Extraction and processing of circulating DNA from large sample volumes using methylation on beads for the detection of rare epigenetic events

Clin Chim Acta. 2013 Oct 21:425:169-75. doi: 10.1016/j.cca.2013.07.023. Epub 2013 Aug 1.

Abstract

The use of methylated tumor-specific circulating DNA has shown great promise as a potential cancer biomarker. Nonetheless, the relative scarcity of tumor-specific circulating DNA presents a challenge for traditional DNA extraction and processing techniques. Here we demonstrate a single tube extraction and processing technique dubbed "methylation on beads" that allows for DNA extraction and bisulfite conversion for up to 2 ml of plasma or serum. In comparison to traditional techniques including phenol chloroform and alcohol extraction, methylation on beads yields a 1.5- to 5-fold improvement in extraction efficiency. The technique results in far less carryover of PCR inhibitors yielding analytical sensitivity improvements of over 25-fold. The combination of improved recovery and sensitivity make possible the detection of rare epigenetic events and the development of high sensitivity epigenetic diagnostic assays.

Keywords: Blood-processing protocols; Cancer epigenetics; Circulating DNA; DNA methylation; Methylation specific PCR; Quantification.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Actins / blood
  • Actins / genetics
  • Aged
  • Biomarkers, Tumor / blood*
  • Biomarkers, Tumor / genetics
  • Carcinoma, Non-Small-Cell Lung / blood*
  • Carcinoma, Non-Small-Cell Lung / diagnosis
  • Carcinoma, Non-Small-Cell Lung / genetics
  • DNA / blood*
  • DNA Methylation
  • Epigenesis, Genetic
  • Female
  • Gene Expression
  • HeLa Cells
  • Humans
  • Lung Neoplasms / blood*
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / genetics
  • Male
  • Microspheres
  • Middle Aged
  • Polymerase Chain Reaction / methods*
  • Polymerase Chain Reaction / standards
  • Sensitivity and Specificity
  • Sulfites / chemistry
  • Tumor Suppressor Proteins / blood*
  • Tumor Suppressor Proteins / genetics

Substances

  • Actins
  • Biomarkers, Tumor
  • RASSF1 protein, human
  • Sulfites
  • Tumor Suppressor Proteins
  • DNA
  • hydrogen sulfite