Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy

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Authors: Ukhee Chung ; Hwan Young Lee ; Ji-Eun Yoo ; Myung Jin Park ; Kyoung-Jin Shin

MeSH: Asian Continental Ancestry Group/genetics* ; Complementarity Determining Regions ; DNA Fingerprinting/methods* ; DNA Primers ; DNA, Mitochondrial/genetics* ; Dinucleotide Repeats* ; Gene Frequency ; Genetic Variation ; Genetics, Population* ; Genotype ; Humans ; Korea ; Polymerase Chain Reaction/methods ; Sequence Analysis, DNA

Keywords: Mitochondrial DNA ; CA dinucleotide repeats ; Length polymorphism ; Length heteroplasmy ; Koreans

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.

Appears in Collections:: 1. College of Medicine (의과대학) > Dept. of Forensic Medicine (법의학과) > 1. Journal Papers

Yonsei Authors: Shin, Kyoung Jin(신경진) https://orcid.org/0000-0002-1059-9665
Chung, Uk Hee(정욱희)

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