Fig. 1. AML cell-specific mtDNA sequence alteration. The mtDNA mutations were only identified in AML cells (CD34⁺ and CD33⁺ cells) and not in corresponding non-AML cells (CD2⁺ and CD3⁺ cells) from the same pediatric AML patient. (A, B) Sequence chromatogram of mtDNA hypervariable (HV) region 1 from non-AML cells and AML cells of the same patients showed the existence of an AML cell-specific mtDNA substitution mutation. (C, D) Electropherogram identified a length heteroplasmic mutation in the 303 poly C minisatellite in HV2 (nucleotide 303-315) in non-AML cells and in corresponding AML cells from the same patient.

Abbreviation: mtDNA, mitochondrial DNA.