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Genetic Stuff
Dec. 7th, 2009 04:14 pmWe've just had a phone call from the doctors about Katies genetic autopsy and it turns out that she had a slight oddity in her genes; she had 5 duplicated genes on chromosome 21. As such, they would like to do blood tests on us to see whether either of us have this particular mutation.
Whilst this might sound a bit scary, the reality is less so: if either C or myself have this mutation, then its demonstrably not associated with heart conditions - as neither C nor I have a heart problem - and thus is within the bounds of 'normal' random things that you get in the DNA lottery. Contrary to popular belief, it is very rare to not inherit any dodgy genes from your parents, so, if proved, this would be run of the mill randomness, rather than anything significant.
On the other hand, if neither of us have this mutation (and this is more likely as C & I were tested previously and found nothing odd), then it means that Katies genetics were, simply put, the result of a random chance.
Neither of these outcomes will have any bearing on our ability to have children - if we have it, then its not associated with the heart condition, If we dont have it, then Katie just drew the short straw and it got included in her DNA.
The interesting issue is this: is this mutation associated with Hypoplastic Left Heart Syndrome? All her other genes were fine and this variation is not a classic indicator of heart problems, so it gives the doctors the ability to do some genuinely beneficial research that might possibly shed some light on this baby-killing disease.
I'm so proud of my daughter.
S
Whilst this might sound a bit scary, the reality is less so: if either C or myself have this mutation, then its demonstrably not associated with heart conditions - as neither C nor I have a heart problem - and thus is within the bounds of 'normal' random things that you get in the DNA lottery. Contrary to popular belief, it is very rare to not inherit any dodgy genes from your parents, so, if proved, this would be run of the mill randomness, rather than anything significant.
On the other hand, if neither of us have this mutation (and this is more likely as C & I were tested previously and found nothing odd), then it means that Katies genetics were, simply put, the result of a random chance.
Neither of these outcomes will have any bearing on our ability to have children - if we have it, then its not associated with the heart condition, If we dont have it, then Katie just drew the short straw and it got included in her DNA.
The interesting issue is this: is this mutation associated with Hypoplastic Left Heart Syndrome? All her other genes were fine and this variation is not a classic indicator of heart problems, so it gives the doctors the ability to do some genuinely beneficial research that might possibly shed some light on this baby-killing disease.
I'm so proud of my daughter.
S
