Unit 1 Key Area 4

Question 1

What do single gene mutations involve?

Answer 1

substitution, insertion or deletion of nucleotides.

SID

Question 2

Misense

Answer 2

Results in one amino acid being changed for another

May result in a non-functioning protein or have little effect on the protein

Question 3

Nonsense

Answer 3

Results in a premature stop codon being produced

Which results in a shorter protein

Question 4

Splice Site

Answer 4

Results in some introns being retained or some exons not being retained

Question 5

Insertion example

Answer 5

Adding another Guanine

Question 6

Deletion example

Answer 6

Deleting cytosine

Question 7

4 Chromosome structure mutations

Answer 7

TIDD
Translocation
Inversion
Duplication
Deletion

Question 8

Duplication

Answer 8

Where a section of chromosome is added from its homologous partner

Question 9

Deletion

Answer 9

Where a section of chromosome is removed

Question 10

Inversion

Answer 10

Where a section of chromosome is reversed

Question 11

Translocation

Answer 11

Where a section of a chromosome is added to a chromosome not its homologous partner