METHOD FOR DIAGNOSING DOWN'S SYNDROME BY USING DOWN'S SYNDROME-SPECIFIC EPIGENETIC MARKER

摘要

The present invention relates to a method for providing information for diagnosis of Down's syndrome and a method for diagnosis of Down's syndrome, each method comprising the steps of: measuring a methylation level of a Down's syndrome biomarker in a biological sample isolated from a fetus, wherein the biomarker is a first biomarker located at chromosome 21, a second biomarker located at chromosomes other than chromosome 21, or a combination thereof; comparing the measured methylation level of the biomarker with methylation levels of the first and the second biomarker in a biological sample isolated from a normal control; and determining the presence or onset risk of Down's syndrome in the fetus on the basis of the comparison of the methylation levels, whereby the method enables early diagnosis of Down's syndrome with high accuracy and is expected to be applied as a pivotal technology in the Down's syndrome diagnosis field.