Mutation and Repair Flashcards Preview

Fundamentals of Molecular Medicine > Mutation and Repair > Flashcards

Flashcards in Mutation and Repair Deck (34):
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The Genetic Code

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Explain the concept of "Reading Frame" in protein translation

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What are the 3 Point Mutations?

 

 

Silent 

Missense

Nonsense

 

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Point Mutation

 

 

 

A single Base Change

 

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Silent Mutation 

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Missense

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Nonsense Mutation

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Insertion/Deletion

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Types of Mutations (IN RNA) upon transcription...

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Sickle Cell Disease

What type of mutation is it?

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Explain the mutation of Sickle Cell Disease

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What type of mutation is Beta Thalessemia?

What causes the mutation?

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Explain Thalessemia Syndromes

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14

 

 

 

Frameshift Mutation

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15

 

 

 

Why is living dangerous for your DNA?

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Mismatch Repair

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Defects in DNA Repair Genes

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Lynch Syndrome

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Spontaneous Base Hydrolysis Reactions

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What happens when you smoke...

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Effect of Solar Radiation

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Explain How Sunscreen Works

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23

 

 

 

Nucleotide Excision Repair

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Why would we damage DNA on Purpose?

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Xeroderma Pigmentosum

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MSH 2,3,6 MLH1, PMS2

Phenotype and Process Effected

 

 

Colon Cancer

Lynch Syndrome

Mismatch Repair

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Clinical Aspects of Xerderma Pigmentosum

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XP-A

 

 

 

NER Mutation

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XP-B

 

 

NER Mutation

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XP - C

 

 

 

NER Mutation

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XP-D

 

 

 

NER Mutation

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32

 

 

 

XP-E

 

 

 

NER Mutation

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33

 

 

 

XP-F

 

 

 

NER Mutation

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34

 

 

 

XP - G

 

 

 

NER Mutation

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