Figure 3

ASM of amplicon 262. (a) Example of ASM of amplicon 262. The figure shows the position of the amplicon in the UCSC genome browser, the positions of the SNP (dbsnp rs2838343) used to discriminate alleles, and the allelic methylation, basically as described in the legend to Figure 2a. The line indicates the border between the methylated and unmethylated part of the amplicon. Sequencing of cDNA showed that the gene is biallelically expressed (data are shown from individual 10). (b) Compilation of results from all heterozygous individuals. Two patterns of ASM were observed in amplicon 262. The line indicates the border between the methylated and unmethylated parts of the amplicon. For further details see the legend to Figure 2b. The original methylation patterns of all samples with ASM are shown in Additional file 5. (c) Methylation level of each allele from all heterozygous individuals. For this analysis the amplicon was split into two pieces corresponding to its left part (28 CpG sites) or right part (14 CpG sites). The data labeled with ASM_1 refer to the right part of the amplicon, ASM_2 refers to the left part and no ASM refers to the full amplicon. (d) Methylation levels of homozygous individuals with A/A or G/G genotypes compared with the methylation levels of A or G alleles from heterozygous individuals. In this analysis the results obtained for individual 2_L were included. The error bars indicate the standard rrror of the mean. After omission of 2_L, the methylation levels of the A and G alleles from A/G heterozygous individuals were 28% and 79%, respectively.