Reference no: EM132733669

Cystic Fibrosis Genetics Variant R347P

Cystic fibrosis is a genetic disease characterized by a mutation that affects the cystic fibrosis transmembrane conductor regulator protein (CFTR). This protein is found in many tissues and its function is to transport chlorine through channels on the cell surface. When this function fails, sweet becomes more salty. It also generates alterations at the lung, where the mucus becomes thicker and the mucociliary clearence mechanisms fails. This predisposes to infections and to the appearance of bronchiectasis. Pancreatic function is also often affected.

CF Variant Information: As you put your thoughts/ideas, you should include the following:

1-general background about your specific CF mutation and the class it falls into the information you have researched about your specific variant and the implications of the different allele combinations that you researched.

2-What class does your variant fall into? What is the problem that puts this variant into this class? What are the most common clinical manifestations for this variant?

3-What percentage of the population with CF carry this variant? Is it possible to screen people for the presence of this variant?

4-What treatments may be available for treatment of this patient? Include traditional types of treatments and any newer CFTR modulator treatments and how they work with this variant.