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Unit 1 Topic 2: Genes and Health Revision questions Define: 1. What is meant by osmosis in terms of the movement of free water molecules through a partially permeable membrane 2. The terms gene, allele, genotype, phenotype, recessive, dominant, homozygous, and heterozygous 3. The term mutation Identify: 1. The differences between fibrous and globular proteins 2. The difference between somatic and germ line therapy. Describe: 1. 2. 3. 4. 5. The process of facilitated diffusion The process of active transport The process of endocytosis The process of exocytosis The properties of gas exchange surfaces in living organisms (large surface area to volume ratio, thickness of surface, difference in concentration) 6. The basic structure of an amino acid 7. How a polypeptides is formed (as amino acid monomers linked by peptide bonds in condensation reactions) 8. The basic structure of mononucleotides (as a deoxyribose or ribose linked to a phosphate and a base, ie thymine, uracil, cytosine, adenine or guanine) and the structures of DNA and RNA (as polynucleotides composed of mononucleotides linked through condensation reactions) 9. How complimentary base pairing and the hydrogen bonding between two complimentary strands are involved in the formation of the DNA double helix. 10.The process of DNA replication (including the role of DNA polymerase) 11.Describe, and explain how Meselson and Stahl’s classic experiment provided new data that supported the accepted theory of replication of DNA and refuted competing theories. 12.The process of transcription including the role of messenger RNA, and the template (antisense) DNA strand 13.The process of translation, including the role of transfer RNA 14.the principles of gene therapy Explain: 1. How the structure of the mammalian lung is adapted for rapid gaseous exchange. 2. How a proteins secondary structure is maintained 3. How a proteins tertiary structure is maintained 4. The mechanism of action and specificity of enzymes in terms of their three-dimensional structure and explain that enzymes are biological catalysts that reduce activation energy, catalysing a wide range of intracellular and extracellular reactions. 5. How cystic fibrosis results from one of a number of possible mutations. 6. How monohybrid inheritance occurs, including the interpretation of genetic pedigree diagrams, in the context of traits such as cystic fibrosis, albinism, thalassaemia, garden pea height and seed morphology. 7. How the expression of a gene mutation in people with cystic fibrosis impairs the functioning of the gaseous exchange, digestive and reproductive systems. 8. Explain the uses of genetic screening: identification of carriers, preimplantation genetic diagnosis and prenatal testing (amniocentesis and chorionic villus sampling) Discuss: 1. The implications of prenatal genetic screening. 2. Discuss the social and ethical issues related to genetic screening from a range of ethical viewpoints.