drug effects; D056910:Republic of Korea
chemical_list: D004272:DNA, Mitochondrial
keywords: Control region; Database; Forensic parameters; Koreans; MtDNA; Population structure