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1. KR1020200097617 - SINGLE NUCLEOTIDE POLYMORPHISM MARKER FOR PRECOCIOUS PUBERTY DIAGNOSIS OR TREATMENT PROGNOSIS PREDICTION THEREOF, AND USE THEREOF

Office
République de Corée
Numéro de la demande 1020190046714
Date de la demande 22.04.2019
Numéro de publication 1020200097617
Date de publication 19.08.2020
Numéro de délivrance 102181563
Date de délivrance 23.11.2020
Type de publication B1
CIB
C12Q 1/6883
CCHIMIE; MÉTALLURGIE
12BIOCHIMIE; BIÈRE; SPIRITUEUX; VIN; VINAIGRE; MICROBIOLOGIE; ENZYMOLOGIE; TECHNIQUES DE MUTATION OU DE GÉNÉTIQUE
QPROCÉDÉS DE MESURE OU DE TEST FAISANT INTERVENIR DES ENZYMES, DES ACIDES NUCLÉIQUES OU DES MICRO-ORGANISMES; COMPOSITIONS OU PAPIERS RÉACTIFS À CET EFFET; PROCÉDÉS POUR PRÉPARER CES COMPOSITIONS; PROCÉDÉS DE COMMANDE SENSIBLES AUX CONDITIONS DU MILIEU DANS LES PROCÉDÉS MICROBIOLOGIQUES OU ENZYMOLOGIQUES
1Procédés de mesure ou de test faisant intervenir des enzymes, des acides nucléiques ou des micro-organismes; Compositions à cet effet; Procédés pour préparer ces compositions
68faisant intervenir des acides nucléiques
6876Produits d’acides nucléiques utilisés dans l’analyse d’acides nucléiques, p.ex. amorces ou sondes
6883pour les maladies provoquées par des altérations du matériel génétique
CPC
C12Q 1/6883
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
1Measuring or testing processes involving enzymes, nucleic acids or microorganisms
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
C12Q 2600/118
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
118Prognosis of disease development
C12Q 2600/156
CCHEMISTRY; METALLURGY
12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
2600Oligonucleotides characterized by their use
156Polymorphic or mutational markers
Déposants 아주대학교산학협력단
AJOU UNIVERSITY INDUSTRY-ACADEMIC COOPERATION FOUNDATION
Inventeurs HWANG JIN SOON
JEONG SEON YONG
LEE HAE SANG
황진순
KIM EUN YOUNG
정선용
이해상
김은영
Mandataires 특허법인태백
Données relatives à la priorité 1020190014993 08.02.2019 KR
Titre
(EN) SINGLE NUCLEOTIDE POLYMORPHISM MARKER FOR PRECOCIOUS PUBERTY DIAGNOSIS OR TREATMENT PROGNOSIS PREDICTION THEREOF, AND USE THEREOF
(KO) 성조숙증 진단 또는 치료 예후 예측용 단일염기다형성 마커 및 이의 용도
Abrégé
(EN)
The present invention relates to a single nucleotide polymorphism marker for precocious puberty diagnosis or treatment prognosis prediction, and a use thereof. In the present invention, the DNA of 700 girl patients of precocious puberty is processed on a microarray chip containing a total of 8,754,887 SNP probes so that SNP genotype data is obtained, and 23 SNPs related to the risk of developing precocious puberty are discovered by means of genome-wide association analysis so that the SNPs can be used for precocious puberty diagnosis or treatment prognosis prediction, early diagnosis of precocious puberty can be conveniently and rapidly carried out, and the prediction of treatment effects and prognosis can be carried, and thus the present invention can be effectively used in personalized treatment. COPYRIGHT KIPO 2021

(KO)
본 발명은 성조숙증 진단 또는 치료 예후 예측용 단일염기다형성 마커 및 이의 용도에 관한 것으로, 본 발명에서는 700명의 성조숙증 여아 환자의 DNA를 총 8,754,887 SNP 프로브가 포함된 마이크로어레이 칩에 처리하여 SNP 유전형 데이터를 획득하고 전장유전체 연관성 분석을 통해 성조숙증 발병 위험도와 연관된 23개의 SNP를 발굴한 바, 상기 SNP는 성조숙증 진단 또는 치료 예후 예측에 활용될 수 있으며, 간편하고 신속하게 성조숙증의 조기 진단이 가능하고 치료 효과 및 예후에 대한 예측이 가능하여 개인별 맞춤 치료에 유용하게 활용될 수 있다.

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