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. 1999 Jul 6;96(14):8064–8069. doi: 10.1073/pnas.96.14.8064

Figure 5.

Figure 5

(a) Southern blot of EcoRI/NotI digests of DNA from patients with nonrearrangement BWS and normal controls hybridized with DMRP. Densitometric analysis showed an increase in the cleaved unmethylated (paternal) band with respect to the uncleaved methylated (maternal) band in patients with BWS known to have paternal UPD (lanes 1 and 2) compared with normal individuals (lanes 12 and 13). Methylation at KvDMR1 was absent in the patients with BWS shown in lanes 3, 5, and 8. (b) Loss of imprinting at IGF2 and KvDMR1 in a BWS-associated inv(11). (Left) PCR and RT-PCR analysis at the AvaII/ApaI polymorphism in IGF2 (48). The lane labeled DNA AvaII illustrates that the BWS inv(11) cells and normal skin fibroblast control cells are heterozygous for the AvaII site. The presence of both alleles in the RNA +RT AvaII lane indicates that IGF2 is biallelically expressed. +RT and −RT indicate that the PCR templates were from cDNA (+RT) or mock cDNA (−RT). m, monoallelic; b, biallelic. (Right) Southern hybridization of the DMRP probe to EcoRI/NotI digests of DNA from individuals with BWS with the inv(11), a t(11;22), and t(11;16), as well as a rhabdoid tumor with a t(11;22) (40), all of which disrupt KvLQT1 (39). DNA from the inv(11) fetus with BWS showed an absence of the methylated allele.