Genetic studies have been well established for identifying sequence variants associated
with phenotypes. With the expanding field of epigenetics, and the growing understanding
of epigenetic regulation of gene expression, similar studies can be undertaken to
also define associations between epigenetic variation and phenotypes. Of particular
interest are imprinted genes, which have parent-of-origin specific regulation and
expression, and are key regulators of early development. Herein, we describe methods
for examining epigenetic regulation by the two major hallmarks of imprinted genes:
differentially methylated regions (DMRs), regulatory DNA sequences with allele specific
methylation; and monoallelic expression, the silencing and transcription of opposite
alleles in a parent-of-origin specific manner.
