Mutations To Know?

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MedPR

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

Fragile-X, Kleinfelters, etc?

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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.
 
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.
 
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.
 
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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.


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