Mitochondrial DNA sequence variation in human leukemic cells

The Long PCR followed by the RFLP technique has been used to search for abnormally structured mitochondrial DNA (mtDNA) and specific sequence differences implicated in the pathogenesis of acute lymphoblastic leukaemia (ALL). We have studied 54 specific sites whose combinations define groups of mtDNA types, in 30 leukemic patients of French Caucasian origin. Results were compared with those in 100 French heathy individuals. Nucleotide substitutions have been defined in 11 patients. This polymorphism is expressed by single base substitution at 6 sites which corresponds to 5 morphs, 2 of which were not found in the reference group. Combining the 11 observed morphs, we have identified 7 different mtDNA types, defined in 30 patients with ALL. Two of the morphs (MspI-2 and AvaII-3) and 3 of the types (17-2, 55-2, New^Fr150) were not found in the group of healthy individuals. We have observed significant statistical changes in type 28-2 in ALL patients compared with the controls. Int. J. Cancer 76:495–498, 1998.© 1998 Wiley-Liss, Inc.