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Figure 2 | Molecular Cytogenetics

Figure 2

From: Dysregulation of FOXG1 by ring chromosome 14

Figure 2

Molecular detection of the breakpoints. a: Schematic orientation of primers designed to amplify the breakpoints on the deleted and the ring chromosome 14. b: Agarose gel electrophoresis of PCR products obtained by primers D1-D3 and A1-A3. Specific amplifications (*) were observed at 62°C in patient (P) DNA but not in control (C) samples. NC: negative control. c: Mate-pair reads spanning the proximal and distal breakpoints, with resolutions corresponding to the shaded areas (proximal: ~1,000 bp; distal: ~330 bp). The thin grey lines indicate the position of the breakpoints as detected by Sanger sequencing. d: Position of BLAT sequences following Sanger sequencing, showing the location of the two breakpoints (upper arrows), the proximal two bp (CC) overlap and the distal 5 bp (GGGGC) deletion. e: Position of the proximal r(14) breakpoint in the highly conserved regulatory domain of FOXG1, proximal to the t(2;14)-breakpoint [13].

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