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. Author manuscript; available in PMC: 2009 Feb 2.
Published in final edited form as: J Med Genet. 2008 Oct 7;46(2):86–93. doi: 10.1136/jmg.2008.061580

Figure 5.

Figure 5

Analysis of GABRB3 protein and DNA methylation A) GABRB3 protein level in Case 6856 is reduced compared to controls, while Case 7014 has moderately elevated GABRB3. GAPDH was used as a loading control. B) Schematic representation of the proximal end of GABRB3 with the green line indicating the position of the CpG island. Numbered boxes represent exons and red lines with numbered circles represent the regions that were cloned during bisulfite sequencing of Case 6856. Bisulfite sequencing results, shown below the schematic, reveal hypomethylation of the GABRB3 CpG island. Partial methylation of Region 3 (formally Region 1) within GABRB3 intron 3 was compared to a matched control (1486) and determined to be within the normal range of methylation previously described [18].