Cystic Fibrosis is caused by a fault in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7 at q31.2. For CF to be expressed‚ a faulty copy of the gene must be present at both alleles; autosomal recessive. Therefore both parents must be carriers of‚ or affected by the cystic fibrosis gene (fig. 1) for the gene to be passed on. If a person has one copy of the faulty allele (are heterozygous) they are carriers of the gene and can pass this allele on; if they possess
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CYSTIC FIBROSIS Lori Alley Erika Lemerande Nicole Carpenter Maureen Joseph June Reyes Clinical Description and Definition of the Disease. “Cystic Fibrosis is a life threatening‚ genetic disease that causes persistent lung infections‚ and progressively limits the ability to breathe” (“Cystic Fibrosis‚” n.d.). Pathophysiology and History of the Disease • Cystic Fibrosis is caused by defects in the cystic fibrosis gene. • Cystic Fibrosis was recognized over 400 years ago in Germany. • There is no
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Cystic fibrosis is a disease passed down through families‚ a genetic disorder‚ that causes thick‚ sticky mucus to build up in the lungs‚ digestive tract‚ and other areas of the body. Cystic fibrosis is where it affects the cells that produce mucus‚sweat and digestive juices. These fluids are normally thin and slippery‚ but in Cystic fibrosis‚ a defective gene causes the fluids to become thick and sticky plugging up tubes‚ ducts and passageways in the human body especially in the lungs and pancreas
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from a genetic disorder called Cystic Fibrosis. There is now a test available for the status of this genetic disease‚ and Jonathon opts to be tested. Jonathon discovers that he has the mutation responsible for the lethal disorder. Jonathon has worked as an air traffic controller and his company has learned of his results of his test‚ and as a result the company has dismissed Jonathan from his job where he had worked faithfully for more than eight years. Cystic Fibrosis is named because of the fibrous
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Cause of Cystic Fibrosis Cystic Fibrosis is caused by a mutation in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. The CFTR gene codes for the CFTR protein which is a chloride ion channel belonging to the ABC (what does it stand for) transporter superfamily of proteins. The CFTR proteins are normally located on the apical plasma membrane of epithelial cells in the airways‚ lungs‚ skin‚ digestive organs (E.g. - the pancreas and intestine) and reproductive tracts (E.g. - sperm
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Question number 1 The disease cystic fibrosis causes the buildup of salts to occur outside the cells of the tissue that lines human lungs. The salt draws in water‚ creating sticky‚ thick mucus that causes chronic breathing difficulties and eventually death. Which cell organelle is most likely defective in this case‚ and why? Solution According the medical experiment‚ cystic fibrosis disrupts the normal functioning of epithelial cells whose working is to make sweet glands in various parts of body
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Stem cells – the cure to Cystic Fibrosis? Cystic Fibrosis is one of the UK’s most common life threatening diseases with it affecting over 9‚000 people. Statistics show that one in twenty five people in the UK carry the faulty gene‚ each week five babies are born with the disease and another two young lives are lost. Cystic Fibrosis is a genetic disorder caused by a recessive allele. It affects the internal organs‚ especially the lungs and digestive system‚ by clogging them with thick sticky mucus
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Cystic fibrosis is caused by a mutated gene‚ cystic fibrosis transmembrane conductance regulator. It’s a disease that changes the way your body makes mucus and sweat. It also changes how well your lungs‚ digestive system‚ and other body parts work. Cystic fibrosis causes your mucus to be too thick‚ or sweat to be too salty. Mucus that is too thick causes your lungs to clog and makes it hard to breathe. It can block your pancreas‚ so you can’t digest your food very well. I believe that cystic fibrosis
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that encodes for a chloride channel called the cystic fibrosis transmembrane conductance regulator (CFTR). In ductal epithelial cells‚ CFTR is highly expressed and functions to transport fluid and anions into the lumen. Dysfunction of the CFTR gene leads to a decrease in luminal fluid volume and decreased pH‚ resulting in protein precipitation within the ductal lumen and loss of normal acinar cell function. Estimated gene frequency of cystic fibrosis varies in different ethnic groups with highest
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1. Describe the symptoms of cystic fibrosis. The different symptoms of cystic fibrosis include repeated infections and thick mucus secretions in the lungs‚ it affects you with wheezing‚ a chronic cough‚ bronchitis‚ asthma‚ weight loss‚ dehydration‚ and many more mainly affecting the lungs and stomach. Sufferers may also feel very fatigued easily. 2. Describe two problems associated with the presence of thick‚ sticky mucus (a) in the lungs and breathing passageways (b) in the digestive system
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