The Cystic Fibrosis Gene
Cystic fibrosis is an inherited autosomal recessive disease that exerts its main effects on the digestive system and the lungs. This disease is the most common lethal genetic disorder in Caucasians, affecting one out of 2,500. On the bioethical front, CF was the first human genetic disease to be cloned by geneticists. The intent of this paper is to describe how the cystic fibrosis gene was identified, how the gene is defective, its physical manifestations, and to discuss possible treatments of the disease.
The classical approach to finding the gene that is responsible for causing a genetic disease is to first characterize the bio-chemical defect within the gene, then to identify the mutated protein in the gene, and finally to locate the actual gene. However, this classical approach proves to be impractical when searching for the CF gene. To find the gene responsible for CF, the principle of "reverse genetics" is applied. Scientists accomplish this by linking the disease to a specific chromosome. After this linkage, they isolate the gene of interest on the chromosome, and then test its product. Before the disease can be linked to a specific chromosome, however, a marker needs to be found that will always travel with the disease. This marker is known as a Restriction Fragment Length Polymorphism, or RFLP for short. RFLP's are varying base sequences of DNA in different individuals which are known to travel with genetic disorders. The RFLP for cystic fibrosis was first discovered through somatic cell hybridization (cell fusing) and southern blot electrophoresis (gel separation of DNA within an electric field). By using these techniques, three RFLP's were discovered for CF: Doc RI, J3.11, and Met. Utilizing hybridization (rapid heating and cooling of RNA with denatured DNA so that the RNA permanently associates with the DNA,) scientists discovered the CF gene to be located on the long arm of chromosome 7q. Soon after identifying these markers, another marker was discovered that frequented more ...
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...ides. This known as gene therapy.
A drastically different approach taken in an attempt to cure cystic fibrosis, performed as a method of preventive medicine, involves correcting the disease while the affected "person" is still an embryo. Test tube fertilization from affected parents and gene diagnosis during embryonic development can be accomplished through a biopsy of a cleavage-stage embryo and amplification of DNA from single embryonic cells. After this treatment, only unaffected embryos would be selected for implantation into the uterus. Unfortunately however, affected embryos would be discarded.
These treatments are all remarkable breakthroughs in medical science and provide geneticists with a highly positive outlook, but they are nowhere near the miracles yet to come with more research. Since cystic fibrosis is the most common lethal genetic disorder among Caucasians, intense research efforts towards better treatments and its cure are invaluable. The discoveries made from researching this disease may very well help the treatment or cure of other, unrelated diseases.
Cystic Fibrosis and Gene Therapy The average life span of a person with Cystic Fibrosis is 25-30 years of age. Although the more traditional treatments of this disease are adequate, is there something else that could be even better? Gene therapy is fast becoming one of the more studied aspects of genetics today. Let's take a look at some details of Cystic Fibrosis and gene therapy. Technical Aspects Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today
Gene Therapy for Cystic Fibrosis Modern molecular genetics has given hopes and heartaches to thousands of people around the world. These people are looking towards gene therapy for an answer to their questions. To some people such as NIH director Harold Varmus the answer is a better understanding of basic genetic research and to others the answer is a cure, a hope, that their lethal disease will someday be cured. This essay touches on the background of gene therapy for Cystic Fibrosis (CF),
Cystic Fibrosis Results from Mutations in the genes encoding the cystic fibrosis trans membrane conductance regulator. This protein product is a traffic ATPase and C1 channel which localizes to the apical membrane of airway Epithelial. Breaking it down, Cystic Fibrosis is the most deadly common inherited disease affecting Caucasians in the United States. Cystic Fibrosis is a disorder that causes a thick and very sticky mucus to build up in the lungs and digestive tracks. Normally mucus
Cystic Fibrosis is one of the most common genetically inherited diseases affecting white men and women. Cystic fibrosis is a genetic disorder where abnormal amounts of mucus build up in many of the body’s organs especially the lungs and the pancreas. This build up of mucus in the lungs can lead to many persistent infections that can lead to damage and scarring over time. In addition, when this mucus collects in the gastrointestinal tract and around the pancreas it prevents digestive juices from aiding
