Genetic monitoring for severe combined immunodeficiency carriers in horses in Slovenia
2005
Zavrtanik, J., Ljubljana Univ. (Slovenia). Veterinary Fac. | Mesaric, M. | Majdic, G.
Severe combined immunodeficiency disease (SCID) is an autosomal recessive trait affecting purebred and mixed breed Arabian horses. Similar diseases exist in humans, dogs and mice. First immunodeficiency with characteristics of SCID in Arabian horses was reported around 1960 in Australia. The disease was described as a syndrome in 1973. The disease prevents the production of functional lymphocytes in affected individuals, which leads to a complete loss of humoral and cellular immune response. The defect is a result of a genetic mutation (5 bp deletion) in a gene encoding DNA dependent protein kinase C (DNA-PKc). As SCID is recessive autosomal disease, clinical signs are present only in offspring from mating between two heterozygous carriers of the SCID mutation. Heterozygous carriers are asymptomatic, but can be detected by genetic testing. To identify the normal and mutant versions of the DNA-PKc gene, blood samples were collected from all Arabian horses in Slovenia and DNA extracted from the samples. The specific sequence of DNA-PKc including 5 bp deletion causing SCID was amplified using polymerase chain reaction (PCR) and the size of amplified DNA band was determined on a 4 % agarose gel. After successful amplification and interpretation of the DNA sequences, only negative results were found. We can therefore conclude that at present time there are no carriers of the mutation in DNA - PKc in Slovenia.
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