Diş minesi dejeneratif hastalıkları ile ENAM gen polimorfizmlerinin ilişkilerinin araştırılması

The Human Genome Project and advances in molecular genetics have made substantial progress in the identification of genes implicated in the pathogenesis of human diseases. In addition, these projects include dental diseases that affect enamel and dentin formation as well as tooth anomalies. These complex mechanisms are regulated by genes and influenced by epigenetic and environmental factors. Abnormalities in the developmental pathways may result in decreased tissue production and/or poor mineralization quality. Developmental enamel defects may be inherited as a result of mutations in the genes that code for enamel proteins or as a characteristic of more general familial conditions. The genes that encode the enamel matrix proteins are Enamelin (ENAM) and Ameloblastin (AMBN) (4q11-q21), Tuftelin (TUFT) (1q21-31), Matrix Metalloproteinase20 (MMP20) (11q22), and Kallikrein4 (KLK4) (19q13.3-q13.4). The Enamelin gene (ENAM) encodes a matrix protein that is essential for tooth enamel formation. Amelogenesis imperfecta (AI) refers to a group of inherited conditions in which the developmental defects are restricted to the teeth and enamel. This thesis study aims to investigate the possible association between single nucleotid polymorphism (SNP) rs12640848 in ENAM gene and susceptibility to Enamel Degenerative Disease (EDD) in the group of Turkish population. The two groups were investigated enamel degenerative disease patients (n=20) and the control groups (n=20), using real time PCR and statistical analysis of data was performed by the SPSS program. This study is focused on the genotypic and allelic distribution of this SNP (rs12640848). The results revealed no signifcant relationship between the genotype distributions for the ENAM gene (rs12640848) polymorphism between the patient and control groups (p=0.052). However, the distributions of allelic A carrier and noncarrier for the ENAM gene (rs12640848) between the patient and control groups, there was significantly higher frequency of A carriers in patient group (p=0.025). In conclusion, the identification of genes associated with AI, along with the ongoing documentation of mutations responsible for different forms of both AI and enamel generative diseases, will enhance our understanding of the molecular basis underlying enamel anomalies.