Mutation and Repair Flashcards Preview

Fundamentals of Molecular Medicine > Mutation and Repair > Flashcards

Flashcards in Mutation and Repair Deck (34):
1

 

 

 

The Genetic Code

2

 

 

 

Explain the concept of "Reading Frame" in protein translation

3

 

 

 

What are the 3 Point Mutations?

 

 

Silent 

Missense

Nonsense

 

4

 

 

 

Point Mutation

 

 

 

A single Base Change

 

5

 

 

 

Silent Mutation 

6

 

 

 

Missense

7

 

 

 

Nonsense Mutation

8

 

 

 

Insertion/Deletion

9

 

 

 

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

10

 

 

 

Sickle Cell Disease

What type of mutation is it?

11

 

 

 

Explain the mutation of Sickle Cell Disease

12

 

 

 

What type of mutation is Beta Thalessemia?

What causes the mutation?

13

 

 

 

Explain Thalessemia Syndromes

14

 

 

 

Frameshift Mutation

15

 

 

 

Why is living dangerous for your DNA?

16

 

 

 

Mismatch Repair

17

 

 

 

Defects in DNA Repair Genes

18

 

 

 

Lynch Syndrome

19

 

 

 

Spontaneous Base Hydrolysis Reactions

20

 

 

 

What happens when you smoke...

21

 

 

 

Effect of Solar Radiation

22

 

 

 

Explain How Sunscreen Works

23

 

 

 

Nucleotide Excision Repair

24

 

 

 

Why would we damage DNA on Purpose?

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

Decks in Fundamentals of Molecular Medicine Class (77):