Mutations

Question 1

3 generalised types of mutations

Answer 1

1. Spontaneous
2. Mutagens
3. Transposons

Question 2

Define a transition

Answer 2

Changes a purine to a purine (A-G)

Or a pyrimidine to a pyrimidine (C-T)

Question 3

Define a transversion

Answer 3

Changes a purine to a pyrimidine (A-T)

Or a pyrimidine to a purine (C-G)

Question 4

Name the 3 STOP codons

Answer 4

TAA (UAA)
TAG (UAG)
TGA (UGA)

Question 5

Name the START codon and what protein it codes for

Answer 5

ATG (AUG) - Methionine

Question 6

What does INDELs stand for

Answer 6

Insertions or deletions and amino acids in the genetic sequence

Question 7

What causes exaggerated version of the wild type allele and creates a gain of function of the phenotype?

Answer 7

Hypermorph (dominant)

Question 8

What causes a different but dominant gain of function from the allele

Answer 8

Neomorph (dominant)

Question 9

What goes against the normal gene activity (eg binding to the substrate to prevent product)

Answer 9

Antimorph (dominant)

Question 10

What creates partial loss of gene function and can be temperature sensitive

Answer 10

Hypomorph (recessive)

Question 11

What mutation creates total loss of function

Answer 11

Null (recessive)

Question 12

What type of mutations (3) can cause a nonsense or frameshift changes

Answer 12

1. Null
2. Hypomorph
3. Antimorph

Question 13

What types of mutations (4) can cause missense and small INDEL changes

Answer 13

1. Null
2. Hypomorph
3. Hypermorph
4. Antimorph

Question 14

What types of mutation can cause silent change

Answer 14

Hypomorph

Question 15

What mutations (2) create point/small INDELs outside the coding region

Answer 15

1. Null

2. Hypomorph (splicing)

Question 16

What mutations (4) cause large INDELs or rearrangements

Answer 16

1. Null
2. Hypomorph
3. Hypermorph
4. Neomorph

Question 17

Genetic interactions - define a reversion

Answer 17

When a mutation that was showing a phenotype isn’t anymore