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Cystic Fibrosis and Point Mutations

If both parents must have a point mutation in their CF genes in order to create a child with CF, how common do you think the disease is in the population? Explain.

Why do you think another mistake doesn't just "correct" the mutation in an abnormal CF gene? What do you think the chances of this occurring would be? Compare this likelihood to the chance of some other event happening.

What other diseases are thought to be caused by point mutations? What do point mutations do in those diseases?

If you discovered through genetic testing that your best friend's child had CF, what advice would you give your friend about treatments? What about resources your friend might find useful?

Using what you know about point mutations and their potential effects, explain why it might be extremely risky for pregnant women to expose themselves to mutagens (things that cause mutations) during pregnancy. How can we determine a safe level of exposure?

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Cystic fibrosis is an autosomal recessive disease, which means to have cystic fibrosis you must carry two copies of the gene. While you may think this would make it a rare disease, it is actually very common. About 30,000 children and adults have cystic fibrosis and it is estimated that about 10 to 12 million Americans are carriers. Every year there are about 2,500 babies born with cystic fibrosis in the U.S.

The most likely reason that this disease is so common is that there are about 1,400 different mutations that can occur in this one gene can cause cystic fibrosis.

Mistakes can cause reading errors in DNA, making some proteins inactive and others active, which can lead to some serious problems, like cystic fibrosis. The rate at which mutations occur can vary according to species and the location of genes in the genome. Reversions, a ...

Solution Summary

This solution contains detailed information on cystic fibrosis, point mutations, and pregnancy risks when exposed to mutagens. There are also several links included that contain much more information, if it is necessary.