Page 6 - Equine Matters - Winter 2014

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Equine
Genetic
Diseases
Genes are comprised of a DNA sequence,
which dictate a code for making proteins
involved in cell structure and function. Where
there is a significant change in the code,
like a spelling mistake, a defective protein is
produced. This change is called a 'mutation',
and the defective protein produced results in
a change in protein function and signs of
disease. Mutations may occur on a single
gene or on several genes to cause disease;
the latter are more common.
If the mutation is present within the germ line
cells then the genetic disease is hereditary;
germ cells are involved in passing genetic
material from parents to offspring. This has
led to the development of genetic tests using
blood samples or hair plucks to identify carriers
and avoid breeding more diseased individuals.
Considering the familial potential for
genetic disease we can appreciate how
certain traits are associated with particular
breeds: Lavender Foal Syndrome in Arabian
horses, Foal Immunodeficiency Syndrome
in Fell ponies, Polysaccharide Storage
Myopathies in Quarterhorses for example. In
order to produce certain breeds of horse, we
have maintained genetic disease traits which
were part of the foundation herds.
Aimi Duff BVM&S MRCVS
Scott Mitchell Associates
Veterinary Surgeon
Aimi Duff
XLEquine Practice
Scott Mitchell
Associates
5
EQUINE MATTERS
GENETIC DISEASES
Genetic diseases occur in all species and are due
to changes in an individual's DNA sequence.
Collecting a hair sample for DNA analysis