What is CFTR 5T?

What is CFTR 5T?

The 5T variant is a common mild variant occurring in one in ten individuals in the general population. 3 It causes abnormal splicing of the CFTR gene transcript, resulting in a 90% reduction of functional CFTR protein.

What is the T tract in CFTR?

The poly T tract, a string of thymidine bases located in intron 8 of the CFTR gene, can be associated with CFTR-related disorders depending on its size. The three common variants of the poly T tract are 5T, 7T, and 9T.

Why Genetic testing Cannot fully determine how severe a person has CF?

For example, some mutations are more likely to affect the gastrointestinal (GI) tract than the lungs. However, knowing an individual’s CFTR mutations cannot fully tell you how severe that person’s CF symptoms will be. The most common CFTR mutation is F508del (sometimes called delta F508).

What is the normal function of CFTR?

Normal Function The CFTR gene provides instructions for making a protein called the cystic fibrosis transmembrane conductance regulator. This protein functions as a channel across the membrane of cells that produce mucus, sweat, saliva, tears, and digestive enzymes.

Can the newborn screening for cystic fibrosis be wrong?

Those with an abnormal (screen positive) newborn screen do not necessarily have cystic fibrosis. Most times (approximately 90%), it is a false positive, meaning the screen was abnormal and the child does not have cystic fibrosis. Instead, the child is a cystic fibrosis carrier.

Do CF carriers have symptoms?

Most CF carriers do not have symptoms, but some do. Symptoms are not as bad for carriers are they are for people with CF. Symptomatic CF carriers could feel any number of mild CF symptoms. This is because the CFTR gene can be mutated in 1,700 different ways.

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