This website uses cookies to ensure you have the best experience. Learn more

The Cystic Fibrosis Gene Essay

1262 words - 5 pages

                    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 often with CF than the did the other markers. This meant the new RFLP was closer to the CF gene. At that time, two scientists named Lap-Chu Tsui and Francis Collins were able to isolate probes (radioactively marked DNA/RNA sequences used to detect the presence of a complimentary sequence by hybridization) from the gene interval. In order to determine the exact location of the CF gene, probes were taken from the nucleotide sequence obtained from chromosome jumping. To find these probes, horse, cow, chicken, and mouse DNA was separated using Southern Blot electrophoresis. Two probes were found...

Find Another Essay On The Cystic Fibrosis Gene

An overview of the genetic disease Cystic Fibrosis

1275 words - 5 pages Cystic Fibrosis is a hereditary disease that causes abnormalities in the glands of the exocrine system, affecting the respiratory, digestive, and reproductive functions of sufferers. In our body, exocrine glands discharge various bodily secretions into small ducts (tubes), which lead to the outer surface of the skin or to the interior surfaces of such organs as the stomach and small intestine. In individuals with Cystic Fibrosis, these

Living and Coping with Cystic Fibrosis in the South Asian Community

1694 words - 7 pages A widely accepted Caucasian disease has since changed; as cases of its existence are appearing in the South Asian Population (Orenstein, Rosenstein and Stern, 2000). First discovered in 1989, Cystic Fibrosis (CF) is a genetically predetermined condition, its presences is lifelong and highly complex, which is why many CF sufferers and families develop various mechanisms in order to adapt to the condition (Tippingemail, Scholes, Cox, 2010). Cystic

Deadly Diseases: Cystic Fibrosis

666 words - 3 pages mutated gene to offspring, especially in the certain population with the high disease prevalence. Cystic fibrosis is symptomatic when two disease carriers have children, who inherit two recessive genes. Cystic fibrosis significantly increase mortality and morbidity, with the life expectancy approximately 30 years. The mucus clogs up the lungs, which leads to breathing difficulties with severe cough and shortness of breath, frequent respiratory

Gene Therapy

1035 words - 5 pages Gene therapy. These words to some seem frightening and new, but make no mistake, research has shown that gene therapy used on terrible diseases such a cystic fibrosis provide promising results to finding cures in the future (“How Does Gene Therapy Work?”). Cystic fibrosis is a terrifying hereditary condition that affects a person’s endocrine gland causing thick mucus to block one’s bronchi, pancreatic ducts, and intestines (About Cystic

Cystic Fibrosis

930 words - 4 pages babies born with cystic fibrosis reach adulthood, and further advances, particularly in the field of gene therapy, may produce even better treatments in the coming years.Cystic fibrosis is caused by a defect in the gene responsible for developing cystic fibrosis transmembrane conductance regulator (CFTR). A protein controls the flow of chloride ions into and out of certain cells. In healthy people, CFTR forms a channel in the plasma membrane so

Cystic Fibrosis

1699 words - 7 pages Cystic FibrosisCystic Fibrosis is the second most common inherited disorder occurring in kids in the United States today. It is a life-long disorder that causes severe damage to the lungs and digestive system. More than 10 million Americans carry the defective Cystic Fibrosis gene without knowing (Gibbons). One in every twenty people is a carrier. The ethnic group that has the highest risk of inheriting Cystic Fibrosis is Caucasians, whereas

Overview of Cystic Fibrosis

1316 words - 5 pages vital organs, such as the lungs, pancreas, and intestines. One can determine if he/she has cystic fibrosis by analyzing certain symptoms. Cystic Fibrosis can be diagnosed according to the symptoms the patient shows, and can be treated through specific types of treatments, such as gene therapy. Cystic Fibrosis is a lifelong disease that has a harsh negative affect on many vital organs, some of which include the lungs, pancreas, and intestines

Cystic Fibrosis

968 words - 4 pages Collins and Professor Jack Riordan discovered the exact faulty gene that was responsible for CF in 1985 after cystic fibrosis was narrowed down to chromosome 7. Chromosome 7 was called the cystic fibrosis transmembrane conductance regulator (CFTR). This discovery was one of the most important discoveries for cystic fibrosis research! In the 1990’s, it was discovered that there was dangers of cross-infection amongst people that are have cystic fibrosis

Cystic Fibrosis - 2384 words

2384 words - 10 pages copy of the gene from each parent. This gene mutation is responsible for cystic fibrosis. ("Cystic fibrosis Canada," 2011) This gene is known as the CFTR gene ("," 1996). Reference Figure 3. The “gene makes a protein that controls the movement of salt and water in and out of your body's cells. In people who have cystic fibrosis, the gene makes a protein that doesn't work right. This causes the thick, sticky mucus

Diseases: Cystic Fibrosis

996 words - 4 pages proved that there was an increased salt excretion within patients who suffered from Cystic Fibrosis. With this break through the ability for doctors to be able to diagnose children became a lot easier and got rid of a large number of invasive tests that were not as effective. In 1985 the medical community narrowed down the source to chromosome 7. Which later paved the way for fully identifying the specific gene in which causes Cystic Fibrosis

Cystic Fibrosis - 1335 words

1335 words - 6 pages down through the generations. Cystic fibrosis stays in the patient their whole life. All symptoms of Cystic Fibrosis are caused by a little mutation to the single chromosome 7. This specific gene is the one responsible for the construction of the protein called the cystic fibrosis trans membrane conductance regulator (C.F.T.R.). Usually, the gene controls the way of chloride ions into and out of the cell, but when mutated in the case of Cystic

Similar Essays

Cystic Fibrosis And Gene Therapy Essay

1337 words - 5 pages future looks promising.The aim of this report is to examine Cystic Fibrosis as a genetic disorder, how it affects the lives of those born with it and to investigate gene therapies associated with it. This report also investigates the ethical issues and recent developments in gene therapy as well as the factors that have kept it from becoming an effective treatment for genetic disorders.All of the information presented in this report has been

Gene Therapy For Cystic Fibrosis Essay

1009 words - 5 pages rhesus macaque monkeys. More research in this field is necessary as it is unclear which patients need which level of gene expression to combat their disease and the ideal age for gene therapy has to be evaluated. [71] 9.2 Personalized Therapies With the discovery of the different classes of Cystic Fibrosis a more systematic approach is becoming an aim in research. Patients should not be treated equally but every class of CF should get a mutation

Cystic Fibrosis: A Case For Gene Therapy

752 words - 3 pages Cystic Fibrosis "“ A Case For Gene TherapyCystic Fibrosis is caused by the mutation in the gene, which is located in the long arm of chromosome 7, causing the loss of a single amino acid from a large protein and thus disrupting the binding site for ATP in the protein. Cystic Fibrosis is inherited genetically from one generation to the next due to an autosomal recessive allele. People suffering from Cystic Fibrosis are homozygous for the

The Symptoms, Causes And Remedies For Cystic Fibrosis

1287 words - 6 pages the way cars need lubricants to keep all parts moving and functioning properly. However, people whom have this mutated gene produce excessive amounts of a sticky, thick type lubricant. “The disease is caused by mutations in a single gene” (Fitzgerald). “First identified in 1989, this is a 230 kb gene on the long arm of chromosome 7 which encodes a 1480 amino acid protein called Cystic Fibrosis transmembrane regulator (CFTR). Mutations in a membrane