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Analysis of mutations in p53 gene by sequencing
BUŘIČOVÁ, Tereza
The task of this work is a detailed literature search to get acquainted with the methodology of the research part in the faculty laboratory of the University of South Bohemia at the Faculty of Health and Social Studies in České Budějovice. The tumor suppressor gene TP53 plays a key role in protection against tumor growth. This gene is mutated in more than 50 % of malignant tumors. In the first part, this bachelor thesis deals with cancer and tumor suppressor genes as a whole, and then in the next part it focuses on the above-mentioned tumor suppressor gene TP53 and mutations in it. The practical part of the work focuses on the analysis of mutations in exon 11. The analysis was performed on thirty samples, which were provided by anonymous probands. These were two groups of probands. Half of the samples, which are numbered 1-15, were provided by probands who had a family history of cancer. The other half consisted of samples, described by letters from A to O, from probands who were unaware that the cancer was in their family. These samples were isolated, amplified by PCR and sequenced by GenSeq s.r.o. in České Budějovice. In the "ocometric" evaluation, it was found that not a single heterozygous mutation was present in the samples. . After inserting the sequence into the NCBI Blast program, I thought that some samples might contain a homozygous mutation. However, after a proper examination, it was found that this was only an illegible part of the sequence. Thus, no mutation was present in any of the examined samples.
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