Molecular Genetics & Biotechnology - Lecture Seventeen Flashcards
How do genetic differences lead to disease?
Translation: Initiation
Small ribosome subunit binds to mRNA and large ribosomal subunit completes the initiation complex
Translation: Elongation
The codon is recognised and a peptide bond is formed. Once the peptide bond is formed, translocation occurs
Translation: Termination
Ribosome reaches a stop codon on mRNA and a release factor promotes hydrolysis. Ribosomal subunits and other components then dissociate
Types of mutations
Substitution, deletion and insertion
Substitution
Change of one letter
Deletion
Loss of one letter
Insertion
Gain of one letter
Glucokinase
Key enzyme in glucose sensing as it determines how much glucose is broken down and therefore how much insulin is produced
Mutation in one glucokinase gene
Results in persistent mild hyperglycaemia, a type of diabetes called MODY2
Genetic testing
Polymerase chain reaction (PCR)
PCR steps
Heat DNA to 95˚C to separate DNA strands
Cool to -60˚ to anneal (base pair) a DNA primer
Heat DNA to 72˚ to allow Taq DNA polymerase to copy the DNA