Mutation Flashcards

You may prefer our related Brainscape-certified flashcards:
1
Q

What are Mutations?

A

Mutations are changes in the DNA that
can result in no protein or an altered protein
being synthesised.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the three types of gene mutation?

A

Substitution, Insertion, Deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What are the three sub-types of a substitution mutation

A

Missense, Nonsense, Splice site

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What is a Missense mutation?

A

Missense mutations result in one amino acid being changed for another. This may result in a non-functional protein or have little effect on the protein.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What is a nonsense mutation?

A

Nonsense mutations result in a premature stop codon being produced which results in a shorter protein.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are splice site mutations?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Nucleotide insertions and deletions result in what?

A

Frame shift mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What are frame shift mutations?

A

Frame shift mutations cause all of the codons and all of the amino acids after the mutation to be changed. This has a major effect on the structure of the protein produced.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What are the 4 types of Chromosome structure mutations?

A

Translocation, Inversion, Duplication and Deletion

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What is a Duplication chromosome mutation?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is a deletion chromosome mutation?

A

Deletion is where a section of a chromosome is removed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is an inversion chromosome mutation?

A

Inversion is where a section of chromosome is reversed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What is a translocation chromosome mutation?

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the overall effect of chromosome mutations.

A

These substantial changes in chromosome mutations often make them lethal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What is the overall effect of chromosome mutations.

A

These substantial changes in chromosome mutations often make them lethal.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is an example of a Chromosome deletion mutation?

A

Cri-du-chat syndrome, caused by deletion of part of the short arm of chromosome 5

17
Q

What is an example of a chromosome duplication mutation?

A

Duplication of Oncogenes is a common case of Cancer

18
Q

What is an example of a chromosome Translocation mutation?

A

Chronic myeloid leukaemia is caused by a reciprocal translocation of sections of chromosome 22 and chromosome 9.

19
Q

What is an example of an chromosome inversion mutation?

A

Haemophillia A can be caused by an inversion within the gene that produces the clotting factor (factor VIII)

20
Q

What is an example of a Missense substitution?

A

Phenylketonuria, Sickle cell disease.

21
Q

What is an example of a nonsense substitution?

A

Duchenne muscular dystrophy

22
Q

What is an example of a splice site mutation?

A

Beta thalassemia

23
Q

What is an example of Frame shift insertions and deletions?

A

Tay-Sachs disease

24
Q

What is an example of a frame-shift deletion?

A

Cystic Fibrosis