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mysticrose
01-23-2014, 02:15 PM
We just had our daughters genetics rerun and her unidentified gene has been identified. She has N1303K which we knew, and del e22-23 which was the unidentified gene. The cf doc said that the second gene is along the same lines as deltaf508. Aside from that and telling us they are rare he didn't have much information. I was just wondering if anyone here has these genes and what you might know about them.

Jen. Mom to 3 kids w/cf and 1 lucky red head.

AttyMom
01-24-2014, 10:10 AM
If you have a smartphone, download the app "CF GeneE" which was created by Vertex Pharmaceuticals.

It does not have all existing mutations listed (only the N1303K of yours is included in the app), but it is helpful with graphics and explanations.

Hope it helps a little!

CFParent2
01-24-2014, 10:38 AM
If you have a smartphone, download the app "CF GeneE" which was created by Vertex Pharmaceuticals.

It does not have all existing mutations listed (only the N1303K of yours is included in the app), but it is helpful with graphics and explanations.

Hope it helps a little!

You might want to focus on the known gene first N1303K. Typically, outcomes are tied more to their best functioning gene. If the other operates like D508 it would likely be the worst functioning gene. For example, I have D508 but my other gene is normal so I am only a carrier without symptoms.

welshwitch
01-24-2014, 11:44 AM
I have N1303K!

I have tried to do research on my genes for many years....and sadly haven't dug up much, aside from the fact that it's rarer than D508. But I'm a 34 year old with 100% lung function (which I work HARD to maintain)...I'd like to think it's both my CF genes and some unidentified modifier genes that keep me healthy.