The feasibility of PCR-based diagnosis of Prader-Willi and Angelman syndromes using restriction analysis after bisulfite modification of genomic DNA

We have developed a novel PCR-based method for studying DNA methylation in the proximal region of 15q, using restriction analysis after bisulfite trea tment of genomic DNA. This protocol can be used for the diagnosis of Prader -Willi and Angelman syndromes. Unlike the recently reported methylation-spe cific PCR protocol, our method avoids the use of multiplex amplification, t hus overcoming the need to adjust relative primer amounts and the risk of o btaining false-negative results. (C) 2000 Academic Press.