UNIT 2 PROJECT
By Madelyn Pham
CYSTIC FIBROSIS
Genetic Disease
Cystic Fibrosis is a rare autosomal recessive, inherited, life threatening disorder that damages the lungs and digestive system. It affects the cells that produce mucus, sweat, and the digestive juices. It causes these fluids to become thick and sticky which then plug up tubes, ducts, and passageways. Symptoms for Cystic Fibrosis can vary from coughing, repeated lung infections, not being able to gain weight, and fatty stools. This disease is can be treated but the condition has a high possibility to not be cured.
SYMPTOMS
Some symptoms of Cystic Fibrosis may include salty tasting skin, frequent coughing, wheezing, difficulty breathing that inclines to get worse, big appetite but poor gain weight, etc. These are only the most common symptoms.
GENETIC TESTING
Most children are now being screened for Cystic Fibrosis and can be diagnosed for this genetic disease at the age of 2 which is when a majority of people start to show symptoms. Genetic testing can include sending a swab of the mouth and scientist will test for mutations, there is also panel testing which is the most common testing and gene sequencing.
PEDIGREE EXAMPLE
In this pedigree the squares represent males, the circles represent females, and all the shapes that are uncolored are diagnosed with the genetic disease: Cystic Fibrosis. Under all shapes are two letters that indicate they're genotype. If there is at least one dominant letter (a capital letter) the person does not have Cystic Fibrosis. If a person only has recessive letters (lower case) they are present for the genetic disease. Some people in this pedigree may have a dash after their first letter because of the lack of information on behalf of their parents family history, therefore, not being able to find out the phenotype. As you can see, Cystic Fibrosis is present at least once in all generations, though, in the first generation the two parents did not have Cystic Fibrosis, they still carried a 25% chance of passing it on to their next child. This process of carrying on a 25% chance of getting Cystic Fibrosis carried on in all 4 generations.
HOW DNA IS TRANSCRIBED, TRANSLATED, & IT'S IMPACTS ON PROTEIN
In order to develop Cystic Fibrosis, a gene will be deleted and affect the normal transcription process. The mRNA will try to replicate the DNA but will develop the wrong code/sequence to make protein when the mRNA makes it's way to the ribosomes. In the process of translation, the tRNA that is matching the codon on the mRNA strand will end up changing the sequence of the protein and make it fold. Whenever there is a mutation in the DNA strand it will likely fold and form into a different shape depending on the order of amino acids. Because of the mutation that Cystic Fibrosis causes, it can change the protein and affect the lugs and produce more mucus than normal because it's not being broken down.
MEDICAL INTERVENTION
Sadly there is not a cure yet for Cystic Fibrosis but there are treatments that are developed to give people a longer and healthier life. Some of these include Airway Clearance Therapy, mucus thinning medication, enzymes and nutrients, and antibiotic and antiinflammatories.
WORK CITED
Estrada, Alejandra. “BIO-X Transcription and Translation:Cystic Fibrosis.” Prezi.com, 4 Apr. 2016, prezi.com/p0qwfijgoc-r/bio-x-transcription-and-translationcystic-fibrosis/.
“Cystic Fibrosis Symptoms - Symptoms of CF.” WebMD, WebMD, www.webmd.com/children/understanding-cystic-fibrosis-symptoms.
“Cystic Fibrosis.” National Heart Lung and Blood Institute, U.S. Department of Health and Human Services, www.nhlbi.nih.gov/health-topics/cystic-fibrosis.
“Diagnosing and Treating Cystic Fibrosis.” American Lung Association, www.lung.org/lung-health-and-diseases/lung-disease-lookup/cystic-fibrosis/diagnosing-and-treating-cf.html.