Mutations To Know?

[MedPR]

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Are we expected to know anything about specific mutations for the MCAT?

Fragile-X, Kleinfelters, etc?

 

[mcloaf]

Are we expected to know anything about specific mutations for the MCAT?

Fragile-X, Kleinfelters, etc?

Knowing more can never hurt, but no, I don't believe you need to know anything like that. In my experience even the more specific MCAT bio trivia is more physiology-based rather than disease-specific.

 

[MedPR]

Ok. I was just asking because I did a question earlier about Kleinfelter's syndrome and it assumed you knew the genotype. I didn't/don't.

 

[411309]

im pretty sure you just need to know very basic stuff like missense mutations, nonsensce, frameshift, etc; not specific ones. theyd prob give you that in a passage.

 

[mcloaf]

im pretty sure you just need to know very basic stuff like missense mutations, nonsensce, frameshift, etc; not specific ones. theyd prob give you that in a passage.

Yup.

 

[MedPR]

im pretty sure you just need to know very basic stuff like missense mutations, nonsensce, frameshift, etc; not specific ones. theyd prob give you that in a passage.

Yup.

Ok thanks, I think I know those 🙂

The only ones that aren't obvious from the name are nonsense and missense, right?

nonsense = indel that produces a stop codon
missense = indel that does not produce a stop codon, but does produce a different AA
silent = indel that produces a different codon that codes for the same AA

Are those correct?

 

[411309]

Ok thanks, I think I know those 🙂

The only ones that aren't obvious from the name are nonsense and missense, right?

nonsense = indel that produces a stop codon
missense = indel that does not produce a stop codon, but does produce a different AA
silent = indel that produces a different codon that codes for the same AA

Are those correct?

yep and remember that out of those three, nonsense is the most deadly, followed by missence, then silent.

 

[mcloaf]

Ok thanks, I think I know those 🙂

The only ones that aren't obvious from the name are nonsense and missense, right?

nonsense = indel that produces a stop codon
missense = indel that does not produce a stop codon, but does produce a different AA
silent = indel that produces a different codon that codes for the same AA

Are those correct?

Yes, except those are usually the results of substitutions/point mutations, not insertions/deletions. Insertions/deletions are going to give you a frameshift (in non-multiples of three), and more generally just **** up everything.

 

[MedPR]

yep and remember that out of those three, nonsense is the most deadly, followed by missence, then silent.

Where does it say that nonsense is the most deadly?

I can see how in certain situations a nonsense mutation would be very serious, but at the same time a missense could make all of the downstream AAs wrong and have the same effect as a nonsense mutation -- a useless protein.

 

[mcloaf]

Well, a missense MAY create a nonfunctional protein, while a nonsense will ALWAYS create a nonfunctional protein.

 

[MedPR]

Well, a missense MAY create a nonfunctional protein, while a nonsense will ALWAYS create a nonfunctional protein.

That's true, hadn't thought about it that way.