RVHS 11. DNA Mutations 9477

River Valley High School 1 2025 JC1 H2 Biology Lecture Topic 11: DNA Mutations River Valley High School 2025 JC1 H2 Biology Lecture Topic 11: DNA Mutations Name: ( ) Class: 25J____ Date: References Textbook Author Biology (9th Edition) Campbell and Reece Molecular Biology of The Cell (5th Edition) Alberts Johnson Lewis Raff Roberts Walter Genomes (2nd Edition) Brown Longman A-Level Course in Biology: Core Syllabus Volume 1 Hoh Biology: An Australian Focus (3rd Edition) Knox, Ladiges, Evans and Saint H2 Biology Syllabus 9477 (2025) Candidates should be able to use the knowledge gained in the following section(s) in new situations or to solve related problems. Related Topics Content Genetics and Inheritance Gene Expression Biological Evolution Natural Selection, Evolution and Biodiversity Learning Outcomes 2D. DNA Mutations a. Explain what is meant by the terms gene mutation and chromosome aberration. For gene mutation, knowledge of how substitution, addition and deletion could change the amino acid sequence (including frameshift) is required. For chromosomal aberration, knowledge of numerical ( including aneuploidy, as in the case of trisomy 21, i.e. Down syndrome) and structural aberration (including translocation, duplication, inversion, deletion) is required. b. Explain how gene mutations can result in diseases (including sickle cell anaemia). c. Discuss the bioethics of genetic maternal screening for mutations, including trisomy –21. Lecture Outline I. Introduction – DNA Mutations II. Point Mutations A. Types of Point Mutations B. Effects of Point Mutations C. Sickle Cell Anaemia III. Chromosomal Aberration A. Structural Alteration to Chromosomes B. Changes in Chromosome Number C. Diseases IV. Bioethical Issues of Genetic Maternal Screening A. Genetic Screening and Genetic Testing B. Maternal Genetic Screening C. Bioethical issues V. Mutagenesis

River Valley High School 2 2025 JC1 H2 Biology Lecture Topic 11: DNA Mutations Websites URL Description https://learn.concord.org/resources/779/mutations Interactive animation to explore how changing the DNA sequence can change the amino acid sequence of a protein. http://www.dnalc.org/resources/3d/17-sickle- cell.html A detailed 3D animation of how a single gene mutation can affect haemoglobin and result in sickle cell disease. https://learn.genetics.utah.edu/content/genetics/he moglobin Informative website detailing the sickle cell disease. https://www.nature.com/articles/s41431-021- 00970-2 Article on ethical landscapes of non -invasive prenatal testing

River Valley High School 3 2025 JC1 H2 Biology Lecture Topic 11: DNA Mutations I. Introduction – DNA Mutations • Genetic information is stored in linear sequences of base -pairs in DNA. Transcription and translation convert this genetic information into polypeptides, which become functional p