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Lookup NU author(s): Anna Lewall,
Dr Liewi Luo,
Professor Stephen Proctor,
Dr Peter Middleton,
Professor Robert Taylor,
Emeritus Professor Doug Turnbull
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Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myslodysplastic syndromes, a heterogeneous group of haematological disorders with an increased risk of malignant transformation. We therefore investigated the incidence of somatic mitochondrial DNA (mtDNA) mutations in patients with adult-onset leukaemia. We sequenced the entire mitochondrial genome from both normal tissue (buccal epithelial cells) and the leukaemia from 24 patients with adult-onset leukaemia. Somatic mtDNA mutation was present in nine individuals (≈40%) and in each case the tumour genome differed from the normal genome sequence by a single sequence change. Using PCR-RFLP analysis and real-time PCR, we have studied in detail the mutation present in one patient with acute lymphatic leukaemia, demonstrating that the mutation is associated specifically with the leukaemia.
Author(s): He, L., Luo, L., Proctor, S. J., Middleton, P. G., Blakely, E. L., Taylor, R. W., Turnbull, D. M.
Publication type: Article
Publication status: Published
Print publication date: 01/12/2003
ISSN (print): 0887-6924
ISSN (electronic): 1476-5551
PubMed id: 14523470
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