Case Study: Cystic Fibrosis

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BIOL 1010 ‐ Biotechnology and Society Assignment #2 Genetic Disease Briefing Cystic Fibrosis Name: Zeina Hassan Date: Monday, November 11th, 2013 Cystic fibrosis, also known as CF, is a disease that causes the body to produce thick and sticky mucus in various parts of the body, resulting in problems in two of the major areas in the body: the lungs and the digestive system (KidsHealth, 2013). Mucus is a slimy substance that is secreted by the mucus membranes of the body. It has several functions in the body such as, lubricating the digestive, respiratory and reproductive systems. It helps keeps the bodily tissues moist and prevent tissues from getting infected or from drying out (KidsHealth,…show more content…
The pancreas is one of the important organs in the body where it produces enzymes that help the body digest the food and the hormones that help absorb sugars. However, when thick mucus is produced in the pancreas, this mucus clogs up the narrow passageways where it can make it very difficult for the person to digest the food and gain al the vitamins and nutrients needed for the body. Cystic fibrosis is a recessive, autosomal disease where it is an inherited disease of the body’s mucus and sweat glands (News Medical, 2013). This disease occurs when a mutation in a gene encoding for cystic fibrosis conductance regulation(CFTR) protein on chromosome 7 (Genetics Home References, 2013). It is passed down from the parents to the children because whoever has cystic fibrosis is born with it. This disease does not go away and it can gradually gets worse over time. The average life span of a person with cystic fibrosis is 30 to 37 years. Cystic fibrosis As was mentioned before the CFTR on chromosome 7 on the long arm prostion at q31.2 from the 117,120,016 base pair to 117,308, 718 base pairs refer to figure 1 (Genetics Home References,2013).

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