The following are descriptions of three single gene mutations - Scottish Highers Human Biology - Question 4 - 2015
Question 4
The following are descriptions of three single gene mutations.
Description 1: exon-intron codons are created or destroyed
Description 2: one amino acid codon is repl... show full transcript
Worked Solution & Example Answer:The following are descriptions of three single gene mutations - Scottish Highers Human Biology - Question 4 - 2015
Step 1
Description 1: exon-intron codons are created or destroyed
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Answer
This describes a splice site mutation, where the splicing of introns and exons can lead to the creation or destruction of exons.
Step 2
Description 2: one amino acid codon is replaced with another
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Answer
This describes a missense mutation, where one amino acid codon is swapped for another, potentially altering the protein's function.
Step 3
Description 3: one amino acid codon is replaced with a stop codon
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Answer
This describes a nonsense mutation, which results in a prematurely terminated protein.
Step 4
Which line in the table below matches the descriptions with the correct gene mutation?
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Answer
The correct answer is D, which aligns the descriptions as follows:
Misense: 2
Nonsense: 3
Splice site: 1
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