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Somatic mitochondrial DNA mutations in adult-onset leukaemia.

Abstract：

:Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myelodysplastic 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 ( approximately 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.

journal_name

Leukemia

journal_title

Leukemia

authors

He L,Luo L,Proctor SJ,Middleton PG,Blakely EL,Taylor RW,Turnbull DM

doi

10.1038/sj.leu.2403146

subject

Has Abstract

pub_date

2003-12-01 00:00:00

pages

2487-91

issue

12

eissn

0887-6924

issn

1476-5551

pii

2403146

journal_volume

17

pub_type

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