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1. WO2022005010 - METHOD FOR DIAGNOSING DOWN’S SYNDROME BY USING DOWN’S SYNDROME-SPECIFIC EPIGENETIC MARKER

Publication Number WO/2022/005010
Publication Date 06.01.2022
International Application No. PCT/KR2021/005717
International Filing Date 07.05.2021
IPC
C12Q 1/6883 2018.1
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
68involving nucleic acids
6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
6883for diseases caused by alterations of genetic material
Applicants
  • 의료법인 성광의료재단 SUNGKWANG MEDICAL FOUNDATION [KR]/[KR]
Inventors
  • 류현미 RYU, Hyun Mee
  • 임지혜 LIM, Ji Hyae
Agents
  • 리앤목 특허법인 Y.P.LEE, MOCK & PARTNERS
Priority Data
10-2020-008168502.07.2020KR
Publication Language Korean (ko)
Filing Language Korean (KO)
Designated States
Title
(EN) METHOD FOR DIAGNOSING DOWN’S SYNDROME BY USING DOWN’S SYNDROME-SPECIFIC EPIGENETIC MARKER
(FR) PROCÉDÉ POUR DIAGNOSTIQUER LE SYNDROME DE DOWN EN UTILISANT UN MARQUEUR ÉPIGÉNÉTIQUE SPÉCIFIQUE AU SYNDROME DE DOWN
(KO) 다운증후군 특이적인 후성학적 마커를 이용한 다운증후군 진단 방법
Abstract
(EN) 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.
(FR) La présente invention concerne un procédé pour fournir des informations pour le diagnostic du syndrome de Down et un procédé pour le diagnostic du syndrome de Down, chaque procédé comprenant les étapes suivantes : mesure d'un niveau de méthylation d'un biomarqueur du syndrome de Down dans un échantillon biologique isolé à partir d'un foetus, le biomarqueur étant un premier biomarqueur situé au niveau du chromosome 21, un second biomarqueur situé au niveau de chromosomes autres que le chromosome 21, ou une combinaison de ceux-ci ; comparaison du niveau de méthylation mesuré du biomarqueur avec les niveaux de méthylation du premier et du second biomarqueur dans un échantillon biologique isolé à partir d'un témoin normal ; et détermination de la présence ou du risque d'apparition du syndrome de Down chez le foetus sur la base de la comparaison des niveaux de méthylation, le procédé permettant un diagnostic précoce du syndrome de Down avec une grande précision et devant être appliqué comme une technologie pivot dans le domaine du diagnostic du syndrome de Down.
(KO) 태아로부터 분리된 생물학적 시료로부터 다운증후군 바이오마커의 메틸화 수준을 측정하는 단계로서, 상기 바이오마커는 21번 염색체에 존재하는 제1 바이오마커, 21번 염색체 외의 염색체에 존재하는 제2 바이오마커, 또는 이들의 조합을 포함하는 것인 단계; 상기 측정된 바이오마커의 메틸화 수준을 정상 대조군으로부터 분리된 생물학적 시료의 상기 제1 및 제2 바이오마커의 메틸화 수준과 비교하는 단계; 및 상기 메틸화 수준을 비교하여 상기 태아의 다운증후군의 존재 또는 발병 위험을 결정하는 단계를 포함하는 다운증후군 진단을 위한 정보를 제공하는 방법 및 다운증후군 진단 방법에 관한 것으로써, 다운증후군을 높은 정확도로 조기 진단이 가능하므로, 다운증후군 진단 분야의 핵심 기술로 응용될 수 있을 것으로 기대된다.
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