types of mutation

• germ line mutation?


  mutation in replicating DNA of gamete formation and is passed onto future generations

  • could cause an inherited disorder (CF)
• somatic mutation?


  occurs after conception so causes a problem for individual

  • mutation essentially ends with individual and isn't passed onto future generations
• CFTR protein?

  • mutation gives rise to a change in base sequence of DNA
  • may change sequence of codons on mRNA
  • different aa coded for, so change in sequence of aa in pp chain
  • different R groups can cause different bonds in folding secondary/tertiary structure
  • 3d shape of CFTR protein altered/not produced
  • may not carry out function of transporting Cl ions
  • Cl ions wouldn't move out cells into mucus, water doesn't move by osmosis to mucus, mucus is thicker than it should be.