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What is it when enviornment can "hide" a genetic disorder


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Posted

This has been driving my crazy the last 2 days. I can't find it on Google, cause I dont know the exact question to ask..and my friends dont know either. What is the genetic term that states: an individuals genetic disorder can be somewhat hidden if their enviornment provides the necessary factors that they are deficient in.

 

For example: I have a genetic disorder where I cannot make metabolite A, but in my enviornment, my diet provides metabolite A, so my effects of my genetic disorder are not very apparent.

 

Any guesses?

 

~EE

Posted

Good answer. It shows how important frames of reference are. For example, in a population where the vast majority would be able to synthesize a compound but say a few lack that ability and it results in a given disease phenotype, one might call it a disorder. How it is called is more dependent on the phenotype (or symptoms if you will) than the actual biochemical pathways.

In microbes one would call it auxotrophy.

If, however, the responsible allele is similarly common or even more common than the intact variant and there is no obvious disease phenotype (due to nutrition), it generally would not be classified as a disorder.

 

A simple example is lactose intolerance, which can be considered the "normal" phenotype (as a mutation allows it to remain active during adulthood) and is not considered to be a disorder, despite the inability to perform a specific metabolic step.

Again, in biology context is extremely important.

Posted

My genetic inability to breathe underwater is generally hidden by the presence of land in my environment.

My goldfish has a different outlook.

 

I think there's a related genetics notion called masking or some such.

Posted

Good news! I found out the answer. It was a combination of me not knowing the answer and how to phrase the question properly.

 

The answer is "haploinefficiency"...where essentially half the gene is functional (for lack of a better term), and the other half is not functional. Sometimes, the environment can provide relief such as diet to lessen the effects of the half-gene efficiency, so the person with the disorder does not know they have it.

  • 1 month later...

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