[The multiplex analysis of epigenetic markers and genetic markers by post-digestion mutagenically separated PCR].

Objective To establish a novel method for the multiplex analysis of the methylation and single nucleotide polymorphism (SNP). Methods The imprinted SNP rs220028 was chosen as a model. Genomic DNA, after being digested with methylation sensitive restriction enzyme, were typed by mutagenically separated PCR (MS-PCR). The polymorphism of restriction site was excluded by PCR-RFLP. Results By post-digestion MS-PCR, the methylated allele was detected selectively, the maternal origin of which was confirmed by pedigree analysis; A=0.5085,G=0.4915,PIC=0.3749. Conclusion The multiplex analysis of methylation markers and SNP can be achieved by post-digestion MS-PCR. The imprinted SNP locus rs220028 is a potentially useful marker in screening Prader-Willi/Angelman syndrome.