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EPIGENETIC BIOMARKER COMPOSITION FOR DIAGNOSING DOWN SYNDROME, AND USE THEREOF
EPIGENETIC BIOMARKER COMPOSITION FOR DIAGNOSING DOWN SYNDROME, AND USE THEREOF
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机译:表观遗传生物标志物组合物用于诊断综合征,以及其用途
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摘要
The present invention relates to: a composition for diagnosing Down syndrome, comprising an agent for measuring the 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; a kit comprising the composition; a diagnostic method; and a method for providing information for diagnosis. The present invention enables highly accurate early diagnosis of Down syndrome, and thus is expected to be applied as a core technology in the diagnostic field of Down syndrome.
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