Genes are part of our DNA, the unique material inside all our cells that is the molecular code for everything in our body. They are a set of instructions that determine characteristics such as eye colour and hair colour.1
Genes also contain the instructions for making proteins, which are the building blocks for everything in the body and are needed to keep our bodies functioning properly. Everyone has two copies of each gene, one from each parent.1
Sometimes, a gene might have a change in it that causes it to behave differently to a normal gene; this change is called a mutation.1
Cystic fibrosis (CF) is a genetic disease inherited from your parents
CF is a disease you are born with. It is a genetic disease meaning it is inherited from your parents.2
There is a gene that determines whether you have CF or not, it is called the CFTR* gene. Everybody inherits two copies of the CFTR gene.
If one of the CFTR genes you inherit has a mutation (change) that causes CF, you are a “carrier” but do not have the condition.
If both of the CFTR genes you inherit have a mutation that causes CF, you are born with CF.
*CFTR = Cystic fibrosis transmembrane conductance regulator
1. NHS Choices. Genetics. Available from: http://www.nhs.uk/conditions/Genetics/Pages/Introduction.aspx. Updated August 2014. Accessed June 2016.
2. Orenstein DM. Cystic Fibrosis: A Guide for Patient and Family. 3rd ed. Philadelphia, PA: Lippincott Williams & Wilkins; 2004.
3. Cystic Fibrosis Foundation. About Cystic Fibrosis. Available from: https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/. Accessed June 2016.