Çocukluk Çağı Tüberküloz Olgularında IL-12p40, IL-12R?1, IFN?R1, IFN?R2 Gen Mutasyonlarının Araştırılması

Abstract

Objective: In the project titled "Investigation of IL-12p40, IL-12Rβ1, IFNɣR1, IFNɣR2 Gene Mutations in Childhood Tuberculosis Cases", IL-12p40, IL12 receptor β-subunit (IL-12Rβ1), IFNɣ receptor 1 (IL-12Rβ1), which are thought to be important in genetic susceptibility to tuberculosis IFNɣR1), IFNɣ receptor 2 (IFNɣR2) mutations were aimed to investigate the relationship between tuberculosis disease. Materials and Method: Thirty patients with extrapulmonary tuberculosis disease were evaluated within the scope of the study. Blood with EDTA was taken from the patient group and mutations in IL-12B, IL -12Rβ1, IFNɣR1, IFNɣR2 genes were investigated by sequence analysis method. Results: As a result of the study, although no mutations were found in IL-12B, IL -12Rβ1, IFNɣR1, IFNɣR2 genes in the patient group, polymorphisms in these genes that may cause susceptibility to tuberculosis disease were detected. Conclusion: Four of the genes responsible for mycobacterial susceptibility (MHMY) etiology were determined in pediatric patients with EP TB, which may cause susceptibility to TB infections. In order to determine the clinical significance of these changes, it is necessary to determine their frequency in control cases and to conduct functional studies.