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

摘要

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.