Ka 6

Question 1

Describe what a mutation is

Answer 1

Changes in the DNA that can result in no protein or a protein an altered protein being synthesised

Question 2

Name the types of mutations

Answer 2

Single gene mutation
Chromosome structure mutation

Question 3

Give the definition of a single gene mutation

Answer 3

Single gene mutation involve the alteration of a dna nucleotide sequence as a result of the substitution, insertion or deletion of nucleotides

Question 4

Describe what a missense mutation is

Answer 4

Results in one amino acid being changed for another and may result in a non functional protein or have little effect on protein

Question 5

Name the type of single gene mutation that may result in a missens mutation

Answer 5

Substitution

Question 6

Describe what a nonsense mutation is

Answer 6

Nonsense mutation can result in a premature stop codon being produced which results in a shorter protein

Question 7

Describe what a splice site mutation

Answer 7

Splice site mutations result in some introns being retained or some exons not being included in the mature transcript

Question 8

Describe what frame shift mutation is

Answer 8

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

Question 9

Give 3 examples of single gene mutations

Answer 9

Insertion
Deletion
Substitution

Question 10

Give 4 examples of chromosome structure mutations

Answer 10

Deletion
Duplication
Translocation
Inversion

Question 11

Identify the gene point mutation
Abc def ghi
Abc dxe fgh I

Answer 11

Insertion

Question 12

Identify the mutation
ABC def ghi
Acd efg hi

Answer 12

Deletion

Question 13

Identify the gene point mutation
ABC def ghi
ABC dex ghi

Answer 13

Substitution

Question 14

Identify the chromosome structure mutation abc def ghi
Abc def def ghi

Answer 14

Duplication

Question 15

Identify the chromosome structure mutation
ABC def ghi
ABC ghi

Answer 15

Deletion

Question 16

Identify this chromosome structure mutation abc def ghi —-> abc 456 ghi
123 456 123 def

Answer 16

Translocation

Question 17

Identify this chromosome structure mutation
ABC def ghi
ABC fed ghi

Answer 17

Inversion

Question 18

Describe what happens during a duplication chromosome structure mutation

Answer 18

Duplication is where a section of a chromosome is added from it’s homologous partner

Question 19

Describe what happens during a deletion chromosome structure mutation

Answer 19

Deletion is where a section of a chromosome is removed

Question 20

Describe what happens during a translocation chromosome structure mutation

Answer 20

Translocation is where a section of a chromosome is added to a chromosome not its homologous partner

Question 21

Substantial changes in chromosomes can often be

Answer 21

Lethal

Question 22

Why are mutations important in evolution

Answer 22

Mutations are the only source of new alleles

Question 23

Why is gene duplication important in evolution

Answer 23

Duplication allows potential beneficial mutations to occur in a duplicated gene whilst the original gene can still be expressed to produce its protein

Question 24

Describe what happens during an inversion chromosome structure mutation

Answer 24

Inversion is where a section of chromosome is reversed