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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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Determination of HLA B * 27 allele in the Czech population and its importance for the diagnosis of Bechterew's disease
SAILEROVÁ, Veronika
Bechterew's disease, also known as the ankylosing spondylitis, is a chronic lifelong disease, which is three times more likely to affect men than women. The first symptoms usually appear between 15 and 30 year of age. It affects ligaments, joint capsules, tendons, joints between the vertebrae and ribs, etc. With time, inflammations reduce the spinal and thoracic motions and decrease the respiratory capacity of the lungs. The disease was observed early in the history, but only got its name in 1893. It was named after the Russian neurologist Vladimir Bechterev. The exact cause of this disease is still not clear, but the association between AS and the presence of allele HLA-B*27 is wellknown. The practical part of my thesis was conducted in the genetic laboratory GENLABS s.r.o. in Ceske Budejovice under the supervision of Mgr. Dagmar Riegert Bystřická, Ph.D. The aim was to isolate the DNA from the buccal swab and peripheral blood and the subsequent preparation and execution of PCR reaction with the following steps; checking the PCR reaction products by gel electrophoresis, their visualization using a detection system and their substraction. This bachelor thesis contains information about the Bechterew's disease, its history,symptoms, pathogenesis, heredity, etc. It also summarizes information about the HLA molecules, especially the HLA-B*27 allele, which is crucially/essentially associated with this disease, and influences its occurrence across the population. People with the HLA-B*27 allele are 300 times more likely to suffer from this disorder than those without it. The presence of this allele does not (necessarily) guarantee affection by the Bechterew's disease, however, those with the HLA-B*27 allele are at higher risk of developing the disease. Some of the existing subtypes of the HLA-B*27, such as HLAB * 27: 06 and HLA-B * 27: 09, are presumably not associated with this disease in any way.
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