Essay On Cystic Fibrosis

Cystic fibrosis is an inherited autosomal recessive disease which the child must receive a mutant copy from heterozygous parents. It is an inherited disease, meaning it is passed from generation to generation from parents to their offspring through their genes. It is caused by the presence of mutations in both copies of the gene for the cystic fibrosis Tran’s membrane conductance regulator. The mutation that causes cystic fibrosis is on chromosome number seven. People who inherit only one copy of a gene is consider as cystic fibrosis carriers. This means that they do not have the disease, but can pass their copy of the defective gene on to their offspring. (Shanett, William D. "Genetics Effect on Cystic Fibrosis." American Lung Association.org. N.p., 16 Dec. 2005. Web. 18 Sept. 2006.) To be a carrier, both parents must pass on the abnormal gene for a child to be at-risk of developing the disease. Cystic fibrosis affects a specific protein called cystic fibrosis trans-membrane regulator. It helps the body to make new proteins that balance salt and water movement in and out of the body’s cells. The most common mutation that causes cystic fibrosis Tran’s membrane conductance regulator is the deletion that causes a frame-shift mutation. …show more content…
Some infants have serious problems from birth. Others have a milder version of the disease that doesn 't show up until they reach to their adulthood. The main signs and symptoms of cystic fibrosis are salty-tasting skin, poor growth, frequent chest infections, wheezing or shortness of breath, foul-smelling; greasy stools, wide rounded fingertips and toes, called clubbing. (Robert 449- 52) Clubbing occurs mostly in people born with heart disease and other types of lung problems. This signs of cystic fibrosis develops much later because the lungs aren’t moving enough oxygen into the