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Tuesday, May 21, 2013
Can cystic fibrosis (not)be inherited disease
Can Cystic fibrosis (not) be inherited disease Thanks...
Yes, CF is always an inherited disease. Cystic fibrosis (CF) is a common genetic disease. CF affects the lungs and digestive organs. It is caused by a mutation (change) in a gene called CFTR. When this gene is mutated, it causes the secretions in the lungs and other organs such as the pancreas, bile duct, and GI tract to become very thick and sticky. This interferes with breathing and digestion.
CF is inherited as an autosomal recessive disease. Someone who is affected with CF does not have any working copies of the CFTR gene. Genes come in pairs - you get one from your father and one from your mother. If someone has one working copy of the CFTR gene and the other copy is mutated (does not work), that person is called a carrier. Because a person who is a carrier has one working copy of the gene, they do not have CF, but they can pass that non-working copy on to children. If two carriers have children together, there is a 25% or 1 out of 4 chance in each pregnancy that both the mom and dad will pass on their non-working CFTR gene at the same time and the child will have CF.
Because carriers for CF usually have no health problems, the mutated gene can be passed down through a family without anyone knowing that it is there. Carrier parents can have children who inherit their working copies of CFTR and are not affected or are carriers just like the parents and not affected. It is only when 2 carriers both pass on their non-working copy of the CFTR gene that you would see a child with CF.
Also, there are blood tests that can look to see if someone is a carrier for CF and some states screen all babies for CF on the Newborn Screening test.
You can find a lot of good information about CF at the Cystic Fibrosis Foundation web site.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University