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Mutations
Question | Answer |
---|---|
Where do germ line mutations occur? | Gametes |
Where do somatic mutations occur? | Somatic cells of the body |
What is a conditional mutation? | Mutation is only expressed in certain environmental conditions |
What is a loss-of-function mutation? | Loss of gene product |
What is a hypomorphic mutation? | Reduced gene expression |
What is a hypermorphic mutation? | Increased expression of gene |
What is a gain-of-function mutation? | Gene expresssion where it shouldn't be (ectopic expression) |
What is a transition nucleotide substitution? | Where a purine is replaced by a purine or pyramiding is replaced by a pyrimidine |
What is a transversion nucleotide substitution? | Where a purine/pyrimidine is replaced by a pyrimidine/purine |
What is a silent mutation? | Occurs in the non-coding region or does not change the amino acid sequence due to the degeneracy of the genetic code |
What is a missense mutation? | A single nucleotide substitution which changes the sequence of the amino acid |
What is a nonesense mutation? | What a single nucleotide substitution changes the codon for an amino acid, to a stop codon |
What is a frame shift mutation? | An addition/deletion of a nucleotide, which shifts the whole reading frame |
The cell can use damage prevention. What happens here? | The cell has enzymes that can detoxify mutagens |
The cell can use damage reversal. What happens here? | Thymine diners can be excised and replaced |
The cell can use mismatch repair. What happens here? | |
The cell corrects the errors it has made in DNA replication |