AS Unit 1 Topic 2: Genes and health

Students will be assessed on their ability to:
(15) Explain how errors in DNA replication can give rise to mutations and explain how cystic fibrosis results from one of a number of possible gene mutations;
(16) Explain the terms gene, allele, genotype, phenotype, recessive, dominant, homozygote and heterozygote, and explain monohybrid inheritance, including the interpretation of genetic pedigree diagrams, in the context of traits such as cystic fibrosis, albinism, thalassaemia, garden pea height and seed morphology;
(17) Explain how the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems;
(19) Explain the uses of genetic screening: identification of carriers, preimplantation genetic diagnosis and prenatal testing (aminocentesis and chorionic villus sampling) and discuss the implications of prenatal genetic screening;
(20) Identify and discuss the social and ethical issues related to genetic screening from a range of ethical viewpoints