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Figure 3 | BMC Medical Genetics

Figure 3

From: Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

Figure 3

Electropherograms of methylation-specific PCR amplicons for imprinting control regions 1 and 2 (ICR1 and ICR2) corresponding to H19 differentially methylated region (H19DMR). The amplicon is identified above the first column as KvDMR and H19DMR above the second column, as are the methylated (me) and unmethylated (un) peaks corresponding to maternal (mat) or paternal (pat) origin respectively. Top row result from control leucocyte sample, middle row from proband leucocyte sample and bottom row result from proband buccal sample within the same experiment. Presence of both peaks at equivalent abundance to the normal control is consistent with a normal methylation profile; reduction of the maternal peak height at KvDMR indicates relative hypomethylation at this site as seen in the proband leucocyte DNA.

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BMC Medical Genetics

ISSN: 1471-2350

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