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Examination of polymorphisms in the IFITM3 gene using sequences and their clinical significance for the course of viral diseases.
 TROJÁKOVÁ, Simona
Interferon Induced Transmembrane Protein 3 is an anti-inflammatory cytokine that belongs to the group of interferon-stimulated genes. The topology of the IFITM3 gene was clarified by the analysis of electron paramagnetic and nuclear magnetic resonance. The protein encoded by this gene induces immunity against influenza A virus and other viral diseases. It also disturbs the homeostasis of intracelular cholesterol, inhibits the entry of viruses into the cytoplasm of the host cells and inactivates new enveloped viruses originating from an infected cell. IFITM proteins reduce virus replication by regulating the expression of viral protein and by reducing the infectivity of developing viruses. The analysis of the single-nucleotid polymorphisms in the IFITM3 gene is very significant to clarify the mechanism of the effect of the IFITM3 protein and its influence on the severity of the course of the viral diseases. The theoretical part deals with the description of Interferon Induced Transmembrane Proteins, particularly the description and function of the IFITM3 gene, including its polymorphisms. This gene is located on chromosome 11 and its size is approximately 18 Kb. The gene variability of the IFITM3 can fundamentally affect the course of influenza and other viral diseases. The practical part of the thesis focuses on the detection of polymorphisms rs12252, rs34481144 and rs1136853 in the IFITM3 gene using the PCR method and Sanger sequencing method. It was necessary to master some basic laboratory methods such as DNA isolation from primary samples, PCR method, preparation of the PCR product for sequencing, sequencing data analysis, processing of results and determination of specific genotypes in tested individuals.
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