Name of Disease/Disorder

Cystic Fibrosis has to do with a protein made by chromosome 7 called CFTR; it helps salt move in and out of cells. If the protein does not function right the salt movement is blacked and a mucous is formed around the outside of the cell.

Cystic Fibrosis is a recessive disorder. To inherit the disorder both parents must have the bad gene. If the child only gets one bad gene from a carrier parent, the child will be a carrier also. If the child of two carrier parents and get both bad genes, the child will be affected. If the child gets two normal genes, the child will be normal

Some symptoms of cystic fibrosis are: coughing or wheezing, respiratory illnesses, weight loss, and salty tasting skin. Most cystic fibrosis patients only live slightly past thirty years old because the lungs are clogged and repeatedly infected.

Daily Life:

Cystic fibrosis patients have between 2 and 5 times the normal amount of salt in their sweat. Doctors can have the patient take a sweat test to make sure how much salt is in the persons sweat. With new born babies, a doctor can measure how high the amount of protein called trypsinogen in the blood. A cystic fibrosis patient will have a lower amount then a normal person.CF can also be found through prenatal screening.

CF cannot be completely treated. Although, there are ways to help mucous clear. To help mucous clear, a patient can go through chest physical therapy, where the person is hit on the back repeatedly. CF patients can also use inhalers to kill bacteria that cause lung infections. Gene therapy is another option; a healthy CFTR gene is put into the lung cells to correct the defective gene. A CF patient may use a mechanical vest or blow into a device the shakes the mucous loose.

Scientists are looking for therapies to help CF patients. At this time doctors are replacing the bad genes with healthy genes to cure the problem, but not many people can afford that or want to take the risk. Many years ago, CF patients didn’t live past elementary school; ten years ago most CF patients weren’t living past 20; CF patients now are living past 30; scientists are learning more and more everyday.

Additional Facts:
There are about 2500 babies born with cystic fibrosis in the U.S. each year. CF is mostly found in Caucasians. 1 out of 2500 Caucasians inherits CF; 1out of every 13500 Hispanics inherit CF; 1 out of every 15100 African Americans inherits CF.

Punnett Square:


Pedigree Chart:


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