COMPOSITION FOR DIAGNOSING CONGENITAL FUNCTIONAL DISORDER, AND USE THEREOF

Title:

COMPOSITION FOR DIAGNOSING CONGENITAL FUNCTIONAL DISORDER, AND USE THEREOF

Document Type and Number:

WIPO Patent Application WO/2018/016884

Kind Code:

A1

Abstract:

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.

More Like This:

WO/2012/067450	EFEMP1 GENE AS A DIAGNOSTIC MARKER FOR PROSTATE CANCER
WO/2003/091388	POLYMORPHIC OLFACTORY RECEPTOR GENES AND ARRAYS, KITS AND METHODS UTILIZING THEM
JP5748652	Use of cathepsin C

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)

Application Number:

PCT/KR2017/007801

Publication Date:

January 25, 2018

Filing Date:

July 20, 2017

Export Citation:

Click for automatic bibliography generation Help

Assignee:

GREEN CROSS GENOME CORP (KR)
GREEN CROSS MEDICAL SCIENCE (KR)

International Classes:

C12Q1/68

Foreign References:

KR20130009874A

2013-01-23

Other References:

CROONEN, ELLEN A ET AL.: "Prenatal Diagnostic Testing of the Noonan Syndrome Genes in Fetuses with Abnormal Ultrasound Findings", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 21, 16 January 2013 (2013-01-16), pages 936 - 942, XP055455264
NEERMAN-ARBEZ, MARGUERITE ET AL.: "Prenatal Diagnosis for Congenital Afibrinogenemia Caused by A Novel Nonsense Mutation in the FGB Gene in A Palestinian Family", BLOOD, vol. 101, no. 9, 1 May 2003 (2003-05-01), pages 3492 - 3494, XP055456006
MURO, S ET AL.: "Feasibility of DNA Based Methods for Prenatal Diagnosis and Carrier Detection of Propionic Acidaemia", JOURNAL OF MEDICAL GENETICS, vol. 36, 1999, pages 412 - 414, XP055455276
HALABAN, RUTH ET AL.: "RASopalhy Gene Mutations in Melanoma", THE JOURNAL OF INVESTIGATIVE DERMATOLOGY, vol. 136, 9 July 2016 (2016-07-09), pages 1755 - 1759, XP055455287