What is a Genetic Disease?
A genetic disease is an inherited disease. Cystic fibrosis (CF) is caused by inheriting two mutations, one from each parent, for a protein called CFTR. CFTR regulates salt and water movement across the cell membrane. When the CFTR protein is defective, because of the inherited mutations, the result is thick, sticky, mucus that clogs ducts.
- Approximately 3,500 children in the U.S. are born with CF each year.
- Approximately one in every 30 people in the United States are carriers for CF.
- Males and females are affected.
- All ethnic or racial groups are affected, although it is more common in Caucasians (whites).
- Carriers of CF do not have CF and most do not know they are carriers.
- Both parents must be carriers for a baby to have CF
- CF occurs when a person has two genetic mutations for CF, one from each parent.
- A child born to two carriers of CF has:
- 25 percent chance of having CF.
- 50 percent chance of being a carrier.
- 25 percent chance of being neither a carrier, nor having CF.