1.4- mutations

Question 1

what is a mutant organism?

Answer 1

when a change to the genotype results in a change to the phenotype

Question 2

3 types of single gene mutations

Answer 2

substitution

deletion

insertion

Question 3

what is substitution?

Answer 3

bases are switched

Question 4

what is deletion?

Answer 4

base is deleted

shifts the reading frame and all amino acids upstream

Question 5

what is insertion?

Answer 5

base is added in

shifts the reading frame and all amino acids downstream

Question 6

what 2 mutations result in a frame shift mutation?

Answer 6

insertion

deletion

Question 7

2 effects of frame shift mutations

Answer 7

cause all of the codons and amino acids after the mutation to be changed

major effect of the structure of the protein produced

Question 8

3 nucleotide substitutions

Answer 8

missense

nonsense

splice-site

Question 9

what is a missense mutation and what is its effect?

Answer 9

amino acid code altered to a different amino acid

could change protein shape, resulting in a non-functional protein or have no effect

Question 10

what is a nonsense mutation and what is its effect?

Answer 10

change in code creates a stop codon

protein will be shorter and may be non-functional

Question 11

what is the effect of a splice-site mutation?

Answer 11

result in some introns being retained and/or some exons not included in the mature transcript

Question 12

4 chromosomal mutations

Answer 12

deletion

duplication

inversion

translocation

Question 13

what does deletion do?

chromosomal mutation

Answer 13

section of a chromosome is removed

Question 14

what does duplication do?

Answer 14

section of chromosome is added from its homologous partner

Question 15

what does inversion do?

Answer 15

section of chromosome is reversed

Question 16

what does translocation do?

Answer 16

section of chromosome is added to a chromosome other than its homologous partner