Cystic Fibrosis Research Paper

Cystic Fibrosis cannot be developed or contracted it is something you’re born with. CF is a recessive disease, it occurs when a child inherits one defective 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 ("www.medincinet.com," 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” ("www.medincinet.com," 1996).

Our genetics and DNA design the entire make up of the human body. From our physical appearance to our health and mental capabilities. Parents have dominant and recessive traits that decide the genetic makeup of their offspring. More times than often the match up of the patient’s genes can pass down a genetic disorder to the offspring. One common example of an autosomal recessive disorder is cystic fibrosis. Cystic fibrosis is a genetic condition in which the lungs and digestive system become clogged with thick sticky mucus. When learning about this disorder, it is important to understand the etiology, pathogenesis, and clinical manifestations. Knowing this information will allow for an enhanced perceptive on the people who live with

Cystic Fibrosis is an inherited disease caused by mutations in a gene on 7th pair of chromosomes. Cystic Fibrosis is a chromosomal abnormality, meaning that one of the 23 pairs of chromosomes are not what they are supposed to be. A person without Cystic Fibrosis has a gene in chromosome 7, which produces a normal and substantial amount of protein called Cystic Fibrosis transmembrane regulator (CFTR), which in turn produces thin and watery mucus. A person with Cystic Fibrosis has a gene in chromosome 7, which produces either abnormal CFTR protein or no CFTR protein at all, which causes the body to produce thick and sticky mucus “A person with CF produces abnormal CFTR protein — or no CFTR protein at all, which causes the body to make thick,

What is Cystic Fibrosis? Cystic Fibrosis is a progressive genetic disease that causes persistent lung infections that limits you the ability to breath. The first ever case of CF was in 1938 by Dr. Dorothy Anderson a Pathologist. He found the disease to be caused by malnutrition Dr. Dorothy called the disease “Cystic Fibrosis of the Pancreas”. Cases of this disease in the 1950s where difficult because people never lived long enough to make it to elementary school. With the advances of technology over the years people with CF live long enough to make a family and finish their careers. Over the years scientist and doctors still have not found a cure for CF. Lung cancer is one of the most serious side effects of getting CF because of mucus getting clogged up in the lungs.

Cystic Fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) which is located in the middle of chromosome 7. The CFTR gene encodes a protein of the same name. This protein functions as a “channel across the membrane of cells that produce mucus, sweat, saliva, tears and digestive enzymes” (Genetics Home Reference, 2015). The channel transports chloride ions which are negatively charged particles, in and out of cells which help in controlling the water movement in tissues to allow for the production of thin, feely flowing mucus, a substance that lubricates and lines the airways, digestive system, reproductive system and other tissues and

Cystic fibrosis (CF) is a serious disease that is life-threatening. This disease is characterized by the buildup of thick mucous in the lungs due to a defective gene within the body. It is a disease that is genetic which means that it is passed down from one’s parents. The disease is genetic because patients with Cystic Fibrosis inherit a defective gene on chromosome 7. This gene is responsible for protein production and the moving of water and salt in and out of the body’s cells. If a person inherits on faulty CF gene from each parent the chances are very high that they will develop Cystic Fibrosis. If the person inherits only one faulty gene from their parents and one normal gene they are known as carriers of CF and usually develop no symptoms of the disease and usually end up living normal lives. However they can pass the faulty gene down to their children.

