The invention relates to a method for detecting targeted
membrane protein methylation as an imprinting
gene syndrome marker, which comprises the following steps: extracting
whole blood free DNA (deoxyribonucleic acid), treating the
whole blood free DNA by
bisulfite after the
whole blood free DNA is detected to be qualified, and using the whole blood free
DNA as an amplification template; designing and synthesizing a tag primer of a targeted
membrane protein gene; the method comprises the following steps: mixing an amplification template with a tag primer, carrying out PCR amplification, connecting an index sequencing joint special for an illumina sequencing platform, and constructing
amplicon libraries of different tags; quantificationally mixing the
amplicon libraries with different tags, and sequencing on a
machine to obtain a sequencing result; the obtained sequencing result is analyzed through
bioinformatics, and the
methylation mutation condition in the target area is obtained; and detecting the site difference of each
amplicon by adopting a t test method, counting the average
methylation level of each amplicon, and carrying out
differential analysis on each contrast group. The methylation sites of the imprinting
gene SLC22A18 are screened by adopting an amplicon methylation sequencing method, and the method has the advantages of high accuracy,
high flux, short period and low cost.