Figure 2From: Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defectsTotal homoplasmic and heteroplasmic mutations in mtDNA of AHM patients. 13 AHM patients carrying the ITPA 94A variant allele (i.e. ITPA+/−) comprised MDS (closed circles) n=8, CLL (open triangles) n=4, AML (open circles) n=1. These were compared with 4 patients homozygous for the ITPA 94C wildtype allele (i.e. ITPA+/+), 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 < 0.009, Mann–Whitney two-tailed test).Back to article page