公开(公告)号：EP4177355A1

公开(公告)日：2023-05-10

申请号：EP21834599.9

申请日：2021-05-07

申请人： Sungkwang Medical Foundation

发明人： RYU, Hyun Mee ,  LIM, Ji Hyae

IPC分类号： C12Q1/6883

摘要： Provided are a method of providing information for diagnosing Down syndrome and a method of diagnosing Down syndrome, the method comprising measuring a methylation level of a Down syndrome biomarker in a biological sample separated from a fetus, comparing the measured methylation level of the biomarker with a methylation level of the first biomarker and the second biomarker in the biological sample separated from a normal control group, and determining a presence or a risk of Down syndrome by comparing the methylation level, wherein the biomarker is a first biomarker present on chromosome 21, a second biomarker present on a chromosome other than chromosome 21, or a combination thereof. Thus, Down syndrome can be diagnosed early with high accuracy, and the disclosure is expected to be applied as a key technology in the field of Down syndrome diagnosis.

公开(公告)号：EP4177354A1

公开(公告)日：2023-05-10

申请号：EP21832194.1

申请日：2021-05-07

申请人： Sungkwang Medical Foundation

发明人： RYU, Hyun Mee ,  LIM, Ji Hyae

IPC分类号： C12Q1/6883

摘要： Provided are a composition for diagnosing Down syndrome, a kit including the composition, a diagnostic method, and a method of providing information for diagnosing Down syndrome, the composition including an agent for measuring a methylation level of any one gene selected from the group consisting of MXRA8, MIB2, KIF26B, SP5, ZIC4, ENPEP, PITX2, SH3BP2, SEPP1, FLJ32255, SHROOM1, LINC00574, LOC154449, PRRT4, TMEM176B, MNX1, LOC101928483, EGFL7, NACC2, C9orf69, TLX1, FGF8, TACC2, CPXM2, NKX6-2, TLX1NB, IQSEC3, PCDH8, F7, SOX9, PNMAL2, THBD, MAPK8IP2, KLHDC7B, GPR143, IGHMBP2, MRGPRD, CHODL, NCAM2, CYYR1, GRIK1, OLIG2, CLIC6, SIM2, HLCS, MX2, MX1, TMPRSS2, SLC37A1, PDE9A, CBS, CRYAA, C21orf2, TRPM2, TSPEAR, LINC00162, SSR4P1, SLC19A1, LOC100129027, MCM3AP, YBEY, PRMT2, and ITSN1. Thus, Down syndrome can be diagnosed early with high accuracy, and the disclosure is expected to be applied as key a technology in the field of Down syndrome diagnosis.