Pedigree of 3-generation family with FPD/AML and sequence analysis of D198Y missense mutation.

(A) Pedigree (na, not analyzed). (B) Detection by sequence analysis of a mutation in exon 5 of CBFA2 using second-generation family members II:1 (nonaffected), II:4 (affected), and II:7 (affected). Arrows indicate the position of the mutation. Genomic and encoded amino acid sequences are depicted. Affected nucleotide and amino acid are underlined.