JOURNAL OF SHANDONG UNIVERSITY (HEALTH SCIENCES)

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The D-loop region of mitochondrial DNA in myelodysplastic syndromes

JIN Hong1, CONG Ya-qin1，　HU Xiao-jing1, JIANG Yu-jie2   

  1. 1. Department of Hematology, Qilu Hospital of Shandong University, Jinan 250012, China;2. Department of Hematology, Shandong Provincial Hospital, Jinan 250021, China
  • Received:2007-11-22 Revised:1900-01-01 Online:2008-05-16 Published:2008-05-16
  • Contact: JIN Hong

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Abstract: To investigate mitochondrial DNA mutation in myelodysplastic syndromes. MethodsThe mtDNA of 42 patients with myelodysplastic syndromes was extracted from both bone marrow and buccal epithelial cells. Hypervariable regions (HV1 and HV2)in the D-loop of the mtDNA were amplified by PCR, and then were sequenced. ResultsNineteen mutations in the D-loop region were found in 6(14.29%) MDS cases. Five micro-satellites were unstable, and the others were point mutations. ConclusionMutations in the D-loop region of mitochondrial DNA were found in MDS patients and they might play an important role in the pathogenesis of myelodysplastic syndromes.

Key words: Myelodysplastic syndromes, DNA, mitochondrial, Mutation, Polymorphism

CLC Number: 

  • R551.3
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