Title:
EPIGENETIC BIOMARKER COMPOSITION FOR DIAGNOSING DOWN SYNDROME, AND USE THEREOF
Document Type and Number:
WIPO Patent Application WO/2022/005009
Kind Code:
A1
Abstract:
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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Inventors:
RYU HYUN MEE (KR)
LIM JI HYAE (KR)
LIM JI HYAE (KR)
Application Number:
PCT/KR2021/005716
Publication Date:
January 06, 2022
Filing Date:
May 07, 2021
Export Citation:
Assignee:
SUNGKWANG MEDICAL FOUND (KR)
International Classes:
C12Q1/6883
Foreign References:
| KR20190003987A | 2019-01-10 | |||
| KR20190089552A | 2019-07-31 |
Other References:
"PhD Thesis", 1 February 2019, HANYANG UNIVERSITY GRADUATE SCHOOL : DEPARTMENT OF MEDICINE, Korea, article LIM JI-HYE: "Epigenome-wide base-resolution profiling of DNA methylation in chorionic villi of Down syndrome fetuses", pages: 1 - 60, XP055887922
SHENGNAN JIN, YEW KOK LEE, YEN CHING LIM, ZEJUN ZHENG, XUEQIN MICHELLE LIN, DESMOND P Y NG, JOANNA D HOLBROOK, HAI YANG LAW, KENNE: "Global DNA Hypermethylation in Down Syndrome Placenta", PLOS GENETICS, PUBLIC LIBRARY OF SCIENCE, USA, vol. 9, no. 6, 1 June 2013 (2013-06-01), USA, pages e1003515 - 9, XP055248023, DOI: 10.1371/journal.pgen.1003515
KRISTI KERKEL, NICOLE SCHUPF, KOTA HATTA, DEBORAH PANG, MARTHA SALAS, ALEXANDER KRATZ, MARK MINDEN, VUNDAVALLI MURTY, WARREN B. ZI: "Altered DNA Methylation in Leukocytes with Trisomy 21", PLOS GENETICS, vol. 6, no. 11, 18 November 2010 (2010-11-18), pages 1 - 13, XP055139128, DOI: 10.1371/journal.pgen.1001212
LIM JI HYAE, KANG YU-JUNG, LEE BOM YI, HAN YOU JUNG, CHUNG JIN HOON, KIM MOON YOUNG, KIM MIN HYOUNG, KIM JIN WOO, CHO YOUL-HEE, RY: "Epigenome-wide base-resolution profiling of DNA methylation in chorionic villi of fetuses with Down syndrome by methyl-capture sequencing", CLINICAL EPIGENETICS, BIOMED CENTRAL LTD, LONDON, UK, vol. 11, no. 1, 1 December 2019 (2019-12-01), London, UK, pages 1 - 11, XP055885529, ISSN: 1868-7075, DOI: 10.1186/s13148-019-0756-4
OLD ROBERT W; CREA FRANCESCO; PUSZYK WILLIAM; HULTÉN MAJ ANITA: "Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome.", REPRODUCTIVE BIOMEDICINE ONLINE, ELSEVIER, AMSTERDAM, NL, vol. 15, no. 2, 1 January 2007 (2007-01-01), AMSTERDAM, NL , pages 227 - 235, XP008144463, ISSN: 1472-6483, DOI: 10.1016/S1472-6483(10)60713-4
SHENGNAN JIN, YEW KOK LEE, YEN CHING LIM, ZEJUN ZHENG, XUEQIN MICHELLE LIN, DESMOND P Y NG, JOANNA D HOLBROOK, HAI YANG LAW, KENNE: "Global DNA Hypermethylation in Down Syndrome Placenta", PLOS GENETICS, PUBLIC LIBRARY OF SCIENCE, USA, vol. 9, no. 6, 1 June 2013 (2013-06-01), USA, pages e1003515 - 9, XP055248023, DOI: 10.1371/journal.pgen.1003515
KRISTI KERKEL, NICOLE SCHUPF, KOTA HATTA, DEBORAH PANG, MARTHA SALAS, ALEXANDER KRATZ, MARK MINDEN, VUNDAVALLI MURTY, WARREN B. ZI: "Altered DNA Methylation in Leukocytes with Trisomy 21", PLOS GENETICS, vol. 6, no. 11, 18 November 2010 (2010-11-18), pages 1 - 13, XP055139128, DOI: 10.1371/journal.pgen.1001212
LIM JI HYAE, KANG YU-JUNG, LEE BOM YI, HAN YOU JUNG, CHUNG JIN HOON, KIM MOON YOUNG, KIM MIN HYOUNG, KIM JIN WOO, CHO YOUL-HEE, RY: "Epigenome-wide base-resolution profiling of DNA methylation in chorionic villi of fetuses with Down syndrome by methyl-capture sequencing", CLINICAL EPIGENETICS, BIOMED CENTRAL LTD, LONDON, UK, vol. 11, no. 1, 1 December 2019 (2019-12-01), London, UK, pages 1 - 11, XP055885529, ISSN: 1868-7075, DOI: 10.1186/s13148-019-0756-4
OLD ROBERT W; CREA FRANCESCO; PUSZYK WILLIAM; HULTÉN MAJ ANITA: "Candidate epigenetic biomarkers for non-invasive prenatal diagnosis of Down syndrome.", REPRODUCTIVE BIOMEDICINE ONLINE, ELSEVIER, AMSTERDAM, NL, vol. 15, no. 2, 1 January 2007 (2007-01-01), AMSTERDAM, NL , pages 227 - 235, XP008144463, ISSN: 1472-6483, DOI: 10.1016/S1472-6483(10)60713-4
Attorney, Agent or Firm:
Y.P.LEE, MOCK & PARTNERS (KR)
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