Cystic fibrosis (CF) is a disease that is caused by a defective gene that is inherited from both parents. The defective gene causes a person’s body to release thick sticky mucus which subsequently causes the patient’s airways to be blocked. Cystic fibrosis is a chronic respiratory disease with typical symptoms being digestion, wheezing, lung infection, stuffy nose, and a persistent cough. In 1938 an American Pathologist, Dr. Dorothy Anderson, was the first to identify and document cystic fibrosis
Cystic Fibrosis is an autosomal recessive genetic disease affecting the exocrine glands and progressively gets worse over time. The production of unusually thick mucus is formed causing blockages of the pancreatic ducts, intestines, and bronchi. Though it majorly affects the respiratory and digestive systems, sweat glands and the reproductive system are affected too. “The result is malnutrition, poor growth, numerous respiratory infections and breathing difficulties” (Interactive Health Tutorials:
Cystic fibrosis is a genetic disease; it is passed down through families. Cystic Fibrosis causes sticky mucus to build up in lungs, digestive track, and other areas of the body. The mucus clogs can lead to life threatening mucus infections. {Board, A.D.A.M. Editorial. Cystic fibrosis. U.S. National Library of Medicine, 16 May 2012. Web. 11 Jan. 2014.} Some of the most common symptoms of Cystic Fibrosis are salty skin, wheezing or shortness of breath, and persistent cough, sometimes with thick mucus
Cystic Fibrosis is an autosomal recessive disease created by mutations in both copies of the cystic fibrosis transmembrane conductance regulator gene or the CFTR gene. This means a person must inherit the recessive gene from both parents to have cystic fibrosis. The CFTR gene codes for an ion channel protein that conducts chloride ions across the epithelial cell membranes of the passageways of the respiratory, digestive, and reproductive systems. Mutations of the transmembrane conductance regulator
Cystic Fibrosis (CF) is a very common, potentially life threatening condition. The disease is caused by inheritance, and affects the exocrine glands of the patient. Cystic fibrosis is found primarily among Caucasians and those of European descent. Those diagnosed with Cystic Fibrosis battle daily to perform simple tasks, such as breathing, as the mucus in their bodies thickens immensely. This mucus will potentially accumulate in the patient’s vital organs, such as the lungs, pancreas, and intestines
Cystic Fibrosis is a chronic non-gender biased illness which affects the digestive system and the lungs. This condition also results in the buildup of mucus, which clogs in the respiratory system as well as the pancreas. Cystic Fibrosis occurs because a defective gene causes the body to excrete excessive sticky and thick mucus that clogs the lungs leading to a life-limiting lung infections. When these thick secretions obstruct the pancreas, they prevent the digestive enzymes from reaching the intestines
Cystic fibrosis is a chronic, inherited, life threatening disease that affects organs in the body, because of sticky and thick mucus buildup on organs. The organs that are affected are the liver, lungs, pancreas, and intestine, which does damage to the respiratory, digestive and reproductive systems (Crosta). Cystic fibrosis is caused by a mutation in a gene called cystic fibrosis trans-membrane regulator, also called CFTR, which has an important function of creating sweat, mucus and digestive juices
Desiree Smith 30104997 Cystic Fibrosis Cystic Fibrosis is an inherited disease characterized by the buildup of thick, sticky mucous that can cause severe damage to the body’s organs. Mucous is usually a slippery substance that lubricates and protects the linings of the airway, digestive system, reproductive system and other organs and tissue. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight-loss. Due to the abnormally thick mucous it can can clog airways, leading
Cystic Fibrosis About 1,000 new cases of cystic fibrosis are diagnosed each year and over 70,000 people are already diagnosed worldwide. Cystic Fibrosis is a genetic disorder that affects the lungs’ ability to secrete mucus properly. It’s gene and protein product cause the body to produce unusually thick and sticky mucus (CFF). Mucus is designed to lubricate the lungs, but the lungs of a patient with cystic fibrosis are prone to infection because of the thick mucus that traps bacteria and foreign
Cystic Fibrosis Cystic fibrosis is a genetic disease that causes lung infection and can limit the ability to breathe over time, caused by a person’s genes. Cystic fibrosis is caused by mutations in a gene. It causes a thick buildup of mucus in the lungs and clogs the airway and traps bacteria leading to infections, lung damage, and eventually respiratory failure. As the mucus builds up it blocks the lungs airway. In the pancreas, the mucus prevents digestive enzymes to be released, which is used
One hereditary disease that can be particularly tragic is cystic fibrosis. Cystic fibrosis is a particularly fatal disease, it affects primarily young children and adolescents but a diagnosis later in life is not unheard of. “It is an inherited disease of the secretary glands” ("What is cystic," 2011) that can affect many of the body's organs, most characteristically the lungs. One of the reasons CF (the short form for cystic fibrosis) is so life-threatening is because of the amount of organs it