Figure 2 of Gardner, Mol Vis 2009; 15:876-884.


Figure 2. Sequence analysis of L and M opsin genes in Family 1. Sequence from an affected male (2.1) was generated with primers designed to coamplify both L and M genes. Reference sequences of the L and M genes are shown on top of the patient electropherograms. Nucleotides marked with an arrow indicate known differences between the L and M genes or a patient mutation. A shows electropherogram sequence in the region of exon 1 5′ to the start codon (indicated by capital letters). Note the double peaks (denoted N) at positions of sequence variation between L and M genes (arrows), indicating the presence of both L and M exon 1. B shows sequence from Exon 3. Single peaks at positions of known nucleotide variation (arrows) between the L and M genes indicate only L opsin exon 3 is present. C shows an electropherogram from Exon 4 which indicates M exon 4 sequence only is present. D shows a section of Exon 4 in which a T>C nucleotide substitution (arrow) is present that results in a C203R missense mutation.