Toll Like Receptor Proteins Related Tlr-2 (Arg677trp) And Tlr4(Asp299gly And Thr399ile) Mutations İn Behcets Disease And Significience Of Their Frequencies On The Onset Of The Disease

Behçet disease is a chronic inflamatory disorders with an unknown reason characterized by oral apthas, genital ulcers , erthema nodozum, and recurrent uveitis. Mostly, a Gram negative bacteria or a virus supposed to trigger the disease. Recent functional characterization of Toll-like receptors (TLRs) revealed the role of TLRs in innate immunity to detect the invasion of microbial pathogens. TLRs recognize microbial components that initiates signal transduction pathways which triggers expression of genes in the innate immune system. On the other hand, due to the structural polimorphism or mutation thereby prevent or trigger overactivation of innate immunity leading to some immune disorders, plays an important role in the innate immune system and etiology of Behçet disease. It is aimed to find out the significance of common mutations in TLRs among the patients with Behçet?s disease. For this purpose, the relationship and the frequencies of TLR2 (Arg677Trp) and TLR4 (Asp299Gly, Thr399Ile) mutations in Behcet?s Disease were sought. The TLR gene regions were amplified with Polimerase Chain Reaction (PCR) and underwent restriction enzyme digestion to screen by Restriction Fragment Length Polimorphisms (RFLP) for the mutations. In this study, the mutations in these regions were not found. Furthermore, TLR-4 Thr399Ile region revealed both long (124 bç) and short alleles in both control and Behçet?s disease groups. The RFLP analysis of control and Behçet?s disease group showed that the short allele is not the consequent of mutation rather a haplotype exist in this population. Therefore, the short allele, that was not reported before, needs to be determined by a sequence analysis.