Figure 5.

p53 mutations or absent p53 mRNA expression in AML is associated with frequent copy-neutral LOH (acquired uniparental disomy) at 17p/p53 locus. Files generated through use of the Affymetrix program Genotyping Console for all patients were imported into the LOH tool, Version 2, using our software tool Pre-LOH Unification Tool, and all individual positions of LOH between buccal DNA and paired tumor DNA were graphed as a blue tick mark across the length of the chromosomes. Copy number estimates for all SNP positions for all patients were generated through dChipSNP, as described, and displayed across the length of the chromosomes. Copy losses are displayed with blue colors, copy gains with red colors. (A-B) Heatmap display of chromosomal copy number changes at 17p based on SNP 6.0 array profiling. Blue represents copy loss; and red, copy gain. (A) Buccal DNA. (B) AML blast DNA. (C) LOH analysis at 17p comparing paired blast and buccal DNA. Red numbering indicates copy-neutral LOH (acquired uniparental disomy); and black, LOH with copy loss. (D) p53 exon 5 to 9 mutation analysis results. (E) Normalized p53 mRNA expression in AML blasts grouped by MI219 IC₅₀ values as indicated. Red diamonds represent AML blasts with mutated p53.