QUESTION IMAGE
Question
part 3
wild-type sequence:
atgtgccctttg...
individual 2:
atgtgacctttg...
what type of mutation does individual 2 have? select all that apply.
☐ missense
☐ deletion
☐ insertion
☐ silent
☐ frameshift
☐ nonsense
Brief Explanations
- First, compare the wild - type sequence (ATGTGCCCTTTG...) and Individual 2's sequence (ATGTGACCTTTG...). We can see that a base 'G' is replaced by 'A' (the third - fourth base: in wild - type it's 'TGCC' and in Individual 2 it's 'TGAC').
- A missense mutation is a point mutation that changes a single nucleotide, resulting in a codon that codes for a different amino acid. Since there is a single base substitution here, it can be a missense mutation.
- A silent mutation is a base substitution that does not change the amino acid encoded by the codon. But we don't know if this substitution changes the amino acid yet, but the key here is the type of mutation (substitution). However, let's check other options:
- Deletion: There is no removal of a base, so deletion is out.
- Insertion: There is no addition of a base, so insertion is out.
- Frameshift: Frameshift mutations are caused by insertions or deletions of nucleotides that are not in multiples of three, which is not the case here (it's a single base substitution), so frameshift is out.
- Nonsense: A nonsense mutation changes a codon to a stop codon, and there's no indication of that here.
- The mutation here is a single - base substitution. A missense mutation is a type of single - base substitution that changes the amino acid, and it can also be considered. Wait, actually, the mutation here is a point mutation (substitution). The options: missense is a type of point mutation (substitution) that changes the amino acid. But also, is it silent? Wait, let's re - examine the sequences. The wild - type sequence segment: let's split into codons (assuming standard codon length, though we don't know the reading frame, but let's check the bases). The wild - type has "TGCC" (positions, say, 3 - 6: A T G T G C C C T T T G... so T G C (codon) and in Individual 2: T G A (codon). TGC codes for Cysteine, TGA is a stop codon? Wait, no, maybe I miscounted. Wait the wild - type is ATGTGCCCTTTG... so let's write the bases: A T G T G C C C T T T G... Individual 2: A T G T G A C C T T T G... So the change is at position 5 - 6 (if we start counting from 1: A(1), T(2), G(3), T(4), G(5), C(6) in wild - type; A(1), T(2), G(3), T(4), G(5), A(6) in Individual 2). So the codon (if we take codons as triplets: starting at 1: ATG (Met), TGC (Cys), CCT (Pro)... In Individual 2: ATG (Met), TGA (stop), CCT (Pro)... Wait, TGA is a stop codon. So this would be a nonsense mutation? Wait, I made a mistake earlier. But let's correct:
- Wild - type codon (assuming reading frame starts at 1): Codon 2: TGC (Cys), Codon 3: CCT (Pro).
- Individual 2 codon 2: TGA (stop), Codon 3: CCT (Pro).
- So the mutation is a point substitution (G→A at the second position of the codon TGC→TGA). TGA is a stop codon. So it's a nonsense mutation? Wait, no, maybe the reading frame is different. But regardless, the key is the type of mutation: it's a single - base substitution. So the possible mutations:
- Missense: if the substitution changes the amino acid (not to a stop codon).
- Nonsense: if it changes to a stop codon.
- But let's go back to the options. The original sequences: wild - type: ATGTGCCCTTTG..., Individual 2: ATGTGACCTTTG... So the change is C→A (at the position where the third C was? Wait no, wild - type has "TGCC" (T G C C) and Individual 2 has "TGAC" (T G A C). So the base C is replaced by A. So it's a single - base substitution.
- Deletion: no, because the length of the sequence segment is the same (the "CC" in wild - type and "AC" in Individual 2? Wait no, wild - type: ATGTGCCC…
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missense