genetic disorders

• haemophilia type of mutation

  base substitution in F8 gene
• haemophilia protein impacted


  creates a stop codon instead of arginine
• symptoms of haemophilia 


  excessive bleeding from cuts and injuries
• sickle cell anaemia mutation type

  single base substitution on HBB gene
• cystic fibrosis mutation type

  3 base deletion in CFTR gene
• huntinton disease mutation type

  more than 37 CAG repeats on huntinton gene
• Cystic fibrosis protein impacted

  missing phenylalanine amino acid from protein
• sickle cell anaemia protein impacted

  valine amino acid instead of glutamic acid
• huntinton's disease protein impacted

  too many glutamine amino acids
• symptoms of sickle cell anaemia

  tissue damage, blocked blood flow
• symptoms of cystic fibrosis

  difficulties breathing and digestion
• huntinton's disease symptoms


  affects movement and thinking
• huntinton disease condition type

  autosomal dominant
• Cystic fibrosis condition type

  autosomal recessive
• sickle cell anaemia condition type

  autosomal recessive
• haemophilia condition type


  X linked recessive
• PCR 1st step


  denaturation
• PCR 2nd step


  Annealing
• PCR 3rd step


  Extension
• Denaturation


  DNA heated to 95 degrees to break H-bonds
• Annealing


  temperature reduced to let primers anneal to template strands
• Extension


  temperature increased, polymerase copies template strand