Figure 3.

The figure shows electropherograms and the cDNA sequence of the proband (3:1) (A), the proband's cousin (3:3) (B), the proband's mother (2:3) (C), and a representative, unrelated control (D). The reverse DNA strand is shown, such that G is the wild-type allele and C is the nonsense allele. Variable amounts of the C allele are present in the affected women but not in the controls.