Cystic Fibrosis, or CF, is a genetic disease that affects children to young adults. It occurs when a child has two defective copies of the gene that causes cystic fibrosis, one from each parent. The disease primarily affects the digestive system and it also affects the respiratory system, mainly the lungs bronchi and bronchioles. Cystic fibrosis affects the cells that produce mucus and digestive juices, as it changes the protein that regulates the movement of salt in and out of cells. Which leads to people thick and sticky mucus and digestive juices, such as pancreatic juices. Whereas people who do not have CF have thin and slippery mucus and digestive juices. The severity of the disease differs from one person to the next, yet the

Autosomal recessive means that both parents must pass down the recessive gene for the offspring to have this disorder. These are then usually passed by two carriers. They then have one recessive gene and one dominant gene for CF. Two carriers have a 25 percent hazard of having an unaffected toddler with two regular genes, a 50 percent risk of having an unaffected toddler who is also a carrier, and a 25 percent danger of having an affected infant with two recessive genes (MFMER,2016). There is an abundance of symptoms that you have to go through if you are diagnosed with CF. CF causes the respiratory system, digestive system, and reproductive system many complications (Cystic, 2016). Symptoms may consist of very salty-tasting skin, relentless coughing, lung infections, wheezing, shortness of breath, poor growth, and even weight gain with a healthy diet (About). Symptoms can start from a very young age and there is several tests that doctors can do to confirm the

There are many possibilities of how your child could have gotten Cystic Fibrosis. I have attached a chart below known as a pedigree that will explain how your child was affected. There are two ways of getting CF. Cystic Fibrosis can be gotten if the child inherits two copies of CFTR (Cystic fibrosis transmembrane conductance regulator) gene that contain mutation. Each of these have to be one copy from each of the

Cystic fibrosis (CF) is one of the most common fatal genetic diseases in Canada. This disease is the result of a mutation of the cystic fibrosis transmembrane conductance regulator (CFTR), located on chromosome seven. CF causes the body to produce thick and sticky mucus that clogs the lungs, causes infections, and blocks the release of enzymes from the pancreas. The first such defective gene was identified by research geneticist Dr. Lap-chee Tusi in 1989 with his team at the Hospital for Sick Children in Toronto. The mutated copy of the gene is recessive, so a child must inherit both copies of the defective allele from his or her parents in order to express CF. In the past, parents realized that they were carriers only when their child was

Cystic Fibrosis (CF or CFTR) is a life threatening disease that causes the buildup of thick and sticky mucus in many organs and body systems, and the mutated genes are passed down from parent to child. It affects about 30,000 people in the US, about 5% of the U.S Population carries the disease, but they do not have it. CF is most commonly present in Caucasians and some Hispanic. CF is less common in African Americans and Asians. Although cystic fibrosis is rare in most race, if it is inherited, it can life threatening when it isn’t treated in the early stages.

Cystic fibrosis is a common hereditary, a long term disease that could affect several parts of the body. It is an inherited disease triggered through “changes in a gene on chromosome 7, one of the 23 pairs of chromosomes that children inherit from their parents” (kidshealth.org). CF happens because of alterations in the gene that makes a protein called CFTR also known as cystic fibrosis transmembrane regulator. There’s at least about 2,000 different mutations in the CFTR gene, all with different phenotypes. One study actually suggested that most of these mutations have no compulsive effect at

Although a cure for CF through gene therapy is not yet available, scientists are aggressively moving forward on strategies that may eventually lead to the permanent introduction of the normal gene or the correction of the defective CFTR gene in an effort to improve dramatically the lives of

CF is an autosomal recessive gene. This means that the affected person had received the two defective genes from each parent. If the person inherits only one copy of the defective gene, then he or she will be a carrier. Carriers don 't have the disease but can pass on to their children

The pedigree above shows a recessive autosomal inheritance with the proband being the first generation male of the family; the genotype of this individual would be (ff). Two copies of mutations would be needed in order for the disease to manifest itself hence there is no evidence of cystic fibrosis in the second and third generation since they are only carries with genotype (Ff) due to the mother being a non-carrier (FF) in the first generation. The disease is present in the fourth generation due to both parents being carriers, however, if they were to have another child, there is a 25% chance that the child will be non-carrier (FF) or a 50% chance of gaining only one abnormal allele from either parent. Since it is an autosomal recessive it will affect only the non-sex chromosomes thus can be passed to either males or females.