Because the congenital cataract was found to be a simple autosomal recessive gene and could be identified so early in life, the Miniature Schnauzer people organized a way to
identify carriers of the gene through test breedings.
The ability to
identify carriers of the gene for PRA by a blood test will be a tremendous aid to dog breeders.
Not exact matches
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.
Children, siblings or parents
of mutation
carriers have a 50 - 50 chance
of also having the mutation, which can be
identified with a
gene test.
But the team cautions against screening for the
gene and others like it to
identify potentially violent and impulsive individuals, because only a fraction
of carriers turn to violence.
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.
Carrier testing
of patient's partner for the specific
gene / genetic condition
identified to further clarify risk
of having a child with the recessive disorder
Tests may be ordered specifically looking for
carrier status,
identifying people who carry one copy
of a
gene variant that can be passed on to a child.
In the 1980s, her research group
identified genetic markers that allow prenatal diagnosis and
carrier status determination
of DMD, and mapped the
gene coding for DMD to a specific location on the X chromosome.
Researchers have
identified the
gene mutation that causes NEwS, and a DNA test is now available that allows breeders to avoid producing affected puppies by never breeding two dogs to each other if they are both
carriers of the abnormal
gene.
When dealing with common breeds involving large, diverse
gene pools,
identified carriers can be eliminated with small risk
of adversely narrowing the
gene pool.
The test
identifies dogs that are clear and have two normal copies
of the
gene,
carriers who have one normal copy and one mutated copy, and those who are at much higher risk for developing DM because they have two mutated copies.
In breeds with small
gene pools, as is the case with many pure breeds, elimination
of identified carriers may not be the best strategy, as genetic diversity would become dangerously compromised.
It was stated, «A fallacious use
of the closest common ancestor analysis is to
identify the ancestor as a
carrier of the defective
gene.
A fallacious use
of the closest common ancestor analysis is to
identify the ancestor as a
carrier of the defective
gene.
The purpose
of Dr. Gustavo Aguirre's research is to
identify the
gene and mutation responsible for inherited cataracts in Cocker Spaniels, and subsequently, to develop a genetic test that can
identify genetically normal, affected, and
carrier dogs.
The test clearly
identifies dogs that are clear (have 2 normal copies
of the
gene), those who are
carriers (have one normal copy
of the
gene and one mutated copy
of the
gene), and those who are at much higher risk for developing DM (have 2 mutated copies
of the
gene).