Anadolu'daki Nadir Otoinflamatuvar Hastalıklar ile İlişkili Mutasyonlar için Alel Yaşının Hesaplanması

Abstract

Autoinflammatory diseases are diseases that emerge from the abnormalities in the innate immune system of the individuals. In the crisis times, one of the mostly seen symptom is the high amount of inflammation biomarkers. Also, fever and pain are usually seen with inflammation. In this thesis study, allele ages of mutations related to three rare autoinflammatory diseases (Familial Mediterenian Fever, Tumor Necrosis Factor Receptor Associated Periodic Fever Syndrome and Behçet’s Disease) important for Anatolia are studied by using ancient and modern Anatolian samples. Allele age is a population genetics parameter. Basically, it is the time passed since the mutation emerged for the first time in a population. It can be computed by many different methods. One of them is genealogy-based methods. In this study, the bioinformatics tool Relate which computes many population genetics parameters together with allele ages via genealogy-based method was used. Relate creates genealogy trees for each region of the genome using the input data given. Then, it maps the mutations to the branches. Using the branches the mutations are mapped, it computes the allele ages. Using this method, allele ages for 26 SNPs were estimated (computed lowest age limit is 981.452 generations & computed highest age limit is 74080.4 generations). For the Familial Mediterenian Fever, older age results than found previously in Anatolia were computed. Additionally, by calculating the allele frequencies of SNPs, any possible relation between the ages and the frequencies were analyzed via correlation tests. As a result, no correlation was found between the allele ages and the frequencies.