Methylation‐Specific PCR

AbstractDNA methylation is a dynamic covalent modification of DNA that is found in transcriptionally repressed regions of the genome. In concert with other epigenetic modifications, such as the repressive histone H3 modifications of lysine 9 and lysine 27 methylation, DNA methylation acts to repress gene expression through the formation of condensed chromatin structures. Thus, DNA methylation is a marker for gene repression. Methylation‐specific PCR (MSP) is a rapid and inexpensive method that can be used to determine the methylation status of DNA. MSP can be used to assess CpG methylation at imprinted genes and on the inactive X chromosome. In addition, MSP can be used to investigate the aberrant DNA methylation that occurs in diseases such as fragile X syndrome and in many types of cancers. MSP is rapid, inexpensive, and relatively simple to perform and provides a powerful tool to investigate these epigenetic processes. Curr. Protoc. Hum. Genet. 61:10.6.1‐10.6.14. © 2009 by John Wiley & Sons, Inc.