Gene – Expression – Mutation - polymorphism

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Gene – Expression – Mutation - polymorphism

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

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

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

1. Error in replication

2. Effect of mutagen

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

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

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

Point mutation : Missense Missense Silent

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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