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Studium dědičnosti polyneuropatie u psů plemene leonberger
Wolfová, Anna
The main objective of this master thesis entitled The study of polyneuropathy in Leonberger dogs (LPN) was to determine the variability of ortholog of CMT2 gene in a selected population of this breed. The number of individual samples studied was 211. The entire set of DNA samples was divided to the cases (110 samples) and controls (101 samples). Partial objectives were the study of information available on the hereditary neuropathies, the selection of candidate gene polymorphisms and their association analysis with the disease. The candidate gene studied is associated with the autosomal recessive form of axonal neuropathy in humans with early onset of symptoms. Compound mutation was discovered in the gene (substitution and 1 bp deletion). The normal allele predominated in healthy individuals. In contrast, both mutant alleles always predominated in diseased individuals. Statistical comparison of genotypes depending on the health status did not show a clear correlation with disease (p = 0,1562).
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Analýza výskytu vybrané dědičné choroby očí u psů
KUBIČKOVÁ, Miroslava
Progressive rod-cone degeneration (PRCD) is the late form of progressive retinal atrophy (PRA). It is an autosomal recessive hereditary retinal defect. This disease in dogs is consistent with one form of retinitis pigmentosa (RP) in humans. Phenotypic manifestations are identical and it is known to be an identical causal mutation. A study of this defect in dogs could also explain a lot in human medicine. The gene for PRCD was mapped in the region of centromer of the canine chromosome 9 (CFA9). In this thesis, genotyping of 120 dogs of different breeds and age was performed. Most represented a breed of English Cocker Spaniel which is predisposed to the disease. Analysis PRA-PRCD was performed by molecular genetic methods PCR-RFLP and the horizontal agarose electrophoresis. Genotypes were determined on the basis of different fragment lengths. The normal allele was 396 bp in length and the mutated allele had a length of 116 bp. Presence of mutated allele was only detected in 25 heterozygotes carriers which were usually breeds with this predisposition. Frequency of the mutated allele was 10.4 %. In the selected population 20.8 % of heterozygotes were represented. The results of the study show approximately one fifth of the tested dogs are heterozygous carriers. Findings of other studies confirm there are generally more heterozygotes than homozygotes in which the disease is manifested during life. However, if this fact is not clearly taken in consideration, the number of sick dogs can rapidly increase during short period of time. In the future, it would be appropriate to adopt measures which would definitely eliminate the occurrence of the mutated allele. These measures could include genetic tests that reliably reveal hidden carriers (heterozygotes) in predisposing breeds. Heterozygotes may increase the representation of this allele in the population. This leads to an increase in the number of diseased animals.
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Dědičné choroby psů vázané na pohlavní chromozomy
ČÍŽKOVÁ, Pavla
The thesis sumps up the most important and the most often diseases linked to sex chromosomes. The beginning of the work describes genetic information of dogs also mutations connected to genetic diseases and distribution of the genetic illnesses itself. The thesis follows with heredity of characters connected with sex and the origin of X and Y chromosom. The last part of the thesis describs the illnesses, symptoms, genetic backround, diagnostics and treatment.
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