Cystic Fibrosis: Autosomal Recessive System

Decent Essays
What is it? Cystic Fibrosis is a disease which mainly affects the lungs and digestive system due to a malfunction in the exocrine system which is responsible for producing saliva, sweat, tears and mucus.
What type of mutation is it? People who have cystic fibrosis have a faulty gene on chromosome 7, this is called CFTR which stands for cystic fibrosis transmembrane conductance regulator. The protein that is produced by this gene usually helps salts (sodium chloride) move in and out of cells, but if the protein doesn’t work like it is suppose to, the movement is blocked and an abnormal thick mucus is produced on the outside of the cell. The cells which are mostly affected are the lung cells.
How is it inherited? (Is it sex-linked, autosomal dominant, autosomal recessive, etc.) Cystic Fibrosis is autosomal recessive, meaning that it equally occurs in both females and males. The Cystic Fibrosis gene must be inherited from both parents although it can skip generations.
How is it diagnosed? People with Cystic Fibrosis have between 2-5 the normal amount of salt in their sweat. Doctors can use a sweat test to measure the amount of sodium chloride (salt) in an individuals sweat, the sweat is taken from the person’s leg or arm and taken to a laboratory to be examined. For newborns, doctors are able to measure the amount of a certain protein (trypsinogen)
…show more content…
(cure, care, prevention, if any?) There is currently no cure for Cystic Fibrosis. A person who has Cystic Fibrosis may consume up to 40 capsules daily which assist them to digest food, in some cases sufferers always may need to do up to three hours of airway clearance every day. Treatment generally includes some of the following: intensive daily physiotherapy to clear the lungs, salt and vitamin supplements, exercise (as it is important to clear airways) and antibiotic therapy to treat lung infections. From birth a person who has Cystic Fibrosis undergoes consistent medical treatment and
Get Access