Skip to main content
Figure 1 | BMC Medical Genetics

Figure 1

From: Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

Figure 1

Localisation of the Insertion and Deletion Breakpoints. (a) Long range PCR products for patient P1, his mother M1, and his father F1 separated on a 0.8% agarose gel. Marker: 100 bp DNA Ladder. Amplicon A2 represents the wildtype fragment and A1 the PCR product with the L1HS insertion. Schematic drawing shows the L1HS insertion in exon 12. Exons are indicated as boxes, introns as interrupted lines. The L1HS insertion is flanked by a 15 bp target site duplication (black boxes). (b) Sequence of the breakpoint junction in patient P2 compared to control sequence. Homologous regions are boxed. (c) Sequence alignment of the breakpoint junction in patients P3 and P4 and the control 5' and 3' regions.

Back to article page