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15.9- Mutation Flashcards
Flashcards on Mutation
14
Biology
Undergraduate 1
10/09/2010

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Term
Point Mutation
Definition
Mutation that alters a single base
Term
Base Substitution Mutation
Definition
The substitution of one base pair for another
Term
Silent Mutation
Definition
If the new codon from the base substitution still encodes the same amino acid
Term
Missense Mutation
Definition
When the base substitution changes an amino acid in a protein, in turn changing the sense of the codon produced.
Term

Transition

Transversion

Definition

Transition changes pyrimidine base pairs to a different pyrimidine base pair or purine base pair to different purine

Transversion changes pyrimidine to purine or purine to pyrimidine

Term
Nonsense Mutation
Definition
When a base is changed that causes a transcribed codon to a stop codon which doesnt make sense to the translation apparatus
Term
Frameshift Mutation
Definition
The addition or deletion of a single base which causes an altered reading frame in the mRNA downstream of the mutation
Term
Triple Repeat Expansion Mutations
Definition
A triplet sequence of DNA that is repeated
Term
Chromosomal Mutations
Definition
Any mutation that affects chromosomal structure
Term
Deletion
Definition
Loss of a portion of a chromosome
Term
Duplication 
Definition
The duplication of a region of chromosomes which may lead to phenotypic consequences.
Term
Tandem Duplication
Definition
Occurs next to the original region.
Term
Inversion
Definition
Results when a segment of a chromosome is broken in two places, reversed, and put back together.
Term
Translocation
Definition
Wen a piece of one chromosome is broken off an joined to another chromosome.
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