explain the relationship between genes, proteins and phenotype with respect to the: • TYR gene, tyrosinase and albinism • HBB gene, haemoglobin and sickle cell anaemia • F8 gene, factor VIII and haemophilia • HTT gene, huntingtin and Huntington’s disease

describe the principles of cell signalling using the example of the control of blood glucose concentration by glucagon, limited to: • binding of hormone to cell surface receptor causing conformational change • activation of G-protein leading to stimulation of adenylyl cyclase • formation of the second messenger, cyclic AMP (cAMP) • activation of protein kinase A by cAMP leading to initiation of an enzyme cascade • amplification of the signal through the enzyme cascade as a result of activation of more and more enzymes by phosphorylation • cellular response in which the final enzyme in the pathway is activated, catalysing the breakdown of glycogen