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7 Cards in this Set

  • Front
  • Back

Mutations



Mutations in a DNA sequence can occur spontaneously where errors occur during DNA replication, or they can be induced.



Mutations can affect a single DNA building block (base pair) or a large segment of a chromosome that includes multiple genes.


Types of mutations



• Point Mutations


• Insertion


• Deletion


• Translocation


• Duplication


• Mis-sense/Nonsense Mutations

Point Mutations


A point mutation is where a mutation occurs, and only affects one or very few nucleotides in a gene sequence and can have one of three effects.



There are two types of point mutations:


1. Base substitution - where one base is switched out with another.


2. Frame shift mutation - where one base is added or removed.








Example:



Original - THE TOY WAS OLD AND RED


Mutated stand - THE BOY WAS OLD AND RED


Insertion


Insertion is where one or more nucleotide base pairs are added into a DNA sequence. This usually occurs due to the DNA polymerase slipping.



An insertion mutation can be small where a single base pair is involved or large where a piece of chromosome is involved.




Example:



Original - THE TOY WAS OLD AND RED


Mutated strand - THE GGG AGT OYW ASO LDA NDR

Deletion


Deletion is basically the loss of genetic material. It is where part of a DNA sequence becomes missing and occurs when part of a DNA molecule is not copied during DNA replication.



A deletion mutation can be small where a single base pair is missing or large where a piece of chromosome is missing.

Example:



Original - THE TOY WAS OLD AND RED


Mutated strand - THE OYW ASO LDA NDR



(the letter T has been deleted)

Translocation


Translocations are a type of chromosome mutations where the chromosome segments change positions. Translocations which don't involve a loss or gain or genetic material often show no harmful effects.



Intrachromosomal - within a chromosome


Interchromosomal - between chromosomes



<---- Example

<---- Example


Duplication


Duplication is where a portion of genetic material or a chromosome is replicated which results in multiple copies of that DNA strand.



Duplication is the opposite of deletion and is important in the evolution of the genomes of many organisms.

Example:



Original - THE TOY WAS OLD AND RED


Mutated strand -THE TOY WAS OLD AND THE TOY WAS OLD AND THE TOY WAS OLD AND RED

Mis-sense mutations



A mis-sense mutation is where single base pairs change which causes there to be a substituted different amino acids instead of the protein.



Although, this substitution may have no effect there is a possibility that it may cause the protein to become unfunctionable.


Nonsense mutations



This is where a 'STOP' codon is produced too early on in the DNA sequence and therefore the DNA sequence ends in the incorrect space.



Due to this, there is a possibility that the protein cannot be created at all.