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The possibilities of genetic testing for mutation and polymorphisms in connection with cardiovascular diseases.
ČALOUNOVÁ, Lucie
Cardiovascular diseases (CVD) belong to the most current issues nowadays and they are the most frequent death reasons in the developed countries. Atherosclerosis and thrombosis, which might be genetically determined rank among the main causes of the inception. Knowledge of genetic predispositions might be helpful for patients to minimize the risk of CVD. Other prevention such as healthy lifestyle and restriction or better to say complete elimination of high risk factors, e.g. smoking is very important though. The goal of this bachelor work is practical mastery of reverse hybridization on strips to detect the mutations and polymorphisms, which are related to cardiovascular diseases and prepare the research into this issue. In the theoretical part, I apply with a description of mutations and polymorphisms closely related to cardiovascular diseases, which might be identified with the help of kit CVD Strip Assay within one experiment. Afterwards I pay attention to the description of alternative analytic methods recognizing above mentioned selective mutations and polymorphisms. I deal with my own results obtained in the genetic laboratory GENLABS ltd. These are the FV Leiden, FV R2 haplotype, prothrombin, FXIII, -fibrinogen, PAI-1, HPA-1, MTHFR 677, MTHFR 1298, ACE, Apo B, Apo E. I used the method of reverse hybridization on strips to identify the mutations and polymorphs. The patients' samples from the GENLABS laboratory were used to this research.
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