Figure 2

Left panel, SCCP of the proband and parents of CVE10 PCR was performed with the reaction mixture supplemented with [α³²P]-dCTP. Aliquots of the product were run in acrylamide gels (see Methods) and revealed by auto-radiography. Right panel, chromatogram of the 1902InsA. Traces of the sense (upper) and antisense (lower) DNA strands of the proband. The wild type and mutated nucleotide sequences and the aminoacid change are indicated over the sense strand. The sequence shows the site of the 1902insA mutation (see arrow) and the frameshift. The ambiguities are caused by the overlapping bands of the wild type and mutated strands due to the nucleotide insertion. The stop TAA triplet predicts a truncating protein with the changed phenotype Y634X.