TAILIEUCHUNG - Lecture Genetics: From genes to genomes - Chapter 7: Anatomy and function of a gene: dissection through mutation

Chapter 7 - Anatomy and function of a gene: dissection through mutation. This chapter includes contents: Mutations: primary tools of genetic analysis, what mutations tell us about gene structure, what mutations tell us about gene function, a comprehensive example: mutations that affect vision. | Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display PowerPoint to accompany Genetics: From Genes to Genomes Fourth Edition Leland H. Hartwell, Leroy Hood, Michael L. Goldberg, Ann E. Reynolds, and Lee M. Silver Prepared by Mary A. Bedell University of Georgia CHAPTER What Genes Are and What They Do CHAPTER PART II CHAPTER OUTLINE Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th edition, Chapter 7 Anatomy and Function of a Gene: Dissection Through Mutation Mutations: Primary Tools of Genetic Analysis What Mutations Tell Us About Gene Structure What Mutations Tell Us About Gene Function A Comprehensive Example: Mutations That Affect Vision Mutations: Primary tools of genetic analysis Mutations are heritable changes in DNA base sequences Forward mutation – changes wild-type allele to a different allele . A+ a or b+ B Reverse mutation (reversion) – changes a mutant allele back to wild type . a A+ or B b+ Forward mutation rate is usually greater than reversion rate Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 7 Classification of mutations by effect on DNA molecule Substitution – replacement of a base by another base Transition – purine replaced by another purine, or pyrimidine replaced by another pyrimidine Transversion – purine replaced by a pyrimidine, or pyrimidine replaced by a purine Deletion – block of 1 or more bp lost from DNA Insertion – block of 1 or more bp added to DNA Inversion – 180° rotation of a segment of DNA Reciprocal translocation – parts of two nonhomologous chromosomes change places Copyright © The McGraw-Hill Companies, Inc. Permission required to reproduce or display Hartwell et al., 4th ed., Chapter 7 Mutations classified by their effect on DNA Copyright © The McGraw-Hill Companies, Inc. Permission required to .

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