Mutation and Repair Flashcards Preview

Fundamentals of Molecular Medicine > Mutation and Repair > Flashcards

Flashcards in Mutation and Repair Deck (34)
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1
Q

The Genetic Code

A
2
Q

Explain the concept of “Reading Frame” in protein translation

A
3
Q

What are the 3 Point Mutations?

A

Silent

Missense

Nonsense

4
Q

Point Mutation

A

A single Base Change

5
Q

Silent Mutation

A
6
Q

Missense

A
7
Q

Nonsense Mutation

A
8
Q

Insertion/Deletion

A
9
Q

Types of Mutations (IN RNA) upon transcription…

A
10
Q

Sickle Cell Disease

What type of mutation is it?

A
11
Q

Explain the mutation of Sickle Cell Disease

A
12
Q

What type of mutation is Beta Thalessemia?

What causes the mutation?

A
13
Q

Explain Thalessemia Syndromes

A
14
Q

Frameshift Mutation

A
15
Q

Why is living dangerous for your DNA?

A
16
Q

Mismatch Repair

A
17
Q

Defects in DNA Repair Genes

A
18
Q

Lynch Syndrome

A
19
Q

Spontaneous Base Hydrolysis Reactions

A
20
Q

What happens when you smoke…

A
21
Q

Effect of Solar Radiation

A
22
Q

Explain How Sunscreen Works

A
23
Q

Nucleotide Excision Repair

A
24
Q

Why would we damage DNA on Purpose?

A
25
Q

Xeroderma Pigmentosum

A
26
Q

MSH 2,3,6 MLH1, PMS2

Phenotype and Process Effected

A

Colon Cancer

Lynch Syndrome

Mismatch Repair

27
Q

Clinical Aspects of Xerderma Pigmentosum

A
28
Q

XP-A

A

NER Mutation

29
Q

XP-B

A

NER Mutation

30
Q

XP - C

A

NER Mutation

31
Q

XP-D

A

NER Mutation

32
Q

XP-E

A

NER Mutation

33
Q

XP-F

A

NER Mutation

34
Q

XP - G

A

NER Mutation

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