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Updated: Aug 19, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[The multiplex analysis of epigenetic markers and genetic markers by post-digestion mutagenically separated PCR]
Gui-sen Zhao1, Dai-xin Huang, Wen-fang Feng
1Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430030 PR China.
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.
