The children of two deaf parents with two different
recessive deafness can be unaffected but carry both genes.
Theoretical outcomes of breeding a carrier and an affected dog with
the recessive deafness gene.
In
the recessive deafness model, gene therapy with TMC1 restored the ability of sensory hair cells to respond to sound — producing a measurable electrical current — and also restored activity in the auditory portion of the brainstem.
However, Holt's study also showed that gene therapy with TMC2 could compensate for loss of a functional TMC1 gene, restoring hearing in
the recessive deafness model and partial hearing in the dominant deafness model.
Not exact matches
What they did not know was that two of them carried a
recessive gene for congenital
deafness.
There are at least six genes that look to be under positive selection in cats that are associated with hearing capacity; we know this because mutations in these genes cause nonsyndromic
recessive hearing loss or
deafness.
In 1997, he contributed to the development and validation of the OLA - PCR cystic fibrosis diagnostic panel commercialized by Applied Biosystems, and to the identification of the autosomal
recessive neurosensory
deafness connexin 26 gene.
Genetic transmission of
deafness in dogs with the
recessive alleles of this pigment gene, such as the Dalmatian (which is homozygous for sw), is less clear.
If
deafness is carried as a theoretical simple autosomal
recessive gene (d), the breeding of two hearing carriers (Dd)(Table 1) will result, on average, in 25 % affected dogs (dd), 50 % hearing carriers (Dd), and 25 % free of the defect (DD).
In humans more than 50 different autosomal
recessive or dominant
deafness genes or loci have been identified.
Vestibular (balance) system signs, including head tilt and circling, are seen, and the
deafness, which is usually bilateral, is transmitted by a simple autosomal
recessive mechanism.
In this case the
deafness is neither dominant nor
recessive, but is linked to a dominant gene that disrupts pigmentation and as a secondary effect produces deaf dogs.
If more than one gene (
recessive and / or dominant) is involved in producing the
deafness, the possible combinations become much more complicated.
The result of two negative
recessive genes combining is a real health problem — the kind of problems we are increasingly seeing in Kennel Club dogs: epilepsy, dysplasia,
deafness, congenital skin conditions, heart murmurs, cataracts, polyarthritis, progressive renal atrophy, allergies, hypothyroidism, and Cushing's Syndrome, to name a few.
Recessive genetic disorders (such as
deafness) are only expressed as full diseases when an individual dog carries two defective copies of the gene.