Southern blotting examining methylation at a Not1 site within KvDMR.

<p>The methylated maternal allele is at 4.2 kb and the unmethylated paternal allele is at 2.7 kb. Loss of the methylated maternal allele is shown for the affected individuals, II-1, II-2 and III-1. The methylated maternal allele is retained in I-2 and the unmethylated paternal allele is lost. Control DNA is represented by N and a positive control with loss of maternal allele methylation is in the adjacent lane.