IL10RA Composition for diagnosing of refractory inflammatory bowel disease in pediatric patients comprising single nucleotide polymorphism marker in IL10RA gene

• Main Authors: OH, SEAK HEE, KIM, KYUNG MO, BAEK, JI WON, SONG, KYU YOUNG
• Format: Patent
• Language: English; Korean
• Published: 08.12.2016
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

The present invention relates to a child intractable inflammatory bowel disease diagnosing composition including a single nucleotide polymorphism marker in an IL10RA gene. Specifically, a mutation (T179T) which does not induce a change in amino acids in IL10RA known as a gene of a child intractable inflammatory bowel disease affects RNA splicing, so a protein product in which 448 amino acids are missed in IL10RA is produced. It has been confirmed that the protein product paralyzes IL10 signal transferring and causes an intractable inflammatory bowel disease. The frequency of the mutation in a normal Korean is 0.035%, but the composition can be utilized as a biomarker for diagnosis before childbirth. 본 발명은 IL10RA 유전자 내의 단일염기다형성 마커를 포함하는 소아 난치성 염증성장질환 진단용 조성물에 관한 것으로서, 상세하게는, 소아 난치성 염증성장질환의 유전자로 알려진에서 아미노산의 변화를 유도하지 않는 변이(T179T)가 RNA 스플라이싱(splicing)에 영향을 주어에서 448개의 아미노산이 결여된 단백산물을 만들며, 이렇게 만들어진 단백산물은 IL10 신호전달을 마비시켜 난치성 염증성장질환의 원인이 되는 것을 확인한 것으로, 이 돌연변이의 정상 한국인에서의 빈도는 0.035%이지만, 산전 진단용 바이오마커로 활용될 수 있다.