Figure 3. MSX1 mutation and sequence. (A) Lanes 3 and 4 show the band shift indicating SSCPs in the two initially identified siblings. Lanes 1, 2, 5, and 6 show unrelated individuals. (B) MSX1 sequence of unaffected individual; arrow indicates nucleotide 620, which matches published sequence (Hewitt et al., 1991). (C) MSX1 sequence of an affected heterozygous individual, with arrow indicating location of overlapping A and T peaks. (D) MSX1 sequence of DNA isolated from band shift. Arrows indicate mutated nucleotide.
