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1. (WO2018016884) COMPOSITION FOR DIAGNOSING CONGENITAL FUNCTIONAL DISORDER, AND USE THEREOF
Latest bibliographic data on file with the International Bureau    Submit observation

Pub. No.:    WO/2018/016884    International Application No.:    PCT/KR2017/007801
Publication Date: 25.01.2018 International Filing Date: 20.07.2017
IPC:
C12Q 1/68 (2006.01)
Applicants: GREEN CROSS GENOME CORPORATION [KR/KR]; 107, Ihyeon-ro 30beon-gil, Giheung-gu Yongin-si Gyeonggi-do 16924 (KR).
GREEN CROSS MEDICAL SCIENCE [KR/KR]; 107, Ihyeon-ro 30beon-gil, Giheung-gu Yongin-si Gyeonggi-do 16924 (KR)
Inventors: CHO, Eun-Hae; (KR).
JANG, Ja-Hyun; (KR).
LEE, Taeheon; (KR).
JEON, Young-Joo; (KR).
YOO, Han-Wook; (KR).
KIM, Ki Soo; (KR).
LEE, So Young; (KR).
KIM, Young-Eun; (KR).
LEE, Junnam; (KR).
KIM, Gu-Hwan; (KR).
LIM, Chae Hyun; (KR).
KIM, Min jung; (KR).
HWANG, Tai-Ju; (KR).
YOO, Ki-Young; (KR)
Agent: LEE, Cheo Young; (KR).
CHANG, Je Hwan; (KR)
Priority Data:
10-2016-0092035 20.07.2016 KR
10-2016-0092036 20.07.2016 KR
10-2016-0092037 20.07.2016 KR
Title (EN) COMPOSITION FOR DIAGNOSING CONGENITAL FUNCTIONAL DISORDER, AND USE THEREOF
(FR) COMPOSITION DESTINÉE À DIAGNOSTIQUER UN TROUBLE FONCTIONNEL CONGÉNITAL ET SON UTILISATION
(KO) 선천성 기능장애 진단용 조성물 및 이의 용도
Abstract: front page image
(EN)The present invention relates to a composition for diagnosing congenital functional disorders and, more particularly, to: a composition for diagnosing congenital functional disorders, in which a polynucleotide containing a sequence that is complementary to a sequence in an exon region of a particular gene is selected from the group consisting of Inherited Bleeding Coagulation Disorders (IBCD), Inborn Error Of Metabolism (IEM), and RASopathies (RAS); and a use thereof. The composition according to the present invention is useful in that gene mutations related to congenital functional disorders in infants or fetuses can be detected with high sensitivity and accuracy when the composition is used.
(FR)La présente invention concerne une composition destinée à diagnostiquer des troubles fonctionnels congénitaux et, plus particulièrement, une composition destinée à diagnostiquer des troubles fonctionnels congénitaux, dans laquelle un polynucléotide contenant une séquence qui est complémentaire d'une séquence dans une région d'exon d'un gène particulier est choisi dans le groupe constitué par les troubles héréditaires de la coagulation/saignement (IBCD), une erreur inné du métabolisme (IEM), et des RASopathies (RAS) ; et une utilisation de cette composition. La composition selon la présente invention est utile en ce que des mutations géniques liées à des troubles fonctionnels congénitaux chez les nourrissons ou les fœtus peuvent être détectées avec une sensibilité et une précision élevées lorsque la composition est utilisée.
(KO)본 발명은 선천성 기능장애 진단용 조성물에 관한 것으로, 더욱 자세하게는 특정 유전자 엑손 영역 서열에 상보적인 서열을 함유하는 폴리뉴클레오타이드를 유전성 혈액응고 장애(Inherited Bleeding Coagulation Disorders, IBCD), 유전성 대사질환(Inborn Error of Metabolism, IEM) 및 유전성 발달장애(RASopathies, RAS)로 구성된 군으로부터 선택되는 선천성 기능장애 진단용 조성물 및 이의 용도에 관한 것이다. 본 발명에 따른 조성물을 이용하면, 신생아 또는 태아에서 선천성 기능장애와 관련된 유전자 변이를 높은 민감도와 정확도 검출할 수 있어 유용하다.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW.
African Regional Intellectual Property Organization (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Organization (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG).
Publication Language: Korean (KO)
Filing Language: Korean (KO)