Review 5 Flashcards
Sources of Mutations
- Inherited
- Spontaneous:
a. DNA replication errors
b. Environmental factors
c. Completely random
Mutations Effects on DNA
- Point mutation
2. Frameshift mutation (Insertion/Deletion)
Mutation Effects on Protein
- Missense Mutation (leads to change in amino acid)
2. Nonsense mutation leads to stop codon prematurely
Missense Mutation
- Silent mutation - Does not affect final amino acid
- Conservative mutation - New amino acid is the same type as the previous one e.g. acid for acid
- Non-conservative mutation - New amino acid of different type e.g. Serine for Phe
Causes of Point mutation
Point mutations are caused by BASE SUBSTITUTION
1. Transition i.e. A->G or C->T (Change one purine for another purine or pyrimidine for another pyrimidine
- Transversion i.e. A or G for C or T (Change purine for pyrimidine or vice-versa)
- Mispairing mismatching
Causes of Frame-shift Mutation
- Insertion
2. Deletion
Large Scale Mutations
- Crossing over of non-homologous chromosomes
- Inversion:
a. Do not always affect individual nucleotides
b. Affects mostly regulation of expression and what it codes for
c. Position depends on regulation
Mutagens and Classes
Chemical or Physical substance or event that can cause genetic mutations
a. Endogenous (internal) e.g : ROS (Cause breaks, or base modification)
b. Exogenous (External) e.g Intercalators and base analogues (e.g. Uracil -> 5-Bromouracil)
5-Bromouracil
- Ketoform - Binds adenine 9good)
2. Enol form - Binds Guanine (:-(
Carcinogen
- Can be mutagen or not.
- Increase rate of cancer
3, Can cause mutation or increase a protein rate
e.g: Tobacco, asbestos
Complete Dominance
AB - A completely dominant over B
Incomplete Dominance
A MIXTURE of the alleles in the GENOTYPE is seen in the Phenotype
Co-Dominance
Both ALLELES in the genotype are seen in th ephenotype
Hardy-Weinberg Principle
- No selection
- No mutation
- Large Population
- Net migration = 0
- Random Mating
Hardy-Weinberg Equation
p + q = 1
p^2 + 2pq + q^2 = 1
Hersey-Chase
Sulphur and Phosphorous to determine DNA
Genetic Recombination 1
- Joining of homologous pair and form tetrad called synapsis
- Product formed is the synaptomenal complex
- Joined at the Chiasma and the result is crossing-over and recombination of genetic recombination
Genetic Recombination 2
Know the following:
Single Crossing over
2 strand single crossver
3 strand double crossover, etc
Pseudoautosomal region
These are regions on the X and Y where crossing over occurs but beyond those points, crossing over does not happen
Gene Mapping
Higher the distances, the greater the recombination frequency