It is well demonstrated that DNA methylation plays an important role in the regulation of gene expression, tumorigenesis, and other epigenetic diseases. Aberrant DNA methylation is mainly found in 5´-CpG-3´dinucleotides within promoters or in the first exon of genes, which is an important pathway for the repression of gene transcription in diseased cells.
There have been many methods for the detection of DNA methylation. All of these methods require a bisulfite-based DNA modification before starting methylation assays such as methylation-specific PCR, sequencing, restriction analysis, and others. The bisulfite-based DNA modification is used to discriminate between cytosine and methylated cytosine, in which DNA is treated with bisulfite salt to convert cytosine residues to uracil in a single-stranded DNA, while methylated cytosine remains the same.