title: Profiling of length heteroplasmies in the human mitochondrial DNA control regions from blood cells in the Korean population.
abstract: 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.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, South Korea. mgshin@chonnam.ac.kr
authors.forename: Myung-Geun
authors.initials: MG
authors.lastname: Shin
authors.forename: Barbara C
authors.initials: BC
authors.lastname: Levin
authors.forename: Hyeoung-Joon
authors.initials: HJ
authors.lastname: Kim
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Kim
authors.forename: Il-Kwon
authors.initials: IK
authors.lastname: Lee
authors.forename: Duck
authors.initials: D
authors.lastname: Cho
authors.forename: Seung Jung
authors.initials: SJ
authors.lastname: Kee
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Shin
authors.forename: Soon-Pal
authors.initials: SP
authors.lastname: Suh
authors.forename: Dong-Wook
authors.initials: DW
authors.lastname: Ryang
mesh_terms: D000293:Adolescent; D000328:Adult; D001773:Blood Cells / Q000737:chemistry; D002648:Child; D002675:Child, Preschool; D045303:Cytochromes b / Q000235:genetics; D004261:DNA Replication / Q000235:genetics; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007723:Korea; D008297:Male; D008875:Middle Aged; D009245:NADH Dehydrogenase / Q000235:genetics; D011066:Poly C / Q000235:genetics*; D011110:Polymorphism, Genetic; D012356:RNA, Transfer, Leu / Q000235:genetics; D017422:Sequence Analysis, DNA
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu; D011066:Poly C; D045303:Cytochromes b; D009245:NADH Dehydrogenase