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Discuss, in detail, the role played by DNA and RNA in genetic diseases. What are the...
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High School Teacher
Typically DNA is the issue in a genetic disease. These diseases result from an inherited mutation in a gene, or segment of DNA, that controls the production of a specific protein or enzyme necessary for a metabolic function. The mutation, which is a change in the base sequence of the DNA, results in improperly coded messenger RNA, which results in the protein being either incorrectly made, or not made at all.
Phenylketonuria, or PKU, is a good example of a breakthrough in a genetic disease. This is a recessive disorder resulting from a single mutation; patients are unable to metabolise the amino acid phenylalanine, causing it to build up in the blood and body tissues, where it can cause a lot of damage. While PKU cannot be cured, there is a simple treatment - avoid eating foods with phenylalanine in them. A blood test for PKU is administered to most newborns in the US.
Going a step further, British researchers have now cured several sufferers of hemophilia B, a hereditary form of hemophilia. This was accomplished by injecting the patients with non-mutated copies of the gene responsible for the disease; the genes were inserted into a custom virus, which delivered the genetic material into the patients' cells.
Posted by pacorz on May 21, 2012 at 7:51 PM (Answer #1)
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