MITOCHONDRIAL-DNA SEQUENCE VARIATION IN HUMAN LEUKEMIC-CELLS

The Long PCR followed by the RFLP technique has been used to search fo r abnormally structured mitochondrial UNA (mtDNA) and specific sequenc e differences implicated in the pathogenesis of acute lymphoblastic le ukaemia (ALL), We have studied 54 specific sites whose combinations de fine groups of mtDNA types, in 30 leukemic patients of French Caucasia n origin. Results were compared with those in 100 French heathy indivi duals. Nucleotide substitutions have been defined in II patients. This polymorphism is expressed by single base substitution at 6 sites whic h corresponds to 5 morphs, 2 of which were not found in the reference group. Combining the II observed morphs, we have identified 7 differen t mtDNA types, defined in 30 patients with ALL. Two of the morphs (Msp I-2 and AvaII-3) and 3 of the types (17-2, 55-2, New(Fr)150) were not found in the group of healthy individuals. We have observed significan t statistical changes in type 28-2 in ALL patients compared with the c ontrols. (C) 1998 Wiley-Liss, Inc.