What type of genetic disorder is cystic fibrosis?
Cystic fibrosis is an example of a recessive disease.
That means a person must have a mutation in both copies of the CFTR gene to have CF..
What chromosome causes cystic fibrosis?
The seventh pair of chromosomes has a gene called the CFTR (cystic fibrosis transmembrane regulator) gene. Changes (mutations) or errors in this gene are what cause CF. This gene is very large and complex.
Is Cystic Fibrosis a single gene disorder?
A person must inherit two copies of the CFTR gene that contain mutations — one copy from each parent — to have cystic fibrosis. Some genetic diseases, such as cystic fibrosis, are caused by mutations in a single gene.
What type of mutation occurs in cystic fibrosis?
The most common CF mutation, F508del, is primarily considered to be a processing mutation. The F508del mutation removes a single amino acid from the CFTR protein. Without this building block, the CFTR protein cannot stay in the correct 3-D shape.
What gender is cystic fibrosis most common in?
Cystic fibrosis affects both males and females; approximately 30,000 people in the United States have been diagnosed with the condition.
What are four symptoms of cystic fibrosis?
People with CF can have a variety of symptoms, including:Very salty-tasting skin.Persistent coughing, at times with phlegm.Frequent lung infections including pneumonia or bronchitis.Wheezing or shortness of breath.Poor growth or weight gain in spite of a good appetite.More items…