|
|
Detection of VPS13B gene mutation responsible for trapped neutrophil syndrome in selected dog breeds used for assistance activities
Zemanová, Lucie ; Vejl, Pavel (advisor) ; Melounová, Martina (referee)
This bachelor thesis Detection of VPS13B gene mutation responsible for Trapped neutrophil syndrome in selected dog breeds used for assistance activities starts with theoretical part and continue with experimental part, which had done in Department of genetics and breeding.
The theoretical part is focused on Trapped neutrophil syndrome and Cohen syndrome. Both of theese syndromes are caused by mutation of same gene and this is the reason, why a dog is a suitable genetic model for human disease research. Based on the theoretical part is obvious that Trapped neutrophil syndrome is a autosomal recessive genetic disease and is caused by deletion of 4 bases (GTTT) on 13th chromosome in 19th exon. This mutation is only in border collie breed. The Trapped neutrophil syndrome causes very serious problems and for individuals theese problems may be letal. If they survive, they have a very poor quality life. They have diarrhoea, pyrexia, vomite and have a typical facial ferret-like snout.
The experimental part is focused on isolation DNA from buccal mucosa of border collie breed, golden retriever, labrador retriever and Nova Scotia duck tolling retriever, than it is focused on design PCR markers and sequencing PCR amplicons.
The experimental results had confirmed hypothesis that the causal mutation is affected by pedigree and it is easy to identificate it by sequencing PCR amplicons.
|
guest ::
