Genetic predisposition to inflammatory bowel disease

2012 
Inflammatory bowel disease (IBD) is a chronic, incurable inflammatory disease of the digestive system. The two main disease entities included in the IBD are ulcerative colitis and Crohn's disease. According to epidemiological studies there are more and more new cases every year. In especially among the youngest patients with symptoms of malnutrition and growth inhibition to land up in hospitalwith cancer suspected. The purpose of this study was to determine the genetic predisposition of the disease in the population of children. On the literature study basis there were genes slc11a1, irgm and atg16l1 selected and analyzed. The proteins encoded by these genes probably play a key role in the process of phagocytosis and autophagocytosis. They also interact with other components of the immune system and their dysfunction can lead to inflammation. The study was conducted on a selected group of 77 patients with confirmed IBD and 79 control patients. We used PCR-RFLP technique to detect point mutations, deletions and insertions within the promoter sequence, untranslated region (UTR) and ORF sequences.
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