Term
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Definition
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Term
What is happens in single gene mutations? |
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Definition
the sequence of DNA nucleotides is altered |
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Term
Name the 3 different types of single gene mutation |
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Definition
Substitution, Insertion and Deletion |
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Term
Name the three types of substitution mutations. |
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Definition
missense, nonsense & splice site |
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Term
Describe a missense mutation |
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Definition
One amino acid is changed for another |
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Term
What could be the result of a missense mutation? |
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Definition
a non-functional protein or little effect on the protein |
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Term
What is the result of a nonsense mutation? |
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Definition
a shorter protein is formed |
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Term
The name given to the mutation resulting in a premature stop codon is produced |
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Definition
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Term
Name the type of mutations which can be described as frameshift |
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Definition
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Term
Why do frameshift mutations have a major effect on the structure of the protein produced? |
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Definition
all the codons , and so all of the amino acids after the mutation are changed |
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Term
What are the two possible outcomes of a splice site mutation? |
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Definition
some intons may be retained and /or some exons not being included in the mature transcript |
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Term
Name 4 types of chromosome structure mutations |
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Definition
Duplication, translocation, inversion and deletion |
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Term
Describe a translocation mutation |
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Definition
A section of chromosome is added to a chromosome, not its homologous partner |
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Term
What is the name for the mutation where a section of chromosome is reversed? |
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Definition
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