Figure 2.

TP53 Germline Allele dropout in an LFS family due to annealing region SNP: (A) Homozygous deletion in two sarcoma affected siblings. Mother unaffected and WT. Father who died of cancer was not tested. ADO of WT allele suspected and SNP (rs12951053) detected in the reverse primer (P1R) binding region. Chromatogram of the SNP is shown. The mutant allele is in the trans to the T allele of IVS7 + 92 T > G polymorphism and cis to the G allele.(B) Resequencing with redesigned primers (P2F and P2R) avoiding the SNP region confirmed ADO and detected heterozygous deletion mutation in the two siblings.