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Molecular analysis in cases of inherited diseas
Mrázová, Lenka ; Kmoch, Stanislav (advisor) ; Jirsa, Milan (referee) ; Macek, Milan (referee)
Urcení vztahu mezi onemocnením a jeho molekulární podstatou je jedním z hlavních cílu lékarské genetiky. V rámci studie: "Molekulární analýza vybraných dedicne podmínených onemocnení" byly popsány postupy, které vedou k objasnení molekulární podstaty u onemocnení s již známými odpovednými geny i u onemocnení, u kterého byl odpovedný gen teprve identifikován. Studie prispela k rozšírení znalostí zkoumaných dedicných onemocnení. Zavedené postupy molekulárních analýz jsou soucástí diagnostiky na Ústavu dedicných metabolických poruch v Praze. Výsledky techto analýz slouží k prevenci, prognóze i lécbe onemocnení a u postižených rodin byla umožnena prenatální diagnostika. Výsledky byly publikovány v nekolika domácích i zahranicních odborných casopisech a prezentovány na mezinárodních konferencích. Nekteré z publikací byly dále citovány.
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Altitudinal distribution of apomixis in the high-alpine flora of the Ladakh, NW Himalaya
BROŽOVÁ, Viktorie
Apomixis is a specific way of asexual plant reproduction by seeds. Conversion from sexual reproduction to apomixis is enabled by many different factors. These include molecular changes in DNA, changes on chromosomes, or affinity to certain taxonomical lineages. Even ecological conditions, as stressful high altitude or latitude environment, are thought to be factors capable of turning sexuality into apomixis. To test this hypothesis, we collected seeds of angiosperms from Indian part of Himalayas, in Ladakh. The seeds were analysed by FCSS where ratio of genome sizes of endosperm / embryo revealed type of reproduction system. Our data indicated 9 apomictic species from 232 totally measured species. These were Biebersteinia odora, Potentilla gelida, P. pamirica, P. sericea, P. sojakii, P. venusta, Poa attenuata, Ranunculus membranaceus and Stipa splendens. Most of the apomicts are known from previous studies or they have closely related apomictic species. Just Biebersteinia odora has no known related apomicts because of missing data about reproduction systems in this family. This results showed rather no affinity of apomictic species to high elevations; apomixis is more likely bound in taxonomically related groups. Our measurement provide extensive dataset to establish relative ratio of size of endosperm / embryo for individual families; this dataset may serve as valuable comparative material in following studies dealing with FCSS.
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Detection of microorganisms in the soil using CARD-FISH (Catalyzed Reporter Deposition - Fluorescence in situ hybridization)
Krištůfek, Václav ; Kasalický, Vojtěch ; Chroňáková, Alica ; Elhottová, Dana ; Němec, Jan
CARD-FISH protocol (Catalyzed Reporter Deposition - Fluorescence in situ Hybridization) for detection of soil microbial community composition was successfully established in the Institute of Soil Biology. CARD-FISH is the relatively new molecular biology tool permitting to quantify distinct groups of microorganisms by hybridization of specific oligonucleotide probes. Compared to classic FISH-protocol the probe-attached enzyme amplifies the fluorescent signal and enables to detect nearly all microorganisms in soil or in organic compounds. As the first, we used this method to determine the bacterial community composition of a dated layer of guano-heap from Domica Cave (Slovak Carst National Park, Slovakia). We quantified the percentuel composition of Archaea, Eubacteria (.i.Planktomycetales, Verrucomicrobiales./i. included) and major bacterial groups (Actinobacteria, proteobacteria, .i.Cytophaga-Flavobacter./i.-Bacteroidetes, Sphingobacteria).
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Genetic Aspects of Sporadic Ovarian Cancer
Jančárková, Natalia ; Freitag, Pavel (advisor) ; Rokyta, Richard (referee) ; Kohoutová, Milada (referee)
58 9. SUMMARY Molecular biological parameters, including genetic alterations, present new and perspective direction in diagnostics, prediction of prognosis, monitoring and possible therapeutic approaches in oncological disease. The results presented have to do with the project, which is concentrated upon chromosomal rearrangements in ovarian and cervical cancer and their correlations with available parameters of both molecular biological and clinical characteristics. Sixty patients with ovarian cancer and twenty patients manifesting cervical cancer were included into the study. The histological type and grade, MIB-1 and p53 (using immunohistochemical method) were estimated by histopathologist. Both conventional karyotyping and molecular-cytogenetic methods (fluorescent in situ hybridization and comparative genomic hybridization) were applied to reveal chromosomal aberrations. The results were subjected to statistical evaluation, using analysis of variances and χ2 test. There were correlated parameters of quantitative and qualitative character - age, stage, histological type, grade, CA 125 before and after treatment, MIB-1, p53, surgical residuum, lymphadenectomy, response rate, chromosomal rearrangements. Analyses accomplished in ovarian cancer group revealed typical amplifications on chromosomes 1q, 3q and...
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Hidden diversity and evolutionary trends in malacosporean parasites (Cnidaria: Myxozoa) identified using molecular phylogenetics
HRABCOVÁ, Martina
Malacosporeans represent only a minor part of the huge myxozoan diversity, accounting for more than 2000 species. In contrast to the remainder of the Myxozoa, malacosporeans cycle between vertebrate (fish) and invertebrate (bryozoans) hosts and are restricted to freshwater habitats. The present study applies light microscopy and molecular methods to scrutinize the morphology, prevalence, diversity, distribution as well as host and habitat preference of malacosporeans in fish hosts. Comprehensive phylogenetic analyses based on newly obtained malacosporean SSU rDNA sequences and those available in GenBank reveal important evolutionary trends in this group. The significant increase in malacosporean species richness unveiled in the present study points to a hidden biodiversity. Reasons for this cryptic species diversity, the potential existence of malacosporean life cycles in marine environment as well as the evolution of worm- and sac-like morphology in bryozoan host are discussed.
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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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Studium vlivu těžkých kovů na biochemický profil u vodních živočichů
Šanda, Radek
This work deals with study of thiol compounds (metallothionein) and the determination of its quantity in the tissues of rainbow trout (Oncorhynchus mykiss). This tissues of the fish were exposed to several concentrations of arsenic. Concentration of metallothionein was measured elektrochemically by using differential pulse voltametry (DPV) by using Brdička's reaction. Metallothionein, which is among the low molecular weight thiols has very strong detoxication effects. Determining of the concentration of this protein could be used to determine the quality and also the health of fish meat.
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