Unit 1 : Mutations

Question 1

Give a definition for a mutation

Answer 1

A change in the structure or composition of an organisms genome and it either results in no protein or an altered protein being produced.

Question 2

State 3 times of mutagenic agents

Answer 2

• Radiation
• Chemicals
• infections Agents

Question 3

What are the three types of singe gene mutations

Answer 3

Insertion
Deletion
Substitution

Question 4

What are the four types of chromosome structure mutations

Answer 4

Deletion
Duplication
Inversion
Translocation

Question 5

What is the difference between insertion and deletion?

Answer 5

Insertion means a nucleotide is added to the sequence whereas in deletion one is removed

Question 6

True or False ?
Frameshift is a result of insertion

Answer 6

False it is a result or insertion AND deletion

Question 7

What happens during a substitution mutation ?

Answer 7

A nucleotide in the sequence is swapped with another nucleotide

Question 8

What are the three types of substitution mutations ?

Answer 8

• Missense
• Nonsense
• Splice- Site

Question 9

What does missense result in ?

Answer 9

One amino acid being changed for another leading to a non functional proteins or best case one with little affected

Question 10

True or False ?

A nonsense mutation is when a stop codon doesn’t get produced .

Answer 10

False it’s when a premature stop codon gets produced leading to a much shorter proteins

Question 11

What occurs in splice- site mutations ?

Answer 11

Some introns get retains and some exons don’t get included in the mature transcript

Question 12

State the four types of chromosome structure mutation

Answer 12

-Deletion
- Inversion
-Duplication
-Translocation

Question 13

True or False ?
If not what would make it true?

Deletion is where a section of a chromosome is added from its homologous partner .

Answer 13

False
That is duplication
Deletion is where a section of a chromosome is removed

Question 15

What is inversion?

Answer 15

Is when a section of a chromosome is reversed

Question 16

What is the type of chromosome mutation when a section of a chromosome is added to a chromosome NOT its homologous partner ?

Answer 16

Translocation