Figure 2 of Gallus, Mol Vis 2010; 16:178-183.


Figure 2. OPA1 mutation in the Autosomal Dominant Optic Atrophy (ADOA) family. A shows the agarose gel of products from polymerase chain reaction (PCR) of exon 8. Lane 1 is patient sample (V-3), lanes 2 and 3 are normal controls, lane 4 is patient’s mother (IV-8). B shows comparison of sequences of allele with Alu insertion and normal allele. Exon sequence is shown in bold and highlighted in sky blue; direct repeats flanking the Alu insertion are shown in bold and underlined; Alu element with poly(A) tail is highlighted in yellow; arrows in the normal sequence indicate the cuts. C shows complementary and reverse sequence of mutated region in OPA1 gene with sequence elements of the Alu repeat. Consensus target site is shown in red bold characters and underlined; target-site duplications of the OPA1 gene sequence flanking the integrated DNA are highlighted in sky blue; A and B box sequences (RNA polymerase III promoter) are highlighted in green and violet, respectively; poly(A) tail is highlighted in yellow. D shows the agarose gel of products from reverse transcription–PCR of exons 6–10 of the OPA1 gene. Lane 1 is patient sample (V-3), lanes 2, 3, and 4 are normal controls. E shows electropherogram section with the skipping of exon 8.