inherited diseases - cystic fibrosis

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Akshay Chopra Inherited diseases – cystic fibrosis About 1 out of 201 Caucasian people carries at least one of the fatal defective genes that cause cystic fibrosis, CF, or mucoviscidosis (in Europe) although carriers don't show any signs of the disease. Therefore, 10 million2 people carry the defective gene and aren't aware of it. Consequently, it makes it one of the most common genetic defect in the United States. CF is a autosomal recessive gene. That means that it may, but doesn't always skip generations. In order to get this disease, both parents must be carriers. If one parent has CF and the other one is not a carrier than there is a 100% chance that their child will be a carrier. If one parent has CF and the other is a carrier than the child has a 50% chance of having CF and a 50% chance of just being a carrier. If both parents are carriers than their child will have a 25% of having CF, a 50% chance of being a carrier and a 25% chance of not being affected. CF is common in both males and females, there is not a specific sex that it is more common in. How does a person know if they have CF? There are many symptoms to this deadly disease including: salty tasting skin, constant coughing, large amounts of mucus, trouble gaining weight, frequent greasy, foul smelling bowel, growths in the nose (nasal polyps) and clubbed or enlarged fingertips and toe tips is another symptom. Now there are many tests that can be done to find put if a person has CF. One way which CF can be detected is to observe the symptoms. A person doesn't need to have all the symptoms in order to have cystic fibrosis, but they usually show most of them. Another way are different genetic testing. Doctors can now do genetic testing for CF, but about 10 years ago they couldn't. In 1989, the location where the of the defective gene on chromosome number 7 is was discovered by Francis S. Collins from University of Michigan. Tests can now be taken to see if an unborn child is infected with CF such tests are amniocentesis, chronic villus biopsy3 and a removal of cells from the embryo during invitro. Many years ago, New York4 had a heat wave, and the hospitals became overwhelmed with dehydrated CF children. These children became dehydrated much quicker than
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children without the disorder. Thus eventually resulting in the formation of the sweat test which is now the standard test. Doctors place a pad or filter paper on a patients arm or back. A chemical called Pilocarpine, makes a burst of electricity to produce more sweat. Then the pad is wrapped in plastic and is sent to a lab to get analyzed. The doctors then would look for a high chloride content in the sweat. Another test is a blood test that is administered 3 days after a baby is born. It is called Immunoreactive Trypsinogen5 if that comes back ...

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