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Mutations in the D-LOOP Region of Mitochondrial DNA in Myelodysplastic Syndrome

Author: LinHuaWei
Tutor: CongYaQin
School: Shandong University
Course: Internal Medicine
Keywords: myelodysplastic syndrome mt DNA D-loop region mutation
CLC: R551.3
Type: Master's thesis
Year: 2006
Downloads: 57
Quote: 0
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Abstract


Objective Mitochondria is the only organelle that has genome of itself except nucleus. It can replicate, transcript and translate itself without nuclear genome, and generates cellular energy in the form of ATP (adenosine triphosphate) by the process of oxidative phosphorylation (OXPHOS). Human mitochondrial DNA (mtDNA) is a 16569bp double-stranded, closed-circular DNA molecule. Human mtDNA has a mutational rate that is at least 10 times higher than that of nuclear DNA. The D-loop region (16028 - 577bp) is a non-coding and high mutational region. In recent years, much attention has been turned to the role that the mutation of mtDNA plays in the tumorigenesis.This experiment is chiefly intended to investigate the mutations of mitochondrial DNA D-loop region in myelodysplastic syndrome patients, sum up the rules of these mutations, explore the possible mechanism and results of these mutations, and provide molecule biological theories for the diagnoses and therapy of myelodysplastic syndrome.Methods The bone marrow mononuclear cells (BMMNC) of 20 myelodysplastic syndrome patients were extracted by lymphocyte separatory liquor, and genomic DNA was extracted by phenol-chloroform. The D-loop region of 20 myelodysplastic syndrome patients was amplified by PCR. Primers were as follows: forward primer: 5’-ATCATTGGACAAGTAGCATC-3’(ntl5791-ntl5810); reverse primer: 5’-GGTGAACTCACTGGAACGGG-3’(nt725-nt706). The conditions for

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CLC: > Medicine, health > Internal Medicine > Blood and lymphatic system diseases > Hematopoietic diseases > Bone marrow disease
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