Genetics

Genetics

In the United States, one in every 30 people is a carrier of the CF gene. These people have no symptoms, and there is no way to tell whether you are a carrier until you have a blood test. Since CF is a genetic disease, it is carried in the genes.

Cystic Fibrosis is an “Autosomal Recessive” disease. Autosomal means that the CF gene is not carried on the sex chromosome. In other words, both males and females can get CF. Recessive means that if a child is born with one CF gene and one normal gene, the normal gene will dominate and the child with not have CF. He will only be a carrier. For a child to have CF, both the mother and father have to be carriers. If both parents are carriers of the CF gene, their child does not automatically have CF. There is a 1 in 4 chance. CF can be detected while the mother is still pregnant by doing an amniocentesis or a CVS (chorionic villus sampling). However, these tests are not 100% accurate.

CF is common among Caucasians, less common among other races, but is present in all races. The CF gene was identified in 1989. Since then, researchers have found that there are more than 800 different mutations of CF.

There is a mutation in the CFTR gene that causes cystic fibrosis. There is a protein made by the CFTR that acts like a channel that controls how salt and water move in and out of cells. In Cystic Fibrosis, this protein is altered, which results in those channels being blocked. If you would like to understand CFTR better, visit this website.