
Testing of cats: ALPS
Related tests
- Combination British Shorthair ALPS + Myotonia + PKD + Blood Group DNA test + Copper coat color + pd-PRA
Autoimmune lymphoproliferative syndrome in british shorthair cats
ALPS is a condition characterized by proliferation of lymphocytes (white blood cells) due to a disorder of physiological cell death. Excessive numbers of lymphocytes lead to the development of autoimmune disorders. The disease develops in kittens from birth until weaning at the latest, and the manifestations include marked generalised lymphadenopathy (enlargement of the lymph nodes), splenomegaly (enlargement of the spleen) and haemolytic anaemia.
The disease is caused by the c.418dup mutation in the FASLG gene, which encodes the TNF (tumour necrosis factor) ligand. The mutation leads to a shift in the reading frame and premature inclusion of the stop codon. The result is a defect in molecular signalling during apoptosis (programmed cell death).
The mode of inheritance of the mutation is autosomal recessive. This means that only individuals who inherit the mutated gene from both parents will develop the disease. Carriers of the mutated gene are clinically healthy but pass the mutation on to their offspring. In the case of a mating between two heterozygous individuals, theoretically 25% of the offspring will be completely healthy, 50% of the offspring will be carriers and 25% of the offspring will inherit the mutated gene from both parents and will therefore be affected by the disease.
The genetic test can clearly reveal the genotype of the animal and is a useful tool for breeders to prevent unintentional breeding of affected kittens.
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References:
Aberdein, D., Munday, J.S., Gandolfi, B., Dittmer, K.E., Malik, R., Garrick, D.J., Lyons, L.A. : A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. Mamm Genome 28:47-55, 2017. Pubmed reference: 27770190