Genetic Mutation

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azdesertrat

New member
Yesterday, the nurse from my CF Pulmonoligist called.
She gave me the results of my genetic testing.
It seems my mutations are DF508-CFTR.
I've never heard of CFTR before. Apparently it is a faily uncommon gene. Lucky me!
People with the CFTR gene have excessive pancreatic deficiency.
Boy, I can sure vouch for that, as I sit hear typing & enduring yet another day of cramps & abdominal pain.
I don't know it this changes anything, I kind of doubt it, but at least I know what caused me to have CF.
 
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Guest

Guest
I was going to say...we all have CFTR. It's the CFTR's fault we have CF.
 
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Guest

Guest
CFTR stands for 'Cystic fibrosis transmembrane conductance regulator', its this CFTR gene that carries the many mutations of which DF508 is one. My son has DF508 and RH117.
Many CFers dont always find their second gene mutation, the DF508 is the most common mutation.
 
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azdesertrat

New member
OK- I get that, thanks.
I have the genetic report and it is very technical & hard to read.
The only things I could get from it is I have DF508 & CFTR2.
So- is CFTR2 the 'other' mutation?
My CF doc's 'Main Lady' told me that there are only 8 people on the planet with the same combination of mutations, for whatever reason.
She also told me that I'm th only person to survive past age 12 with this combination of mutations.
So is somebody blowing smoke up my ass?
I'd like to know what the significance of all this gene-typing really is.
What difference is this going to make in my day-to-day life?
Any help provided is very much appreciated.
 
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