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Chapter 9

BIOL*1040 Chapter 9

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University of Guelph
BIOL 1020

Kaelan Parker 0744523 BIOL*1080 Cystic Fibrosis Diagnosis In the case of cystic fibrosis, or CF, there are not really any sub clinical, or early warning signs of cystic fibrosis. The only way of having cystic fibrosis is by having two mutated CFTR genes. If an individual possesses only a single mutated CFTR gene then they still will not have cystic fibrosis. However, this person is considered to be a carrier, meaning they can pass this mutated gene on to their child/children. If two carriers both pass on this mutated gene, then the child will have cystic fibrosis. So basically, one either does or does not have cystic fibrosis, but can potentially pass on a mutated CFTR gene to their child/children. There are a number of ways in which people could be tested for cystic fibrosis and the mutated CFTR gene. But one of the most popular of these methods of testing for cystic fibrosis in an individual is by using the simple salt test. The salt test is conducted by using an electrical current to push medicine into the tissue of the patient. This medicine causes the patient to sweat. Then the chloride ion concentration in the patients sweat is measured. If the concentration is 80mmol/L, then the person is said to have cystic fibrosis (eMedicine.Net 2011). The theory behind the salt test is that, a dysfunctional CFTR protein does not move chloride ions outside of the cell. Therefore the concentration of these chloride ions builds up and indicates a dysfunctional CFTR protein, and therefore a mutated CFTR gene (Learn Genetics 2011). Another common way of diagnosing patients who suffer from cystic fibrosis is by genotyping. Genotyping consist of examining ones DNA and looking for a mutation in the CFTR gene on the individuals DNA. There are 500 known mutations of the CFTR gene that would result in the patient having cystic fibrosis. Of these 500 mutations, only 70 can be tested for. This seems like a very small percentage but in actuality, the 70 mutations that are tested for can account for 90 percent of all cystic fibrosis cases (New England Journal of Medicine 2011). This means that genotyping cannot be a complete diagnosis for cystic fibrosis since it can only test 90 percent of cases, but it provides a very good indicator of the chances of one having cystic fibrosis. There are some tests or conditions that can be looked for as an indicator of having cystic fibrosis. These are not considered to be diagnoses of cystic fibrosis since they do not actually tell whether or not an individual is suffering from a mutated CFTR gene but they can be used as a warning sign. An
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