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. 2012 May 2;7(5):e35897. doi: 10.1371/journal.pone.0035897

Figure 4. A conserved haplotype around the TP53 founder mutation in childhood adrenocortical tumors.

Figure 4

The IBD score calculated along chromosome 17 for the set of 13 childhood adrenocortical tumors (ACT) displays a significant peak at 17p13.1 (A). The sharp increases in the IBD score curve correspond to the boundaries of IBD segments in each pair of tumors. The peak region is represented in detail in panel B, with the haplotypes of the 13 chromosome copies retained in the tumors (harboring the mutant TP53 allele), and the haplotypes of the chromosome copies lost by LOH (harboring a wild-type TP53 allele) reconstructed for the six patients with matched normal blood samples. The haplotypes of wild-type alleles are all different, demonstrating the existence of different haplotypes for this genomic region in the population analyzed. By contrast, a haplotype common to all mutant alleles spans 470 kb upstream and 32 kb downstream from TP53 (represented by a thick red line). This conserved haplotype corresponds to the chromosome fragment harboring the R337H TP53 mutation inherited from the ancestral founder.