Mutation and Repair Flashcards
The Genetic Code
Explain the concept of “Reading Frame” in protein translation
What are the 3 Point Mutations?
Silent
Missense
Nonsense
Point Mutation
A single Base Change
Silent Mutation
Missense
Nonsense Mutation
Insertion/Deletion
Types of Mutations (IN RNA) upon transcription…
Sickle Cell Disease
What type of mutation is it?
Explain the mutation of Sickle Cell Disease
What type of mutation is Beta Thalessemia?
What causes the mutation?
Explain Thalessemia Syndromes
Frameshift Mutation
Why is living dangerous for your DNA?
Mismatch Repair
Defects in DNA Repair Genes
Lynch Syndrome
Spontaneous Base Hydrolysis Reactions
What happens when you smoke…
Effect of Solar Radiation
Explain How Sunscreen Works
Nucleotide Excision Repair
Why would we damage DNA on Purpose?
Xeroderma Pigmentosum
MSH 2,3,6 MLH1, PMS2
Phenotype and Process Effected
Colon Cancer
Lynch Syndrome
Mismatch Repair
Clinical Aspects of Xerderma Pigmentosum
XP-A
NER Mutation
XP-B
NER Mutation
XP - C
NER Mutation
XP-D
NER Mutation
XP-E
NER Mutation
XP-F
NER Mutation
XP - G
NER Mutation
