What genetic pattern is associated with cystic fibrosis?

Cystic fibrosis is associated with an autosomal recessive inheritance pattern, which means that an individual must inherit two copies of the mutated gene, one from each parent, to express the disease. The gene responsible for cystic fibrosis is the CFTR gene located on chromosome 7, and mutations in this gene lead to the production of a dysfunctional cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in the production of thick, sticky mucus in various organs, particularly the lungs and pancreas.

Because cystic fibrosis is autosomal recessive, carriers (individuals with one normal and one mutated gene) do not exhibit symptoms of the disease, but they can pass the mutated gene to their offspring. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and therefore develop cystic fibrosis.

In contrast, conditions that are autosomal dominant require only one copy of the mutated gene for the disease to manifest, which is not the case for cystic fibrosis. X-linked dominant inheritance affects genes located on the X chromosome and typically has different patterns of inheritance affecting males and females. Polygenic inheritance involves multiple genes contributing to a trait or condition and is not