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Methylation analysis by combined bisulfite restriction analysis (COBRA). BstUI cleaves the bisulfite PCR products only, if the original DNA was methylated. In child no. 33, the relative intensity of the unmethylated KCNQ1OT1 and PEG1 bands is lower when compared to normal control (C1 and C2) and the parents (P1 and P2). Hypo, strongly hypomethylated control; hyper, strongly hypermethylated DNA sample. For PEG1, no hypomethylated DNA sample was available.
