Cystic fibrosis is one of the most common genetic disorders. Patients with cystic fibrosis have many serious medical conditions and the majority only live to their mid-thirties. I will be looking at many different aspects of the disease such as, phenotypes, genotypes, and inheritance patterns. Also how the disease is diagnosed, treated, and the prognosis of the disease.
According to the American Lung Association, “Cystic fibrosis is the second most life shortening, inherited disorder occurring in childhood in the United States.” The first is sickle cell anemia. The following data was collected by the Cystic Fibrosis Foundation. It is estimated that 30,000 Americans, 3,000 Canadians and 20,000 Europeans have cystic fibrosis. Also that 1 in every 20 Americans are carriers for this defective gene and are unaffected. This means you must receive the defective gene from both of your parents to have cystic fibrosis. Roughly 1 in every 3,700 children that are born here in the United States have this genetic disorder. It occurs equally in both males and females and it is most commonly seen in Caucasians who are of a Northern European descent and least commonly seen in Asian Americans. Up till the 1950’s most individuals with this disease did not live to go to elementary school, but today the average life span of cystic fibrosis patients is around thirty-nine years.
The cystic fibrosis transmembrane conductance regulator gene is where mutations occur for this disease. The cystic
The gene that’s responsible for causing Cystic Fibrosis is on chromosome 7. The most common
Cystic Fibrosis, also known as CF, is one of the most common life-threatening genetic disorders found in people. Discovered in 1938 by Dr. Dorothy Hansine Andersen, Cystic Fibrosis severely affects two parts of the human body, including the respiratory system and the digestive system. Cystic Fibrosis causes the mucus glands to secrete very thick and sticky mucus. This mucus then clogs the tiny air passages and traps bacteria in the lungs. The thick mucus also stops the release of digestive enzymes in the pancreas from reaching the small intestine. According to Cystic Fibrosis Queensland (2015) more than one million Australians carry the Cystic Fibrosis Gene, with one in every 25 people, often not realising they are carrying the deadly gene.
Cystic Fibrosis is a genetic disease which is progressive and limits breathing ability. The lungs and other organs are affected by a thick buildup of mucus. This mucus traps bacteria which leads lung damage, infections, and respiratory failure. The digestive enzymes being released is prevented, affecting the breakdown of food and nutrients being absorbed. ?More than 30,000 children and adults in the United States have Cystic Fibrosis. 70,000 people worldwide.? (Diagnosed With Cystic Fibrosis, Cystic Fibrosis Foundation) Someone who has Cystic Fibrosis have a defective gene from each parent which produces faulty protein. The CFTR gene is the gene that is mutated causing this. The channel that transports chloride in and out of cells is created by instructions that are created by CFTR gene. The regulation of chloride ions and water are prevented creating the thick mucus formed on the passageways of lungs, pancreas, and other organs. Cystic Fibrosis doesn?t cause learning problems are mobility of the person. Babies with this still develop and grow up normally. The average life expectancy is close to 40 years, and has been increasing in the last fifty years thanks to improved care. ?Chronic coughing, recurring chest colds, wheezing, shortness of breath, frequent sinus infections, and allergies that last all year, are the most common symptoms of Cystic Fibrosis.? (Cystic Fibrosis Symptoms) Since this disease is progressive
The genetic disease that I am writing about is called Cystic Fibrosis. Cystic Fibrosis is a genetically transmitted disease that is caused by a defective gene that makes the body produce abnormally thick and sticky mucus, impacting your lungs, pancreas, liver, intestines, sinuses, sex organs and sweat glands. Cystic Fibrosis makes this mucus can clog up your lungs and pancreas making it difficult to breath and serious digestive issues. This amount of thick mucus in the lungs can cause repeated lung infections or even permanent lung damage. The disease may also affect the sweat glands and a man's reproductive system. There are a lot of different symptoms of Cystic Fibrosis depending if it is affecting your digestive system or your lungs and
Cystic fibrosis is a genetic disease that is programmed in the victim’s DNA. It is passed on from parents who are both carriers of the defective gene. This genetic disorder affects the respiratory and digestive systems. People who suffer from cystic fibrosis usually inherit a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). Below is a diagram showing how cystic fibrosis is passed on from carrier parents to a child. The diagram shows that when a child is born by two parents who are both carriers of the CFTR defective gene, there is a one in four chance of being born with cystic fibrosis, there is a 2 in 4 chance of being a carrier or a 1 in
Cystic Fibrosis is an inherited condition. However, the gene for Cystic Fibrosis is recessive and
Cystic fibrosis is an genetic disease that can cause bad damage to the lungs and other organs in the body. It is a common genetic (Gene) disease affecting to geriatric, (adults) young adults, or and kids. Now they’re still searching for a cure, but the only thing that is currently available is a donor’s lungs.
