Many humans around the world are carriers of a genetic component that can cause their dependents to be born with a genetic disease that can affect their lives forever. Some of these conditions are currently under investigation by facilities which specialise in genetics testing. Cystic Fibrosis is one of many genetic disorders that can affect devilry the patient and their everyday life. Cystic Fibrosis are known to be a recessive disorder, meaning that both parents must a carrier of the gene in order to pass on the defective gene to any of their children in order to get the disease. If the faulty gene is inherited by one of the children, he or she will also be a carrier of the gene. Being a carrier of the disease will not affect the carrier, but the gene can be passed down to their children. This essay will address the biological basis and symptoms of Cystic Fibrosis, the treatments and/or management of this disease, and the issues, controversies regarding genetic screening. (University of Utah | Health Sciences, 2015)
1. The biological basis and symptoms of Cystic Fibrosis. The genetic disease Cystic fibrosis is a common inherited disease which from an early childhood there are recurrent chest infections, which can cause the individual lung damage, there is an excess of salt in the sweat. …show more content…
Cystic fibrosis can also cause intestinal malabsorption, which can lead to severe malnutrition to the individual and growth failure. Cystic fibrosis can lead to death if untreated from and early childhood. (Campbell., 2012) This genetic disease is caused by mutation in a pair of genes which are located on chromosome 7 called CFTR, which stands for “Cystic fibrosis transmembrane conductance regulator”. Unlike the sex cells, every cell in the human body has 46 chromosomes, because 23 pairs of chromosomes are inherited from the mother as well as the father. A gene on each chromosome 7 that is responsible for the production of protein, this gene normally helps sodium chloride, or better known as salt, to move in and out of cells. The mutation in this gene lead to absent or a defective CFTR production, causing Cystic fibrosis. If this protein production is not working accordingly, that movement is blocked, causing an abnormally thick mucus production on the outside of the cell. (University of Utah | Health Sciences, 2015). The cells that most severely affected in the body are the cells located in the lungs. The mucus create in the lung cells, clogs the airways in the lungs, increasing the risks of the individual with the disease, of contracting an infection by bacteria. Currently there are more than 1,800 different Cystic fibrosis mutations identified by scientist. (Campbell., 2012) The people suffering with this disease, suffer from and abnormal composition of the fluid lining onto the airway walls renders them to be highly prone to infections. As of normal, the lungs contain a lubricating mucus, however, having this disease the mucus becomes thick and sticky, which leads to severe inflammation, chronic infections, and eventually lung damage. Though, is the disease is detected early enough through neonatal screening, the chronic infections and the lung damage can be delayed, through aggressive treatments. • Some other symptoms include: - Recurrent pancreatitis. - Growth (polyps) in the nasal passages - Jaundice due to biliary cirrhosis caused by blocked bile ducts in