Cystic Fibrosis

3 Pages 663 Words

Case Study 1: Cystic Fibrosis


Recessive disorders can seem rare to most people because both your parents have to be carriers and if they are, there is only a 25% chance of you actually becoming affected, but in the case of cystic fibrosis, the number of carriers is alarming. That is why cystic fibrosis is the most common autosomal recessive disease in the U.S. One in 25 Caucasians are carriers of the mutated gene.
The CFTR protein is missing or doesn’t function properly causing thick sticky mucus which clogs the lungs and impairs digestion. This disease is devastating because for years it has killed young people before they could reach adulthood. They literally choke to death in their own fluids or have really bad infections in the lungs. They are malnourished because of the blockage in the pancreas ducts that secrete enzymes that aid in digestion. So you see, this disease is terrible to have and it is necessary to study the faulty gene responsible for it.
Dr. Tsui’s research team discovered the gene that causes cystic fibrosis in a process called positional cloning. To understand the disease better, they had to get an idea of where the mutated gene was and work from there. After years of extensive research, they discovered that the faulty CFTR gene was located on the long arm of chromosome 7. After they have found exactly where the gene is, they can clone it and study it more. Knowing more about how a gene works can make it possible to determine how to correct it or how to make more effective treatments for people with the disease. Also, knowing where the gene is makes it possible for detecting if someone is a carrier just by looking at his/her karyotype. In the future, it may be possible for them to find a cure by a series of experiments with the cloned genes. With the knowledge and medical technology of cloning genes, a cure doesn’t seem like a lost hope anymore, it seems very probable.
I think a thre...