Figure 3. Mutation analysis of the SLC4A11 gene in family 1

A: Sequencing chromatogram of the exon 8 PCR product from the affected individual V-1. Normal DNA sequence is written on the top of the chromatogram. The deleted nucleotide residues "GAGA" is underlined in the normal sequence. Note deletion of GAGA and insertion of CCT (underlined) in the chromatogram. B: Agarose gel electrophoresis of PCR products from all individuals using wild-type (upper panel) and mutant allele-specific primer sets (lower panel). Note all normal individuals had bands in the upper panel as expected. All heterozygotes and patients had bands in the lower panel as expected. Lanes M and B stand for 100 bp marker and no template PCR, respectively. Individuals noted on top of the gel pictures are as in Figure 1. An asterisk marks the primer-dimer band.