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).
| Identifer | oai:union.ndltd.org:nusl.cz/oai:invenio.nusl.cz:362655 |
| Date | January 2016 |
| Creators | Wolfová, Anna |
| Source Sets | Czech ETDs |
| Language | Czech |
| Detected Language | English |
| Type | info:eu-repo/semantics/masterThesis |
| Rights | info:eu-repo/semantics/restrictedAccess |
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