Figure 1.

Genetic analysis of family with inherited myelodysplastic syndrome/acute myeloid leukemia. (A) Family pedigree is consistent with an autosomal dominant mode of inheritance. Filled circles/boxes denote affected family members, while slashes denote deceased individuals. A black arrow denotes the proband. (B) Representative chromatograms from Sanger sequencing of family members. The affected nucleotides are indicated with black arrows. (C) Analysis of the tumor sample of subject II-1 shows evidence of a p.R525H mutation both by Sanger (right panel) and pyrosequencing (center panel). Pyrosequencing of genomic DNA shows only the reference allele (left panel). Note that the sequencing primer for pyrosequencing aligns to the reverse complement sequence.