title: Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy.
abstract: The mitochondrial DNA HV3 region contains CA dinucleotide repeats which display length polymorphism. To analyze this for forensic purposes, we designed a fluorescence-labelled PCR primer set for short amplification products and carried out genotyping by using capillary electrophoresis. A total of 4 alleles with 4-7 repeat units were observed and the genetic diversity was estimated to be 0.5120 in 500 unrelated Koreans. Interestingly, three individuals showed two or three length variants, i.e. length heteroplasmy.
authors.affiliation: Department of Forensic Medicine and Brain Korea 21 Project for Medical Science, College of Medicine Yonsei University, 134 Shinchon-Dong Seodaemun-Gu, 120-752 Seoul, Korea.
authors.forename: Ukhee
authors.initials: U
authors.lastname: Chung
authors.forename: Hwan Young
authors.initials: HY
authors.lastname: Lee
authors.forename: Ji-Eun
authors.initials: JE
authors.lastname: Yoo
authors.forename: Myung Jin
authors.initials: MJ
authors.lastname: Park
authors.forename: Kyoung-Jin
authors.initials: KJ
authors.lastname: Shin
mesh_terms: D044466:Asian People / Q000235:genetics*; D022801:Complementarity Determining Regions; D016172:DNA Fingerprinting / Q000379:methods*; D017931:DNA Primers; D004272:DNA, Mitochondrial / Q000235:genetics*; D018900:Dinucleotide Repeats; D005787:Gene Frequency; D014644:Genetic Variation; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D007723:Korea; D016133:Polymerase Chain Reaction / Q000379:methods; D017422:Sequence Analysis, DNA
chemical_list: D022801:Complementarity Determining Regions; D017931:DNA Primers; D004272:DNA, Mitochondrial