What Causes CF

Cystic Fibrosis affects both males and females, but is not contagious to healthy individuals.

Cystic fibrosis is an inherited disease caused by mutations (changes) in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents.

Cystic fibrosis occurs because of mutations in the gene that makes a protein called CFTR (cystic fibrosis transmembrane regulator). A person with CF produces abnormal CFTR protein - or no CFTR protein at all, which causes the body to make thick, sticky mucus instead of the thin, watery kind.

Humans have 23 pairs of chromosomes in their DNA. The CF gene is found on chromosome number 7. It takes two copies of a CF gene - one inherited from each parent - for a child to show symptoms of CF. Persons born with only one CF gene (inherited from only one parent) and one normal gene are CF carriers. Although symptomless themselves, can pass those genes on to their children. An estimated more than 10 million Americans are currently CF carriers. Two CF carrying parents have a 25% chance of giving birth to a child with CF.

There are over 1,000 different mutations of the CF gene that can lead to cystic fibrosis (some mutations cause milder symptoms than others). About 70% of people with CF have the disease because they inherited the mutant gene from both of their parents. This can be detected by genetic testing, which can be done in children, both before and after birth, and in adults who are thinking about starting their families.

Of all ethnic groups, Caucasians have the highest inherited risk for CF, and Asian Americans have the lowest. In the United States today, about one of every 3,600 Caucasian children is born with CF. This compares with one of every 17,000 African Americans and only one of every 90,000 Asian Americans. Although the chances of inherited risk may vary, CF has been described in every geographic area of the world among every ethnic population.

And most of them don't know it. Parents can be tested to see if they carry the CF gene, but because there are hundreds of specific CF gene mutations (not all of which are known), genetic testing for CF won't detect everyone who is carrying a CF gene. Doctors can also perform tests during pregnancy to determine the chances their child having CF.

Carriers
People who carry the cystic fibrosis gene are healthy and have no symptoms — they may be carriers and not know it. It's important to for parents of children with CF to refrain from blaming themselves.
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