Profiling of length heteroplasmies in the human mitochondrial DNA control regions from blood cells in the Korean population

被引：25
作者：
Shin, MG
Levin, BC
Kim, HJ
Kim, HR
Lee, IK
Cho, D
Kee, SJ
Shin, JH
Suh, SP
Ryang, DW
机构：
[1] Chonnam Natl Univ, Dept Lab Med, Sch Med, Hwasuneup 519809, Jeollanam Do, South Korea
[2] Chonnam Natl Univ, Hwasun Hosp, Hwasun, South Korea
[3] Natl Inst Stand & Technol, Div Biotechnol, Chem Sci & Technol Lab, Gaithersburg, MD USA
[4] Chonnam Natl Univ, Genome Res Ctr Hematopoiet Dis, Sch Med, Hwasun, South Korea
来源：
ELECTROPHORESIS | 2006年 / 27卷 / 07期
关键词：
blood cells; Korean population; length heteroplasmy; mtDNA;
D O I：
10.1002/elps.200500551
中图分类号：
Q5 [生物化学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：1331 / 1340
页数：10
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