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Rabe, Christina Julia Verena Stephanie (2009): Katalogisierung von Phänotypen, Genotypen und Gentests molekulargenetisch charakterisierter Erbfehler beim Haushund (Canis familiaris). Dissertation, LMU München: Faculty of Veterinary Medicine
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Abstract

SUMMARY The scope of the present work was to provide an scientific overview of the actually state of canine genetics of hereditary diseases. Causative mutations, inheritance modes, breed disposition and incidence of the single genetic defects in the affected dog populations have been outlined. Additionally a special focus aims on the gathering of actually available genetic tests for respective hereditary diseases within different dog breeds. The present state of science covers 76 genetically characterized hereditary diseases of the dog (status: January, 2009). Their inheritance mode, genetic basis, pathophysiology, breed dispositions and genetic control are shown here in detail. Up to date, 61 DNA tests are available for canine hereditary diseases. A compendium of the actually available genetic tests for the affected breeds with different suppliers is included in the appendix of this work. In the sector of genome analysis and screening tests for dogs, high research activity can be observed. This contributes to the specific suitability of the species dog as an animal model for the investigation of human hereditary diseases. The partial considerable inbreeding of some dog breeds leads to the appearance of numerous monogenetic hereditary diseases which are mostly of recessive nature. In addition, research results of the last few years demonstrate that these diseases are phenotypical or even genotypical homologues to human hereditary diseases. The number of the dog´s identified genetic mutations, which are connected to hereditary diseases, has increased in the past years and will increase continuously in the next years. An application of the enlarged genetic research results is as well of interest to the human medicine, as to the stockbreeding. The application of molecular-genetic screening methods offers dog breeders the possibility to determine the genetic status of their breeding dogs, to select healthy animals and to minimize future hereditary defects. The incidence of hereditary diseases can be reduced using genetic screening tests on the breeding dogs before breeding, introducing DNA of breeding dogs from other populations and avoiding the inbreeding within different pedigrees of dogs. Since a couple of years numerous screening and breeding programmes and the generation of genotype data banks are an obligation within many associations of dog breeders. This might accelerate an offbreeding of hereditary defects. The rising quantity of genetic screening tests and further investigation of undecoded mutations, will allow researches to amplify the understanding in the wide field of the polygene diseases. Relieving the succeeding generations of pedigree dogs from monogene and polygene hereditary sufferings is the future aim.