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KMID : 0191120080230061062
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Journal of Korean Medical Science
2008 Volume.23 No. 6 p.1062 ~ p.1067
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Mitochondrial DNA Aberrations of Bone Marrow Cells from Patients with Aplastic Anemia
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Kim Hye-Ran
Kim Hyeoung-Joon
Shin Myung-Geun
Shin Jong-Hee
Suh Soon-Pal
Ryang Dong-Wook
Kim Mi-Ji
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Abstract
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This study was undertaken primarily to test the hypothesis that mitochondrial DNA (mtDNA) mutations may be associated with aplastic anemia. Complete mtDNA nucleotide sequence was analyzed in nine and eight bone marrow specimens from Korean patients with aplastic anemia and healthy individuals, respectively. We found a large number of polymorphisms as well as apparent new mutations in both patients and controls throughout the entire mtDNA genome; 12 mutations harbored amino acid changes in patients and none of the mutations in controls produced amino acid changes. There were heteroplasmic mutations and more nonsynonymous mtDNA changes observed in patients, so the mean number of mtDNA aberrations of bone marrow cells showed statistically significant difference overall between patients (mean=25.6) and controls (mean=12.8) (p=0.019). Our data may support an association of mtDNA aberrations with aplastic anemia.
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KEYWORD
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Anemia, Aplastic, DNA, Mitochondrial, Mutation
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