Mutation and Repair Flashcards
(34 cards)
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
Xeroderma Pigmentosum
26
MSH 2,3,6 MLH1, PMS2
Phenotype and Process Effected
Colon Cancer
Lynch Syndrome
Mismatch Repair
27
Clinical Aspects of Xerderma Pigmentosum
28
XP-A
NER Mutation
29
XP-B
NER Mutation
30
XP - C
NER Mutation
31
XP-D
NER Mutation
32
XP-E
NER Mutation
33
XP-F
NER Mutation
34
XP - G
NER Mutation
