Mutations - Mechanisms & Effects

Genomic Variation

• Description factors:
• Single nucleotide polymorphisms - Non-harmful(mostly)
• Deletion/Duplication
• Microsatellites - tandem repeats of short sequences(Eg. CAG)
• Mini-satellites - tandem repeats of longer (10-60bp) sequences
• Number/Structure of chromosomes

Effects of Variation: Natural phenotypic features, Response to medication, Likelihood of disease, Genetic conditions

Mutation

Definition: Alteration or change in genetic material altering function/phenotype

Clinically used for those with harmful effects. Result of DNA replication/repair issues or mutagenic agents.

• Types:

Examination

• Base Level - Sequencing, Microarray Analysis CGH

• Large Blocks - Microarray Analysis, FISH: Fluorescence in situ Hybridisation

• Chromosomal - Microscopy (Karyotype)

• Sequencing: PCR to Amplify DNA, Use template to generate fragments, Separate by size (Electrophoresis), Base ends identified, Reconstruct DNA.

  Tells Position AND Type of mutation