Pedigrees for the 5 FPD/AML families and their corresponding DNA sequencing traces for the mutated RUNX1 gene and the corresponding wild-type sequence. Within the pedigrees, squares represent males; circles, females; black boxes, confirmed RUNX1 mutations; dark gray boxes, history of MDS/AML; pale gray boxes, history of thrombocytopenia; unfilled boxes, unaffected patients. (A,B) Sequence traces representing the sequence analysis of the cloned mutated allele. (C-E) Direct from patient genomic DNA. (A) 7-bp deletion in exon 8; (B) 1-bp insertion in exon 3; (C) C→G missense mutation in exon 4; (D) splice donor site mutation in intron 3; (E) C→T nonsense mutation. The nucleotide numbers are relative to the start codon ATG defined as + 1 of the AML1b transcript (blast accession no. L34598) as previously reported.²³