Mitochondrial DNA CA dinucleotide repeats in Koreans: the presence of length heteroplasmy.
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.
Chung
Ukhee
U
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.
Lee
Hwan Young
HY
Yoo
Ji-Eun
JE
Park
Myung Jin
MJ
Shin
Kyoung-Jin
KJ
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
D022801:Complementarity Determining Regions; D017931:DNA Primers; D004272:DNA, Mitochondrial