Rapid and quantitative method of allele-specific DNA methylation analysis

Biotechniques. 2006 Dec;41(6):734-9. doi: 10.2144/000112305.

Abstract

Several biological phenomena depend on differential methylation of chromosomal strands. While understanding the role of these processes requires information on allele-specific methylation, the available methodologies are not quantitative or labor-intensive. We describe a novel, rapid method to quantitate allele-specific DNA methylation based on the combination of bisulfite PCR and Pyrosequencing. In this method, DNA is first treated with sodium bisulfite, which converts cytosine but not 5-methylcytosine to uracil. Genes of interest are subsequently amplified using PCR. Allele-specific methylation can then be determined by pyrosequencing each allele individually using sequencing primers that incorporate single nucleotide polymorphisms (SNPs) that allow differentiation between the two parental alleles. This allele-specific methylation methodology can potentially afford quantitative analyses relevant to the regulation of X chromosome inactivation, allele-specific expression of genes in the immune system, repetitive elements, and genomic imprinting. As an illustration of our new method, we quantitated allele-specific methylation of the differentially methylated region of the H19 gene, which is imprinted. Although we could reliably determine allele-specific methylation with our technique, additional studies will be required to confirm the ability of our assay to measure loss of imprinting.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Cell Line
  • DNA Methylation*
  • Genetic Techniques*
  • Genomic Imprinting
  • Humans
  • RNA, Long Noncoding
  • RNA, Untranslated / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity

Substances

  • H19 long non-coding RNA
  • RNA, Long Noncoding
  • RNA, Untranslated