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Molecular genetic markers in myeloproliferative syndromes
MATOUŠOVÁ, Karolína
The issue of the origin and development of myeloproliferative diseases is what I deal with. This group of diseases is caused by various mutations at the genetic level. The work deals with the aberrations with the highest frequency, which are Janus kinase 2, calreticulin, MPL and the fusion oncogene BCR-ABL. The main criteria was to map the mutations already mentioned. Part of the work is a description of the process, starting with sample processing, through the collection of biological material, to the description of data from molecular genetic laboratory methods. The method used was mainly polymerase chain reaction of the ARMS-PCR type, which proved the presence of mutations. The results of examinations of patients with a computer system of a genetic laboratory in a hospital in České Budějovice. The files contained the results of examinations of 302 patients over a three-year period, from 2017 to 2019, plus 27 samples processed by me during the internship. As another telling value, I found the median from the whole data set. The data was entered according to the results of the mutation and entered into tables. Subsequently, I proved their sum and percentage calculation, I expected their partial occurrence. Based on the statistical evaluation of individual mutations, I proved the highest percentage of mutations in the JAK2 gene. It significantly exceeded the mutations of the MPL and CALR genes. I am the final values of aberrations for objective assessment by evaluating professional studies, which were focused on insufficient issues. I compared the final values of aberrations with several professional studies that focused on the same issue, for objective assessment. Genetic testing is a common concern in these patients today. The so-called genetic profile of the patient in connection with the choice of treatment is beginning to be considered. It is possible that different therapeutics work for different types of mutations. Although it may often appear to be the same disease in several different patients, it is precisely the genetic results that often reveal a different aberration.
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