Figure 1.

Mutation analysis in PPND and other FTDP-17 syndromes. Pedigree and mutation analyses for three kindreds are shown. Direct DNA sequence (A) or restriction endonuclease cleavage analyses (B and C) are shown for three mutations. A shows the analysis for the PPND kindred with a ^Asn279^Lys mutation. B shows the ^Pro301^Leu mutation segregating in the Montreal family. C shows the segregation of the intronic mutation in the DDPAC family. The affected DNA sequence is shown below each panel. The underlined sequence is the recognition sequence for a restriction endonuclease. The potential exon-splicing-enhancer sequence is enclosed in boxes in A. Sexes have been hidden, and birth orders have been modified to maintain patient confidentiality. Individuals with shaded symbols are younger than the average age of onset in Table 1.