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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