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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 4.

Figure 4

Methylation analysis of the imprinting control region (ICR) in the 5′ end of SNRPN A) Methylation-sensitive Southern blot analysis of Case 6856 reveals the ratio of methylated alleles (maternal, mat) to unmethylated alleles (paternal, pat) is higher than expected based on parental copy number, 4.35:1 observed versus 3:1 expected. B, C) Bisulfite sequencing of the ICR in Case 6856 (B) and Case 7014 (C). Circles represent the 33 CpG sites present in each clone, with filled circles representing methylated CpG sites, and unfilled circles representing unmethylated CpG sites. Each horizontal line represents the sequence of an individual clone. D) Graph of the percent methylation in individual clones from Prader-Willi syndrome samples (19 clones) compared to Case 6856 (21 clones) and Case 7014 (22 clones). All clones for Case 6856 and 7014 are either fully methylated (above 80%) or completely unmethylated.