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  • Q&A with Australian Health Practitioners

    Is there a gene associated with cystic fibrosis?

    Related Topics
    Cystic Fibrosis Respiratory Health
    My husband and I would like to start trying for our first child and were wondering if this is a genetic condition?
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  • Miraa Best

    Social Worker

    The most common CF gene mutation, Delta F508, causes the most common CF symptoms, but this mutation can vary in how severely it affects someone with CF.
    There are more than 1,000 different mutations of the CF gene.

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  • Miraa Best

    Social Worker

    Yes it is a genetic condition. You are your husband can both be tested to see if you are Cystic Fibrosis carriers.

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  • Dr Simon Easterbrook-Smith

    Health Professional

    My research interests include immunology and the mechanisms of amyloid formation. The latter has implications for people who are dealing with Alzheimer's Disease, Parkinson's Disease … View Profile

    A bit of elaboration…

    The protein which is associated with CF is called Cystic fibrosis transmembrane conductance regulator (CFTR). Its job is to transport chloride ions across epithelial barriers (gut, lung, etc). The gene for CFTR is found on chromosome 7.

    As Miraa says, the most common mutation of CFTR associated with CF is deltaF508.

    About one person in 25 is a “carrier” for this mutation. That means that one copy of chromosome 7 has the mutation and the other copy has the normal form. Carriers are fine because they have a normal copy of the gene.

    Now, doing some sums… there is a probability of  about 1:0.0016 that you and your husband are both carriers. That is a very small chance - it applies to about 1 in 625 couples.

    *Even* if you and your husband are both carriers, there is only a 1:4 chance that any of your children will inherit the mutant form and will develop CF.

    *If* there is a history of CF in *both* your and your husband's families it might be worth being tested to see if you are both carriers and, if so, seeking genetic counselling.

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