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Thread: Can anyone explain these genes?

  1. #1
    Senior Member
    Join Date
    Dec 2009
    Posts
    120

    Can anyone explain these genes?

    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.

  2. #2
    Senior Member
    Join Date
    Feb 2006
    Posts
    144
    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!

  3. #3
    Quote Originally Posted by AttyMom View Post
    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.

  4. #4
    welshwitch
    Guest
    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.

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