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Cystic Fibrosis

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Cystic Fibrosis

on 2 January 2013

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Transcript of Cystic Fibrosis

By: Group #1 Symptoms and Treatment inheritance pattern: autosomal recessive--> both parents have one mutated gene, but do not express it. Because both parents have one gene, the offspring inherits both genes as mutations. Since both genes are mutations, the offspring expresses the mutation.

normal gene: protein produced helps sodium chloride move in/ out of cells
mutation: movement of sodium chloride is blocked, which causes a thick, sticky mucus to be produced on the outside of the cell. -Location of gene
-Prevalence of disorder Location: Cystic fibrosis is located on chromosome 7. Chromosome 7 represents 5% to 5.5% of the humans DNA.
Cystic fibrosis is found on the long q arm of chromosome 7 at position 31.2

About 1,000 people in the world each year are infected with cystic fibrosis. It is most common in Caucasians in the U.S. but many people are carriers even though they don't fully have the disease Symptoms -These vary from person to person, for babies-their skin tastes salty or they don’t poop when they are first born “pass stool”.
-Later in life you cough a lot and usually cough up spit/mucus that has some blood in it. Treatments -It currently has no cure.
-You can use enzyme pills, nutrients, inhalers, antibiotics, vitamins, an inflatable vest that loosens the mucus build up in your lungs.
-In severe cases long term hospital visits are necessary.
-A mixture of exercise and pills/diets high in salt help with mucus build up.
-A mixture of exercise and pills/diets high in salt help with mucus build up. -Nutritionist can help with calorie intake, drinking high-calorie shakes. -CFTR." - Cystic Fibrosis Transmembrane Conductance Regulator (ATP-binding Cassette Sub-family C, Member 7). U.S. National Library of Medicine, 17 Dec. 2012. Web. Dec. 2012.
-"Cystic Fibrosis." - Genetics Home Reference. U.S. National Library of Medicine, 11 Dec. 2012. Web. 17 Dec. 2012
-"Cystic Fibrosis: MedlinePlus Medical Encyclopedia." U.S National Library of Medicine. U.S. National Library of Medicine, 1997. Web. Dec. 2012.
-"Cystic Fibrosis Symptoms, Causes, Treatment - What Are Other Names for Cystic Fibrosis? on MedicineNet." MedicineNet. N.p., 1996. Web. Dec. 2012
-"Genetics of Cystic Fibrosis." Genetics of Cystic Fibrosis. News Medical, n.d. Web. Dec. 2012. Bibliography Inheritance pattern+abnormal gene Normal Gene -The Gene CFTR is involved in cystic fibrosis, normally this gene provides instructions that make channels for the transfer of the particle chloride in and out of the cell

-This channel is a protein called the cystic fibrosis transmembrane conductance regulator

-This particle is found in sweat and its movement helps to control the movement of the water in tissues, and this produces normally thin mucus

-The mucus protects the lining of things like organs and tissues

-This gene also helps with other channels that make sure that things like the pancreas and lungs function properly.
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