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National Repository of Grey Literature 1 records found  Search took 0.00 seconds. 
Molecular detection RYR1 gene mutation causing malignant hyperthermia in dogs
 Krausová, Klára ; Vejl, Pavel (advisor) ; Melounová, Martina (referee)
The theme of this work are methods for molecular detection of mutations in the dog genome causing malignant hyperthermia. The work is divided into two main parts. The first part is a literary research summarizing knowledge about malignant hyperthermia from the human and veterinary anesthesiology molecular biology and genetics. The second part of the work describes the methodology and conclusions drawn from the molecular detection of above mentioned mutation which was conducted in the laboratory of the Department of genetics. The literary research deal with malignant hyperthermia syndrome. The aim is to familiarize with symptomatic manifestations triggers the mechanisms the development of acute malignant hyperthermia and its clinical diagnosis. The first cases of observation of malignant hyperthermia syndrome are also described as well as the history of the research which led to a detailed description of this disease in humans dogs and other species bearing malignant hyperthermia causing mutation. The next part of literary research is a summary of knowledge about the mechanism of mutation the detection of sequences containing this mutation and influence on the arrangement of proteins in the ryanodine receptors. For the last part of literary research commonly used laboratory techniques of non invasive mutation detection were chosen. These techniques are mostly used by accredit genetics laboratories. Listing of Czech laboratories performing diagnostic of gene RYR1 mutation is also contained. Experimental part of barchelors thesis is focussed on molecular marker optimalization for casual mutation in RYR1 gene detection by technique of restriction fragment length polymorphism (PCR RFLP). This technique was apply to 338 deputies of different dog breeds. Accomplished analysis did not confirm presence of the mutated allele in assessed breeds population. Result of PCR RFLP technique was confirmed by sequence analysis. Results were discussed with literary sources which did not judge real breeds but are developing a model special bred line with presumed mutated allele segregation. The results indicated that the mutation of gene RYR1 do not represent an influential disorder in breeds harbored in Czech Republic. Sporadic presence of this mutation was consulted with commercial genetic laboratories.
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See also: similar author names
18 KRAUSOVÁ, Kateřina
18 Krausová, Kateřina
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