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Cystic Fibrosis

Posted: Thu Apr 18, 2013 8:12 pm
by mapostol
Hello, we are a group from CHS, and we had several questions about the CFTR gene.
Why is the flow of chloride ions between cells necessary for survival?

During the lab, when we mutated several genes, but they encoded the same amino acid. Why did this happen?

A gene that codes for a polar, uncharged amino acid is changed to another polar uncharged amino acid. Does this affect the cell? Does changing from a polar uncharged amino acid to a nonpolar amino acid have a greater effect on the cell?

What are ATP-binding cassette transporters?

Thanks!

Re: Cystic Fibrosis

Posted: Fri Apr 19, 2013 6:54 pm
by sarahlaugtug
Hello mapostol,

Thank you for your questions. It sounds like you are doing a complex genetic project. What is your project? Did you get it from this website?
I will try to help you as best as I can. This isn't my field of expertise, but I will explain what I know.

mapostol wrote:Why is the flow of chloride ions between cells necessary for survival?

As you may know, the passage of different ions have different effects on cells. You want to research the topic of "cell ion transportation," to get an idea of how they work. Chloride channels are necessary to life for cell volume, cell solid transport, regulation of pH, etc. Correct me if I am wrong, but CFTR is responsible for the degradation/ decrease function of Chloride channels. So, with a decrease of channels, cells have an imbalance of NaCL--this creates the thick mucus seen with CF.
http://physrev.physiology.org/content/82/2/503.full
http://en.wikipedia.org/wiki/Cystic_fibrosis

mapostol wrote:During the lab, when we mutated several genes, but they encoded the same amino acid. Why did this happen?

I'm not really sure about this, without knowing more, but it could be a number of things. How did the rest of your data look, did it make sense to you, or did it give you the results you were expecting? Depending on what codons you have, you may have gotten overlap, since there are only 20 amino acids, but 64 different codons--there will be overlap.
http://www.soc-bdr.org/rds/authors/unit ... ex_en.html

I'm sure you have already checked this resource?
http://www.ncbi.nlm.nih.gov/
http://upload.wikimedia.org/wikipedia/c ... ations.svg

mapostol wrote:Does changing from a polar uncharged amino acid to a nonpolar amino acid have a greater effect on the cell?

Well I'm not sure what you mean by "greater effect?" It depends what the amino acids code for. Missense mutations change the polarity of the molecule, which would be important to your research. It depends on what the mutation causes.

What are ATP-binding cassette transporters?
I only know that their function is involved with uptake of solutes across the cell membrane. I honestly don't know much more than that. here is an article that may help.
http://www.annualreviews.org/doi/abs/10 ... 303.073626