Cystic_Fibrosis

Cystic Fibrosis 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 cystic, fibrosis, gene, because, make, disease, protein, people, it’s, cftr, study, research, proteins, possible, one, mutated, lungs, genes, function, doesn’t, deletion, cure, carriers, years, work, very, treatments, thick, sticky, should, seems, seem, plasma, out, number