Title:
METHOD FOR DIAGNOSING DOWN'S SYNDROME BY USING DOWN'S SYNDROME-SPECIFIC EPIGENETIC MARKER
Document Type and Number:
WIPO Patent Application WO/2022/005010
Kind Code:
A1
Abstract:
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.
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Inventors:
RYU HYUN MEE (KR)
LIM JI HYAE (KR)
LIM JI HYAE (KR)
Application Number:
PCT/KR2021/005717
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:
LIM JI HYAE: "Epigenome-wide base-resolution profiling of DNA methylation in chorionic villi of down syndrome fetuses by methyl-capture sequencing", PH.D. THESIS, vol. 11, 180, 1 January 2019 (2019-01-01), Korea, pages 1 - 60, XP009533500
SHENGNAN JIN, YEW KOK LEE, YEN CHING LIM , ZEJUN ZHENG , XUEQIN MICHELLE LIN , DESMOND P. Y. NG , JOANNA D. HOLBROOK , HAI YANG LA: "Global DNA hypermethylation in down syndrome placenta", PLOS GENETICS, vol. 9, no. 6, e1003515, 6 June 2013 (2013-06-06), pages 1 - 9, XP055248023
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, e1001212, 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, 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, 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 LA: "Global DNA hypermethylation in down syndrome placenta", PLOS GENETICS, vol. 9, no. 6, e1003515, 6 June 2013 (2013-06-06), pages 1 - 9, XP055248023
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, e1001212, 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, 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, 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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