Figure 3

Homoplasmic and heteroplasmic mutations in mtDNA of AHM patients. This shows separate analyses of (A) homoplasmic and (B) heteroplasmic mutations in mtDNA of 13 AHM patients carrying the ITPA 94A variant allele, comprising MDS (closed circles) n=8, CLL (open triangles) n=4, and AML (open circles) n=1, compared with 4 patients homozygous for the ITPA 94C wildtype allele, comprising MDS n=2, CLL n=1 and AML n=1. Mutations were identified against the MitoChip standard mtDNA reference sequence (rCRS) and those belonging to the assigned mtDNA haplogroup of each patient excluded. The results are shown as means ± SEM (p = 0.068 for homoplasmic mutations, not significant; p < 0.035 for heteroplasmic mutations, Mann–Whitney two-tailed test).