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What is delta F508 cystic fibrosis?
A person with CF inherits two mutated copies of the CFTR gene. These mutations can either be homozygous, the same, or heterozygous, different mutations. The most common mutation is delta F508, accounting for approximately 70% of all mutations. Those homozygous for this mutation tend to be pancreatic insufficient.
What does it mean if you are a cystic fibrosis carrier?
What is a cystic fibrosis carrier? Cystic fibrosis is an inherited disease that affects the glands that make mucus and sweat. Children may be born with cystic fibrosis if each parent carries one faulty gene for the disease. Someone with one normal CF gene and one faulty CF gene is known as a cystic fibrosis carrier.
What is the delta F508 gene?
Abstract. The most common mutation in the gene associated with cystic fibrosis (CF) causes deletion of phenylalanine at residue 508 (delta F508) of the gene product called CFTR. This mutation results in the synthesis of a variant CFTR protein that is defective in its ability to traffic to the plasma membrane.
Can you have cystic fibrosis symptoms as a carrier?
Most carriers do not have symptoms of CF. However, some say they have mild symptoms. New research shows CF carriers have a higher risk for CF-related issues. Because of this, CF screening is encouraged, especially for those with family members with CF or those wanting to start a family.
How common is it to be a carrier of cystic fibrosis?
Am I a CF carrier? It is estimated that approximately 1 in 35 Americans is a carrier of the CFTR gene mutation, which means more than 10 million Americans are cystic fibrosis carriers.
Can you be a carrier of cystic fibrosis without family history?
Yes. In fact, most couples who have a child with CF have no family history of cystic fibrosis and are surprised to learn that they carry a mutation in the CFTR gene, which causes the condition.
Can you have very mild cystic fibrosis?
While cystic fibrosis is usually diagnosed in childhood, adults with no symptoms (or mild symptoms) during their youth can still be found to have the disease.