1. Gene – Expression – Mutation - polymorphism

2. How are genes expressed ?
DNA
Transcription
Pre-mRNA
Cap
Poly(A)
Splicing
Lariat intron
mRNA
Cap
Poly(A)
Degradation
Nucleus
mRNA transport
Translation
Cytoplasm
Ribosome
PROTEIN

3. MUTATION
Mutation is a change in the nucleotide sequence of genome, caused by a replication error or by a mutagen.
Mutagen  a chemical or physical agent that can cause a mutation in a DNA molecule

4. The cause of mutations
Spontaneous error in replication that evade proofreading function of the DNA polymerases that synthesize new polynucleotides
 mismatches

5. 1. Error in replication

6. 2. Effect of mutagen

7. Mutation :
In-frame mutation  maintain reading frame (codon is intact)
Out of frame/frameshift mutation  disrupt reading frame
Point mutation
Deletion
Insertion
Duplication

8. Point mutation  common
(single site mutation) : replace one nucleotide with another
Divided into two catagories:
Transitions : are purine-to purine or pyrimidine-to-pyrimidine changes : AG, GA, CT, or TC.
Transversions : are purine-to-pyrimidine or pyrimidine-to-purine changes: AC, AT, GC, GT, CA, CG, TA or TG

9. Point mutation:
Single nucleotide change 
- deletion
- insertion
- missense
- nonsense (create a stop codon)
- silent (no amino acid alteration)

10. Point mutation :
Missense
Missense
Silent

11. Polymorphism:
 Different nucleotide sequence that occurs in the population as a whole
Deletion
Insertion
Duplication
Missense
Silent
Patient (+)
Control (-)
Control (+)
Mutation
Polymorphism
Most polymorphism occurs in intronic sequence

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