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The importance of predisposition examination of late Alzheimer´s disease using methods of molecular biology
KOPAČKOVÁ, Michaela
Alzheimer's disease is the most common type of dementia. It affects up to 70% of cases from approximately 38 million people worldwide suffering from some type of dementia. Alzheimer's disease usually affects patients over 65 years of age, however, there are exceptions. It is presumed that the number of people with Alzheimer's disease will grow constantly in the future too. Its etiopathogenesis is not yet fully understood, that is why it is important to investigate dementia further, whether in terms of specific environmental and genetic risk factors, or in view of the economic burden for the society. The presented bachelor's thesis summarises findings about Alzheimer's disease, its neurobiology, etiology, diagnostics and genetic predispositions, in particular the ApoE, APP, PSEN1 and PSEN2 genes. The presence of epsilon 4 gene allele for apolipoprotein E provably contributes to the increased risk of the late form of Alzheimer's disease. On the contrary, mutation in APP, PSEN1 and PSEN2 genes are connected with Alzheimer's disease with the early onset of the disease, before 65 years of age. The objective in the experimental part was to manage the practical isolation of DNA from peripheral blood and buccal swab, preparation and execution of PCR reaction, detection of PCR products by gel electrophoresis and independent examination of ApoE gene by a certified CVD StripAssay Kit from ViennaLab company (PentaGen). The work also includes the optimisation of another molecular genetic method for the detection of variant alleles of ApoE gene. This method was carried out by a certified DiaPlexQTM ApoE Kit from SolGent Co., Ltd. The principle of detection in this case is based on real-time PCR.
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