Inosine Triphosphate Pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects

Table 4 Transitions and transversions among homoplasmic and heteroplasmic mtDNA mutations in AHM patients

ITPA	Total	Transitions		Transversions
genotype	mutations	A>G/T>C	G>A/C>T
4 homozygous 94C wildtypes:
Homoplasmic	38	82%	18%	0
Heteroplasmic	11	9%	9%	82%
Total	49	65%	16%	19%
13 carrier 94A mutants:
Homoplasmic	329	66%	32%	2%
Heteroplasmic	92	33%	8%	59%
Total	421	59%	27%	14%

Mutations shown as total numbers and percent of total, in 13 patients carrying the ITPA 94A variant allele compared with 4 patients homozygous for the ITPA 94C wildtype allele. ITPA 94A produced 12 unique point mutations; 7 insertions were also identified.

ISSN: 1756-8722