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Sequencing of the ZNF341 gene
POSPÍCHALOVÁ, Kateřina
In my bachelor thesis I dealt with the issue of the ZNF341 gene, which is associated with a defect in the STAT3 protein, causing the syndrome of hyperimmunoglobulinemia E. Hyper IgE syndrome is a multiorgan disease causing eczema, allergies, scoliosis and many other diseases. In the theoretical part, I focused on the ZNF341 gene, its characteristics, its location on the chromosome and the disease that causes its deficiency. Subsequently, I focused on the already mentioned disease of hyperimmunoglobulinemia E. In this disease, I investigated in what forms it occurs and what are its causes and consequences. I also mentioned in the theoretical part about the PCR method and DNA sequencing methods. In the practical part I processed 20 anonymized samples. For all samples I performed DNA isolation, PCR, electrophoresis, purification of PCR products. This was followed by preparation for Sanger sequencing. I sent the samples to GenSeq s.r.o. for sequencing because there was no appropriate sequencer in the school lab. In the final part of the bachelor thesis I evaluated the obtained sequences. I used the BioEdit program and the NCBI internet database to evaluate the sequences. I also received several sequences from children from the České Budějovice and Karviná regions. I then compared the incidence of gene mutations in these samples. Out of a total of 40 samples evaluated, I found a mutation in two of them. It was the same mutation that has not yet been described in the NCBI database.
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