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Detection of mutation HSF4 causing hereditary cataract in sheep dogs
VOKÁLKOVÁ, Lenka
Hereditary cataract belongs amongs the most common diseases of the eye with the shepherd dog breeds. It is a very serious disease, which causes the deterioration of sight of the dog. With the neglection can the illness cause even blindness. Heteritary cataract manifests itself with bilateral turbidity of the eye. Course of the illness differs and the beginning of the sickness can start at any age of the dog. The formation of the cataract can be the result of another eye disease or the in jury of the eye. In this case it is a secondary cataract.Primary cataract is directed by genes. Candidate gene for the formation of the hereditary cataract is the HSF4 gene. This gene include an important role in the immunity system. It encodes proteins of the thermal shock, that protects the cell from adverse effects of the outer environment, like high temperatures or UV rays. Besides that it also cantributes to the development of the eye lens fibers. Mutation in the exon of the gene HSF4 causes the degradation of these fibers, hence cataract. Hereditary cataract is a serious illness, which must be cured by surgical implantation of the eye lens. Therefore, timely diagnosis and decommission of affected individuals from the breed, that the transfer of the ilness to the next generation will be prevented. I deal with the detection of a mutation in the HSF4 gene causing cataracts in my diploma thesis. I have chosen the fragment analysis as the most suitable method for detection of the mutation in the gene HSF4. The mutation is in the insertion of one nucleotid C. Fragment analysis can determine very precisely the mass of the DNA molecule and permits to differ even a fragment, which differs only in one base. In the practical part of the thesis were examined 100 samples of the dogs of breeds australian shepperd, border collie, german shepherd and long ans short haired collie. Only one of the dogs was evaluated as the carrier of the hereditary cataract. It was the dog of the australian shepperd breed. Three of the samples were non evaluable, caused by wrong sampling or degradation of the DNA. The rest of the evaluated dogs (96 samples) were healty.
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