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The PCR method optimization for analysis of the gene PAI-1 polymorphism
SPĚVÁKOVÁ, Daniela
The plasminogen activator inhibitor (PAI-1) is an important biomarker of fibrinolysis. This glycoprotein acts as a principal inhibitor of plasminogen activators and its high plasma level is associated with various types of diseases, such as cardiovascular diseases or malignant tumors. The PAI-1 gene is located on chromosome 7 in region 7q22.1. In 1993 4G/5G polymorphism was discovered in the gene promoter. The 4G allele increases PAI-1 gene expression which results in a higher plasma level of this inhibitor. That's why this polymorphism has become the subject of many studies. The main aim of my bachelor thesis was to optimize the ARMS-PCR method for analysis of the gene PAI-1 4G/5G polymorphism. Other goals were to write a specialized research on this subject and to learn the techniques used in the genetic laboratory (DNA isolation, DNA concentration measurement, Real-time PCR). In the theoretical part I describe the PAI-1 gene and its product. I deal mainly with the role of this inhibitor in the mechanism of fibrinolysis and its influence on various diseases. Furthermore, I showed an overview of methodological approaches used for genetic analysis of 4G/5G polymorphism in PAI-1 gene. In the practical part there are presented procedures of optimization of the ARMS PCR method and the results of the genotypes of the examined group obtained by the Real-time PCR method, when a commercial kit was used. The optimization of the ARMS-PCR method was not successful.
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Role of nurse in education of a patient with trombophilia mutation
KOHOUTOVÁ, Denisa
The present bachelor thesis deals with the issue of education of patients with thrombophilic mutation. The aim of this work was to find out how patients are satisfied with the education about thrombophilic mutation provided by nurses, to map education of patients with thrombophilic mutation at paediatric and gynaecologic outpatient departments. Two research questions were set to achieve the goals. How education of patients with thrombophilic mutation is performed at paediatric and gynaecologic outpatient departments? What questions are most frequently asked by patients with thrombophilic mutation within their education? A qualitative approach was chosen to the research, namely the method of semi-structured interview. We focused on the education process implementation from the point of view of a nurse and a patient. The research sample consisted of 6 respondents with thrombophilic mutation diagnosed. There were only girls 20-29 years old. Next 6 respondents were general nurses working at the gynaecologic and paediatric departments, with the outpatient surgeries and the clinical haematology department. The research results have shown that the knowledge and skills in thrombophilic mutation are insufficient in the addressed research sample at some departments. The research has also revealed a problem in relation to the education of patients with thrombophilic mutation. Nurses only perform education in thrombophilic mutation to a small extent and only some topics, they leave most of it up to physicians. This research gives possibilities to make a research of wider and more detailed extent focused on the knowledge among patients with thrombophilic mutation and the position of a nurse within education quality improvement.
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