Name the 3 single gene mutations

1. insertion 2. deletion 3. substitution

Describe the impact of a frameshift mutations on the gene.

affects all codons AFTER the mutation.

Describe the impact of a frameshift mutation on the protein

affects all amino acids after the mutation. Protein non functional.

Describe what is meant by an insertion mutation

A BASE is added into the sequence.

Describe what is meant by a deletion mutation.

A BASE is removed from the sequence.

Describe what is meant by a substitution mutation.

A BASE is swapped in the sequence.

State what is altered in chromosome structure mutations

A section of a chromosome OR a gene

Name the 4 chromosome structure mutations

1. Translocation 2. Inversion 3. Deletion 4. Deletion

Describe a translocation mutation

When a section of chromosome is added to its NON homologous partner.

Describe an inversion mutation

When a section of chromosome is reversed.

Describe a duplication mutation

When a section of chromosome is added to its homologous partner.

Describe a deletion mutation

When a section of chromosome is removed.

Name the 3 types of substitution mutation

1. missense 2, non sense 3, splice site

Explain what is meant by a mis sense mutation

Only 1 codon is affected. Protein often still functional.

Explain what is meant by a nonsense mutation

A premature stop codon causes protein to be too short and non functional

Explain what is meant by a splice site mutation

An intron is left in mature transcript resulting in a non functional protein.

Which type of mutation tends to have a larger effect on a protein: insertion/deletion OR substitution

insertion/deletion (they are frameshift affecting ALL codons where substitution only affects 1 codon),

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Mutations

Learn about mutations

Question	Answer
Name the 3 single gene mutations	1. insertion 2. deletion 3. substitution
Name the two frameshift mutations	insertion and deletion
Describe the impact of a frameshift mutations on the gene.	affects all codons AFTER the mutation.
Describe the impact of a frameshift mutation on the protein	affects all amino acids after the mutation. Protein non functional.
Describe what is meant by an insertion mutation	A BASE is added into the sequence.
Describe what is meant by a deletion mutation.	A BASE is removed from the sequence.
Describe what is meant by a substitution mutation.	A BASE is swapped in the sequence.
In single gene mutations what is altered each time	The BASES/base sequence
Which type of mutation is more lethal: single gene mutations OR chromosome structure.	chromosome structure
State what is altered in chromosome structure mutations	A section of a chromosome OR a gene
Name the 4 chromosome structure mutations	1. Translocation 2. Inversion 3. Deletion 4. Deletion
Describe a translocation mutation	When a section of chromosome is added to its NON homologous partner.
Describe an inversion mutation	When a section of chromosome is reversed.
Describe a duplication mutation	When a section of chromosome is added to its homologous partner.
Describe a deletion mutation	When a section of chromosome is removed.
Which type of chromosome structure mutation can be an evolutionary advantage	duplication
Explain why duplication mutations are of an evolutionary advantage.
Name the 3 types of substitution mutation	1. missense 2, non sense 3, splice site
Explain what is meant by a mis sense mutation	Only 1 codon is affected. Protein often still functional.
Explain what is meant by a nonsense mutation	A premature stop codon causes protein to be too short and non functional
Explain what is meant by a splice site mutation	An intron is left in mature transcript resulting in a non functional protein.
Which type of mutation tends to have a larger effect on a protein: insertion/deletion OR substitution	insertion/deletion (they are frameshift affecting ALL codons where substitution only affects 1 codon),

Created by: brightminds

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