explain that a gene mutation is a result of substitution or deletion or insertion of nucleotides in DNA and outline how each of these types of mutation may affect the polypeptide produced
outline the advantages of genetic screening, using the examples of breast cancer (BRCA1 and BRCA2), Huntington’s disease and cystic fibrosis
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