The fundamental causes of cystic fibrosis is a defective, hereditary gene that one must receive from both parents. The CFTR gene, located on chromosome 7. Since cystic fibrosis is a genetic disease, the only way to cure it would be to fix the DNA that went astray. Currently,
“About 1 in 4,000 children in the United States are born with CF” (Crosta, 2009) and “one in every 3,600 children born in Canada [have] cystic fibrosis” ("Cystic fibrosis Canada," 2011). According to several resources a consensus has formed which proposes that people with northern European ancestry, specifically those that are white, are more likely to be carriers of the disease and thus more at risk of having children with the mutated gene. This risk is even more likely if the other parent of the child is a carrier. Another risk factor for CF is “family history, since the disease is hereditary it increases they likely hood of
Cystic Fibrosis is a genetic disorder caused by a mutation in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The inheritance pattern is autosomal recessive. This means, to have symptoms of CF, you must have two defective CFTR genes, by inheriting a mutant copy of the CFTR gene from both your mother and your father. If you inherit a single defective CFTR gene from either your mother or your father, you are a “carrier” of the disease, but do not show symptoms, since it is a recessive gene. However, you could pass the gene onto your child and they could end up having cystic fibrosis, even if you do not have it. The CFTR gene makes a protein that controls how much salt and water move in and out of the body’s cells.
Oftentimes, the first thing that comes to mind when someone mentions an inherited genetic disease is cancer, or even diabetes. However, there are hundreds and thousands of other inherited diseases that effect millions of people each year but are over-looked or underrepresented for various reasons. An example of one of these disease is Cystic Fibrosis(CF). There is not much popularity associated with Cystic Fibrosis because there’s limited research on the topic. However, according to the Cystic Fibrosis Foundation, C.F. is a genetic disease that is essentially a severe cold that never goes away. Mucus builds up in the lungs as well as the pancreas and can impair a persons breathing capabilities (About Cystic Fibrosis 1). Cystic fibrosis is a
Cystic Fibrosis (CF) is the most common fatal genetic disease in the United States today. CF is an autosomal recessive disease that occurs approximately one out of 3,300 live births (Cystic Fibrosis Foundation, 1998). Autosomal means that the gene for CF is not carried on the sex chromosomes and males and females are both afflicted
The Cause of Cystic Fibrosis and the Effects It has on The Child and Parents
Cystic fibrosis is a chronic disease that greatly impairs the endocrine, respiratory, digestive, and reproductive systems. Offspring inherit this autosomal recessive disease when both of the biological parents are carriers for the defective CTRS (cystic fibrosis transmembrane conductance) gene, located on the 7th chromosome (University of Utah Health Sciences). This incurable disease causes the secretory glands to produce viscous sweat and mucus, harming the individual’s major organs (lungs, pancreas, liver, intestines, sinuses, and sex organs) and causing them to malfunction. For example, the production of thick and sticky mucus clogs the lungs and leads to growth in bacteria, often causing lung infections and breathing difficulties. However,
This is a great improvement over survival rate of the 1950s with the life expectancy of 1 year or less for cystic fibrosis patients. Unfortunately, since it is a recessive genetic disease, there are many men and women who are carriers of the disease without actually having the disease themselves. If each parent is a non-affected carrier of cystic fibrosis, there is only a 25 percent chance of having a non-affected, non-carrier child and 50 percent chance of having a child that is a non-affected carrier of cystic fibrosis. Unfortunately there is also a 25 percent chance of having a child affected by cystic fibrosis. This makes prenatal genetic screening very important.