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Detection MDR1 mutation in shepherd dog breeds by loop mediated isothermal amplification and restriction analysis
VYHLÍDALOVÁ, Nikola
Multiple drug resistance is caused by MDR1 gene mutation. It is a common genetic disease of Shepherd Dogs from which Collie breed is the most affected. Described mutation is caused by deletion of four nucleotides, which leads to a frameshift and premature termination of synthesis of the P-glycoprotein, one of the important transport proteins of some drugs. Synthesized non-functional P-glycoprotein is unable to eliminate drugs from the brain, which leads to a neurotoxic problems in affected dogs. The theoretical part describes structure and function of P-glycoprotein and its inhibition caused by MDR1 coding gene mutation. The most commonly affected breeds are subjected to analysis as well as the problem of drugs for dogs with this mutation. Review also includes a description and principle of methods used for detecting mutation of MDR1 gene. The aim of this thesis was to optimize and screen DNA samples of Shepherd Dogs for the MDR1 gene mutation by LAMP and PCR-RFLP as well as by mutual comparison of both methods. The empirical part presents the results of the study. The studied population consisted about 140 samples of Shepherd Dogs DNA. Our results confirmed the highest incidence of recessive homozygotes in the tested population of Smooth Collie (25 %). Moreover, the number of heterozygous was also the highest in this breed (50 %). However, the number of heterozygous dogs in the tested population of German Shepherd was surprisingly comparable with population of Smooth Collie, because it reached 49 %. Equal number of the German Shepherd was dominantly homozygous. Whereas, the highest number of healthy dogs was found in the tested population of Border Collie breed (65 %).
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Detekce polymorfismu v genu MDR1 u ovčáckých a honáckých psů
Staroveská, Marieta
This thesis is focused on polymorphism of MDR1 gene and related drug resistance. Resistance is caused by deletion of four nucleotids, that resulting in a frame shift and synthesis of nonfunctional transport of P-glycoprotein. The text describes a polymorphism of MDR1 (ABCB1) gene, which results in reduced resistance to drugs belonging to the group of macrocyclic lactones. It also describes inheritance of this phenomenon and it deals with the detection of mutation using PCR (polymerase chain reaction) and by fragmentation analyses. A review of literature study is a form of research solely from scientific publications. 128 dogs were included into the own analysis. The results confirmed that Collies had the highest presence of deletions (29,73 %) with a high number of carriers in the study population of dogs (54,05 %). The percentage of affected individuals in the breed of Australian Shepherd and Sheltie was significantly lower (7,32 % and 6 %), but the percentage of carriers were also high in both Australian Shepherds (34,14 %) and the breed Sheltie (48 %).
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Mutace genu v MDR1 u psů ve vztahu k citlivosti na léčiva
Patermannová, Veronika
This work deals with the multidrug resistance gene (MDR1), its structure, function, localization on dog's genome and especially its dysfunction in case of mutation. Work gives information about heredity of mutated alleles MDR1 gene, detection mutation using polymerase chain reaction (PCR). Information are written as a literature review and were drawn from scholarly articles. On base these articles was created summary of frequency all genotypes MDR1 gene in dogs in Czech Republic and foreign countries.
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