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Quantitation of transcript bcr / abl in chronic myeloid leukemia
PYTLOVÁ, Kamila
This bachelor thesis in the theoretical part deals with the disease chronic myelogenous leukemia (CML), which accounts for about 25% of the leukemia of the adult age, with maximum incidence in the age group between 50.-70. year of life. With low frequency occurs even in children and adolescents. Chronic myeloid leukemia is characterized by the presence of the hybrid gene bcr/abl, that arises as a result of reciprocal translocation t(9;22)(q34;q11) karyotypicaly detectable as a Ph chromosome. The gene bcr/abl is the hallmark of CML used to refine the diagnosis and monitoring of treatment success. Quantification is carried out either as a relative (often), when the amount of fluorescence of the test gene is compared with the amount of fluorescence of the reference gene, or absolute, when the amount of DNA we are going deduct from the calibration curve, which will provide us with a DNA sample of a given concentration. The aim of this work is to compare different ways of quantification of the transcript bcr/abl. The pursuit of quantification of this transcript has been going on for a long time, involved here organization from around the world. The most sensitive method for detection of the presence of this aberration is the reverse transcription polymerase chain reaction (RT-PCR) detecting the transcript bcr/abl. The second objective of this work is to give an overview of this issue and perform one of the methods for the relative quantification of the gene bcr/abl. The final objective is to get acquainted with the management of samples in the laboratory, and verification and validation of these methods.
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The molecular causes of human diseases and teaching of this topic on high school
Jirkovská, Magdaléna ; Janštová, Vanda (advisor) ; Mourek, Jan (referee)
This bachelor's thesis is a literature research that deals with The molecular causes of human diseases and teaching of this topic on high schools. The first part is focused on an explanation of the molecular causes of selected human diseases mentioned in textbooks for high schools. It also touches another possibilities of teaching these topics at secondary schools. Human diseases mentioned in this part of the bachelor's thesis were chosen by researche of textbooks. The second part of the thesis deals with the evaluation of textbooks. Textbooks were evaluated only in terms of the content of information related to the topic of my thesis. The evaluation criteria were stated upfront and they were identical for all textbooks.
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Molecular evaluation of novel BCR/ABL kinase domain variants in patients with chronic myeloid leukemia
Dvořáková, Lucie ; Peková, Soňa (advisor) ; Kozák, Tomáš (referee)
1 Abstract BCR/ABL is a constitutively active tyrosine kinase that has been shown to be at the heart of the development of chronic myeloid leukemia (CML) and about 30% of acute lymphoblastic leukemia (ALL). With the recent advent of tyrosine kinase inhibitors (TKIs), exemplified by Imatinib, Nilotinib, Dasatinib and Bosutinib, patients with Ph+ CML or ALL are candidates for the therapy with these agents. From the available TKIs, Imatinib is considered as front-line therapy for CML patients in chronic phase, while for Ph+ ALL patients, 2nd generation TKIs (nilotinib, dasatinib, bosutinib) might be considered as more effective therapeutic option. Since the treatment with TKIs is a long-term affair, a substantial proportion of patients acquire some sort of mutation in kinase domain of BCR- ABL, which could be a reason of treatment failure. To date, over ninety BCR/ABL kinase domain mutations have been identified, affecting over 50 amino acids. Recurrent BCR/ABL kinase domain mutations have already been in vitro tested to approximate for their in vivo behavior. Our goal is to invent in vitro technique that would allow testing TKI sensitivity of novel BCR/ABL kinase domain mutations, identified at very low MRD levels. The technique makes use of site-directed mutagenesis to create the novel BCR/ABL kinase domain...
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