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Table 5 Mean of N-calls in mtDNA of AHM patients

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

mtDNA N-calls

Patients carrying

 

Patients homozygous for

 

(MitoChip v.2.0)

ITPA 94A variant allele (n=13)

 

ITPA 94C wildtype allele (n=4)

 
 

GSEQ

sPROFILER

 

GSEQ

sPROFILER

 

rCRS

588

264

p<0.0001

532

234

p<0.05

Additional tiling

6406

4147

p<0.0001

6346

4075

p<0.05

  1. mtDNA from 13 patients carrying the ITPA 94A variant allele compared with 4 patients homozygous for the ITPA 94C wildtype allele. Unique mutations were identified on the MitoChip v.2.0, and are analysed as those identified by the rCRS section of the microarray vs. the additional tiling section for common haplotypes. N-calls were analysed using proprietary GSEQ then sPROFILER software; p values calculated using Mann–Whitney test comparing total N-calls obtained from GSEQ and sPROFILER software.