As research advances, scientists hope to determine the precise location of a given gene so they can test entire populations to
identify carriers of the disease gene.
Not exact matches
«We used different lines
of evidence to show that ANGPTL3 deficiency is associated with a reduced risk
of coronary artery
disease,» said study co-author Kiran Musunuru, MD, PhD, MPH, an associate professor
of Cardiovascular Medicine at Penn. «But ultimately we were able to
identify that fact that
carriers of this genetic mutation did in fact experience a benefit — with little other health risk.»
Individual screening tests can already
identify silent
carriers of many single faulty recessive genes — the kind that, when inherited in double (one copy from each parent), can lead to conditions such as cystic fibrosis and Tay - Sachs
disease.
It is the first endangered species for which a test to
identify carriers of a genetic
disease has been established.
Heterozygous deficiency
of APOC3 has been shown to protect against coronary heart
disease; we
identified APOC3 homozygous pLoF
carriers in our cohort.
Consequently, despite the fact that it can not
identify the «
carrier» status, examination
of tissues obtained by means
of a liver biopsy still remains the method for positively diagnosing the
disease, i.e.
of identifying affected dogs.
While the diagnosis
of retinal degeneration is made by ophthalmoscopy and / or electroretinography, genetic testing for PRA can be useful for breeders to
identify not only affected animals, but those that are genetic
carriers for the
disease.
Both OptiGen and Paw Print Genetics offer inherited
disease testing to
identify carriers and affected dogs for a variety
of different canine genetic conditions.
A diagnostic test
of urine for elevated level
of L -2-HGA can be used to
identify dogs affected by the
disease, but it does not allow for the detection
of carriers.
Recently, it has become possible to
identify presymptomatic dogs or
carriers for a small number
of inherited
diseases in a few breeds using molecular genetic tests.
It is not always possible to prevent the occurrence
of inherited
diseases, as there are not yet definitive tests to
identify carriers of genetic
diseases.
With regard to breeding, it is important to
identify genetic
carriers of von Willebrand's
disease.
Since
carrier cats remain healthy though, and since affected cats may not necessarily be detected until they are a few years
of age, the potential exists for both
carrier and affected cats to have significant numbers
of litters before the
disease is
identified.
Where possible, DNA tests are being developed for each
disease so that breeders can
identify carriers of conditions and make responsible decisions to help ensure that future generations are not affected.
The FWCC itself acknowledges the following: cats are the most common
carriers of rabies among domestic animals, and can transmit rabies to wildlife such as raccoons, skunks an foxes; feline leukemia virus, a leading cause
of death due to infectious
disease in cats, has been reported in a mountain lion, a close relative
of the endangered Florida panther; domestic cats were
identified as one possible reservoir host for feline panleukopenia, which has been discovered in the Florida panther.