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Mutations

QuestionAnswer
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
Created by: Jake_Bark