Mutations

Question 1

What is a single gene/point mutation

Answer 1

The alteration of a DNA nucleotide sequence by substitution, insertion or deletion of nucleotides.

Question 2

Name three types of nucleotide substitutions

Answer 2

Missense
Nonsense
Splice site

Question 3

What is a missense mutation

Answer 3

Results in one amino acid being changed for another

Question 4

What is a nonsense mutation

Answer 4

Premature stop codon produced results in a shorter protein.

Question 5

What is a splice site mutation

Answer 5

Some introns retained or some exons not being included in the mature transcript.

Question 6

Which single mutations

results in frame shift mutations

Answer 6

Insertion and deletion

Question 7

What is a frame shift mutation

Answer 7

Cause all codons and all of amino acids after the mutation to be changed. Major effect on protein structure produced

Question 8

What are the 4 chromosome mutations

Answer 8

Duplication
Deletion
Inversion
Translocation

Question 9

What is a translocation mutation and effect it has

Answer 9

Where a section of a chromosome is added to another chromosome which is not its homologous partner.
Lethal effects

Question 10

What is a duplication mutation and why is it beneficial

Answer 10

Where a section of a chromosome is added to its homologous partner.
Allows potential beneficial mutations to occur in the duplicated gene whilst the original gene can still be expressed to produce its protein.