Topic 3: Genetic Changes Flashcards
1
Q
Classifying Mutations
A
- Silent: No effect on protein
- Nonsense: Stop Codon
- Missense: Swapping
2
Q
DNA mutagens (cause mutations)
A
- Endogenous: things that are in there e.g reactive oxygen species: oxygen slowly kills us.
- Exogenous: from outside sources e.g radiation, heating
3
Q
Frame-Shift Mutations
A
Insertion/Deletion of one or more bases almost always going to break protein
4
Q
Mutation Effects
A
- Gain of Functions (GOF): Doing something stronger; New function or expression. Dominant
- Loss of Functions (LOF): reduced function or expression. Recessive
5
Q
2 pathways in studying genetics
A
- Forward Genetics (Hypothesis-generating): Random –> Targeted. Grab a bunch of mutants and find the one phenotype. Identify what gene you broke and why that phenotype is different. 1000 random mutation and only 1 is broken so takes a while to find.
- Reverse Genetics (Hypothesis-based): Targeted –> Diverse.
Break the gene and see the phenotype.
6
Q
Chromosomal Alterations
A
- Deletion: Delete a segment
- Duplication: Double a segment
- Inversion: Reverse a segment within a chromosome
- Translocation: Move a segment from one chromosome to a nonhomologous chromosome
7
Q
Duplication
A
- Conservation: Both ancestral
- Nonfunctionalization: Ancestral stays same but another function breaks.
- Subfunctionalization: Half ancestral + Half broken
- Neofunctionalization: Ancestral + New Function
- Specialization: Half ancestral + half new function
8
Q
SNP
A
SNP are all mutation, not all mutation are SNP.
9
Q
1000 Genome Project
A
Get genome from variety population around the world. Prescribe to young white male population & women and see their side effects. Because of the side effects can be used when prescribed medication
10
Q
SNP Example
A
TAS2R38: Bitter Taste Receptor
Different allels of the gene confer different function
* Protein Binding: SNP where taste is bad
* No binding: SNP has no taste
