Mr. Perez
11-30-12
Per. 2
Frame Shift Mutation Have you ever wondered how a mutation can affect a human body? There are multiple mutations that affect the human body, but I chose to research about frame shift mutations. A frame shift mutation is the deletion or insertion of one or more nucleotides in a DNA strand. Frame shift mutations changes the “reading frame” of a DNA strand. For example, if a single nucleotide gets inserted to a DNA strand, the nucleotides in front of the one added get shifted over changing most of the original amino acids. Therefore, frame shift mutations always build the incorrect proteins Also, frame shift mutations can cause life time diseases. Cystic fibrosis is a disease caused by a frame shift mutation. Frame shift mutations are unhealthy because it causes diseases, there is no cure, and it can be passed down to new born babies. Cystic fibrosis is a caused by a frame shift mutation specifically, deletion mutation. Cystic fibrosis is an inherited chronic disease that affects the lungs and digestive system. Peter Crosta says, “Cystic fibrosis occurs in the gene called cystic fibrosis transmembrane conductance regulator (CFTR), which serves an important function in creating sweat, mucus, and digestive juices”(1). Cystic fibrosis affects mostly the lung cells. When a human body is diagnosed with cystic fibrosis, a defective gene causes the mucus to be thick and sticky in the pancreas and lungs. Kathleen Romito says, “The pancreas is an organ in the upper belly, behind the stomach and close to the spine. It makes digestive enzymes that your body uses to break down and process food”(1). Therefore, if the mucus is thick and sticky there will be an abnormal build up of mucus that gets clogged up in the lungs and the pancreas making it difficult for the body to breath. Think of it as if you were breathing through a coffee straw, little amount of oxygen that is being inhaled until your body is satisfied.
On the other
Cited: Page 1. "Frameshift mutation - definition from Biology-Online.org." Life Science Reference - Biology Online. N.p., 31 Aug. 2010. Web. 9 Dec. 2012. http://www.biology-online.org/dictionary/Frameshift_mutation 2. "Cystic fibrosis: Causes - MayoClinic.com." Mayo Clinic. N.p., 13 June 2012. Web. 9 Dec. 2012. <http://www.mayoclinic.com/health/cystic-fibrosis/DS00287/DSECTION=causes>. 3. Crosta , Peter . "What Is Cystic Fibrosis? What Causes Cystic Fibrosis?." Medical News Today: Health News. N.p., 28 Apr. 2009. Web. 9 Dec. 2012. <http://www.medicalnewstoday.com/articles 4. "CFTR - cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. N.p., 2 Dec. 2012. Web. 9 Dec. 2012. <http://ghr.nlm.nih.gov/gene/CFTR>. 5. "About CF: Causes, Signs & Symptoms of Cystic Fibrosis | CF Foundation." Cystic Fibrosis Foundation - Home. N.p., n.d. Web. 9 Dec. 2012. <http://www.cff.org/AboutCF/#Top>. 6. Genetic Science Learning Center. "Cystic Fibrosis." Learn.Genetics 9 December 2012 http://learn.genetics.utah.edu/content/disorders/whataregd/cf/ 7. Bownas, Jennifer. "Cystic Fibrosis Gene." Oak Ridge National Laboratory. N.p., 12 Sept. 2003. Web. 9 Dec. 2012. <http://www.ornl.gov/sci/techresources/Hu 8. John Pope, D. O 'Brien, & Susanna McColley. “How Cystic Fibrosis affects digestion and the pancreas.” 12 August 2011 Web. <https://myhealth.alberta.ca/health/Pages/conditions.aspx?hwid=ug1494&>