Sentences with phrase «incomplete penetrance»

The phrase "incomplete penetrance" refers to the situation when a genetic trait or disorder does not always appear in individuals who carry the gene or mutation associated with it. In other words, not everyone who has the gene will show the traits or symptoms of the gene. Full definition
Inheritance with incomplete penetrance means that other factors — other genes, gene regulators, and / or environment — are involved in the process that determines whether cataracts do or do not develop in any particular dog.
Incomplete penetrance of a defect greatly complicates the determination of mode of inheritance.
However, incomplete penetrance means that a dog that has this mutation will not always develop HC.
There are further complications, such as incomplete penetrance, signs of X-linked disease in carrier females, and even a rare report of digenic inheritance.
The parent of an affected animal can be also be affected, due to the high gene frequency (thus, the apparent dominant inheritance), but this is not always the case (thus, the apparent incomplete penetrance).
Not all affected breeds will be at risk to develop the DCM due to the fact that it shows incomplete penetrance (does not show sign of disease despite having a copy of the mutation).
However, if it is found to have incomplete penetrance genetically, it would still be possible for a dog to transmit the PHPV mutation without itself showing symptoms.
The mode of inheritance for most Aussie cataracts is dominant with incomplete penetrance, meaning not every dog with the mutation will develop cataracts though 70 % of those with cataracts have it.
Because of incomplete penetrance — because of healthy elderly carriers like Shonnie Medina's grandmother, Dorothy — the risk of cancer from 185delAG and other BRCA mutations must be expressed in terms of probability.
Incomplete penetrance, genetic heterogeneity, pleiotropy, and gene - environment interactions are just some of the factors that make even studies of relatively simple genetic diseases challenging.
The disease is referred to as having «incomplete penetrance».
It must be noted however that a subset of PRA - affected Italian Greyhounds in the study carried only one copy of the IG - PRA1 risk allele, suggesting that the disease may represent a mode of inheritance called «Autosomal Dominant with Incomplete Penetrance» (ADIP).
It is not known at this time whether the PRA observed in a minority of Carriers of the IG - PRA1 risk allele is due to another, as yet uncharacterized, form of PRA or whether IG - PRA1 is inherited as a dominant trait with incomplete penetrance.
It should be noted that the human disease that mirrors CMR in dogs is an autosomal dominant disease with incomplete penetrance.
In fact, many of the mutations that Embark screens are known to have incomplete penetrance, meaning even if a dog is «At Risk» for a condition doesn't mean that it's a done deal and the dog will develop the health condition.
An autosomal recessive mode of inheritance, with incomplete penetrance and a possible sex - predilection, most simply explains the segregation of epileptic dogs in the pedigrees examined.
A problem with some autosomal dominant disorders is incomplete penetrance.
This genetic mutation has a characteristic called «incomplete penetrance», which means that even if a dog has the mutation it may not penetrate and result in development of the disease.
Most, though not all inherited cataracts in Aussies appear to have be dominant with incomplete penetrance.
The mode of inheritance for most Aussie cataracts is dominant with incomplete penetrance, meaning not every dog with the mutation will develop cataracts.
Genes for diseases like this are often said to have incomplete penetrance.
To further complicate the picture, the Aussie mutation is not a simple dominant; it is dominant with incomplete penetrance.
Another type of gene that has incomplete penetrance is the risk factor gene — a gene that will significantly increase risk of having the disease.
The mode of inheritance is most consistent with «autosomal dominance with incomplete penetrance
Another way to describe this type of inheritance is «autosomal dominant with incomplete penetrance» or «incomplete dominance».
At present there is no documentation that incomplete penetrance is a factor in any canine deafness, except perhaps that deafness can affect one or both ears.
All of the above assumes that incomplete penetrance is not acting.
These findings might be explained by a multi-gene cause - the presence of two different autosomal recessive deafness genes, or a syndrome with incomplete penetrance.
This is an autosomal dominant disorder with incomplete penetrance, which means that individuals that inherit the disorder may not show all components of the syndrome - i.e., they may not be deaf.
Mode of inheritance is unknown at this time, although some believe that it is autosomal dominant with incomplete penetrance.
Essentially, what happens in utero to cause this is when a kitten inherited the autosomal dominant trait of the ZRS cic element of the PD gene with an incomplete penetrance.
The mode of inheritance is unknown, but suspected to be either autosomal dominant with incomplete penetrance, or autosomal recessive.
Dogs classified as having mild CM showed signs of affliction, but the incomplete penetrance of the phenotype makes it impossible to include them in the affected category.
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