Are my kids mutants?
Apr. 25th, 2002   5:14pm

I keep seeing references to CAH being a "mutation" or certain variations of chromosomes being a "mutation" and I wanted point out something.

The term "mutations" is what geneticists use in reference to variations, within the genes, from what is considered "normal". There is no evidence that these variations have been caused or the genes "mutated" by anything, rather than already being present in the virtually unlimited amount of information contained in DNA. Some studies have shown certain health benefits assciated with being a CAH carrier, (somewhat like sickle cell anemia carriers tend to be immune to malaria) so CAH may very well be the negative side effect of a survival mechanism built into human DNA, rather than a "coding error".

You could look at it like this. Let’s say a large tribe of natives in Borneo, 1000 years ago of 1000 members had 20 members that carried a gene that made them immune to malaria. But if any of those bred with each other, then the offspring had a 25% chance of being born with sickle cell anemia, at that time a fatal condition. If conditions are normal, the gene gets passed around via carriers with the occasional child being born with SCA. Suddenly malaria sweeps the tribe. Now only those 20 that had the gene are left alive. Had they not had the gene, the entire tribe would have been wiped out. So they live on, but many of their children are born with SCA. Over many generations, the gene, being recessive, is once again reduced, but is there ready, in case the tribe is against hit with an outbreak of malaria.

Such conditions, while unpleasant for us who have to deal with it, would allow a survival mechanism in case of certain deadly contagions. The mortality rate, because of the gene, would be spread out over time, rather than concentrated in one time and place, and allow the group to survive. Obviously this gene, this variation, isn’t a mistake, but serves a purpose.

I find the use of the term "mutation" to describe these variations by geneticists to be short sited. To assume variations are mistakes is wrong. It also is the philosphical basis for racism. Different does not equal bad.

Danny Carlton
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