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Profiling of length heteroplasmies in the human mitochondrial DNA control regions from blood cells in the Korean population
Author(s) -
Shin MyungGeun,
Levin Barbara C.,
Kim HyeoungJoon,
Kim HyeRan,
Lee IlKwon,
Cho Duck,
Jung Kee Seung,
Shin JongHee,
Suh SoonPal,
Ryang DongWook
Publication year - 2006
Publication title -
electrophoresis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.666
H-Index - 158
eISSN - 1522-2683
pISSN - 0173-0835
DOI - 10.1002/elps.200500551
Subject(s) - mitochondrial dna , biology , profiling (computer programming) , mtdna control region , dna profiling , dna , human blood , population , computational biology , genetics , microbiology and biotechnology , gene , physiology , medicine , genotype , computer science , haplotype , environmental health , operating system
The length heteroplasmies in the hypervariable (HV) regions of mitochondrial DNA (mtDNA) from blood cells were examined in 57 healthy Korean donors. Interestingly, all the healthy Korean subjects displayed length heteroplasmies in both the HV1 and HV2 regions. Closer examination of the HV2 length heteroplasmies indicated that most of these donors (84%) exhibited a minimal 303–315 homopolymeric C (poly‐C) tract frameshift of 1 bp (mixture of one major and minor mtDNA type). Sixteen percent of the donors however had poly‐C tract frameshifts of 2 bp or more. The donor group with major length variants (two or more frameshifts) had about a two‐fold decrease in mtDNA copy number compared with the group exhibiting only a 1 bp frameshift. This result supports the possibility that a severe frameshift in the 303–315 poly‐C tract may also cause the impairment of mtDNA replication in hematopoietic tissue.