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Types of Mutations The power of the BASE!! . A MUTATION is a change in the DNA Chromosomal Mutations – affect MANY genes ex. Down syndrome 2) ***Gene mutations- affect a SINGLE gene – smaller effect . Frameshift Mutations Insertion – a new base is ADDED to a codon

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Presentation Transcript
slide2

A MUTATION is a change in the DNA

  • Chromosomal Mutations – affect MANY genes ex. Down syndrome

2) ***Gene mutations- affect a SINGLE gene – smaller effect

slide3

Frameshift Mutations

    • Insertion – a new base is ADDED to a codon

INSERT A “G” 

ex. AUG UAC GGU

AUG GUAC GGU

AUG GUA CGG U

2. Deletion – a base is REMOVED from a codon

REMOVE THE “U” 

ex. AUG UAC GGU

AUG AC GGU

AUG ACG GU

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Huntington Disease: Caused by an Insertion Mutation. You die young (40s or 50s) but you don’t normally know you have it until after you have passed it on to your children.

slide5

Cystic Fibrosis is a disease sometimes caused by a deletion of a single T base. The hallmark symptoms of cystic fibrosis are salty tasting accumulation of thick, sticky mucous, frequent lung infections, coughing, shortness of breath.

  • Inherited (Recessive Trait)
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ii. Point Mutation (base substitution) one base isEXCHANGEDfor another

1. Missense- a NEW amino acid is coded for

Ex. UUU is Phenylalanine

Ex. UUA is Leucine

slide7

Sickle cell anemia is caused by a single base substitution!!! The “sickle” shaped red blood cells don’t carry oxygen as well.

examples of disease caused by silent mutations
Examples of disease caused by SILENT mutations….????

2. Silent – no CHANGE in the amino acid sequence

Ex. CCC is Proline

Ex. CCG is Proline

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3. Nonsense- A STOPcodon before gene is done being translated (Stop codons are UAA, UAG, UGA)

Ex. UGG is Tryptophan but UGA is STOP

!

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The disease causes muscle weakness. It usually leads to death by the mid 30s because muscles used to breathe also get weaker.

Duchenne’s Muscular dystrophy can be caused by a nonsense mutation. Look how much shorter the protein is.

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