Science Buddies: "Ask an Expert"

I am doing the project "From Genes to Genetic Diseases: What Kinds of Mutations Matter?"
I am stuck on my hypothesis. I'm not sure if I am just stating which alleles will be pathogenic or non pathogenic or what. Any help would be much appreciated!

Hi,

For this particular project, there are several questions you can ask, the overarching question is why do some mutations in the same gene cause disease while another mutation does not cause disease?


For your hypothesis you probably want to make a broad statement about which types of mutations do you think will be pathogenic (what are the commonalities/major differences between mutations that cause a disease and those that do not cause a disease?)

For a hypothesis you want to talk about what you think will happen and why you think that way (which mutations will cause a disease, and why will those particular mutations cause a disease).

For example you might think about if it matters if the mutation is pathogenic only if it occurs in the beginning of the gene (or at the end). Or if it matters whether the mutation leads to a change in the amino acids in the protein. Think about what type of change is likely to be most important.

Hope this helps. If you are still confused, let us know.

Thanks that helped a ton.
So to clarify, my hypothesis should predict which type of mutation is pathogenic. (for example Insertion, deletion, etc?)

Hi, I just wanted to add that genes code for proteins. Proteins typically have specific regions that carry out the main function of the protein. For example, a protein that breaks down fats will have a specific region of the protein (called the active site) dedicated to this function. That region could be very small with just a few amino acids that take part in this. If one of those amino acids is affected by a genetic mutation, it will usually affect the function of the protein and would be pathogenic. Other regions of a protein could be dedicated to other things like anchoring the protein to a membrane.

Just to clarify, genetic mutations that affect the function of the proteins they code for are generally the pathogenic mutations.

I hope this helps!
Jen