POMPES
Pompe disease is a lethal inherited genetic disorder leading to acid maltase deficiency. This leads to a buildup of glycogen in muscle and nerve cells and impairs normal tissue function. Pompes is an autosomal recessive disease which means affected animals need to have inherited a mutant allele from each parent (for more information, please visit https://simbranews.co.za/2022/08/23/pompes-generalised-glycogenosis/ ). There are two variants of this mutation (E7 and E13). Both the Unistel and Neogen pipeline produce results for pompes are reported as follows:
- Unistel:
- Clear – the animal is not affected nor a carrier for that variant.
- Carrier – the animal is a carrier for that variant.
- Affected – the animal is affected for that variant.
- Neogen:
- N – not affected (the animal does not have the mutation and is not a carrier for that variant).
- C – carrier (the animal is phenotypically normal but may pass the mutant allele for that variant on to offspring).
- A – affected (the animal has inherited a mutant allele for that variant from both parents and has the disease).
Eye Disorders
Infectious bovine keratoconjunctivitis (pinkeye) resistance is only reported via the Unistel pipeline. Animals that carry the mutation offer a percentage more resistance to developing pink eye in comparison to animals that do not carry the mutation. It is reported as a percentage of reduced risk.