An Introduction to Genetic Analysis Preface 1. Genetics and the Organism Introduction Genes as determinants of the inherent properties of species Genetic variation Methodologies used in genetics Genes, the environment, and the organism Summary Concept Map Problems Gene interaction and modified dihybrid ratios Gene interaction in petal color of foxgloves Gene interaction in coat color of mammals Penetrance and expressivity Chi-square test Summary Concept Map Chapter Integration Problem Solved Problems Problems 5. Basic Eukaryotic Chromosome 2 . Patterns of Inheritance Introduction Mendel's experiments Using genetic ratios Sex chromosomes and inheritance Human genetics Summary Concept Map Chapter Integration Problem Solved Problems Problems Mapping sex-linked 3. Chromosomal Basis of Heredity Introduction Historical development of the chromosome theory Mendelian genetics in eukaryotic life cycles Topography of the chromosome set Three-dimensional structure of chromosomes Sequence organization Summary Concept Map Chapter Integration Problem Solved Problems Problems 4. Gene Interaction Introduction From genes to phenotypes A diagnostic test for alleles Interactions between the alleles of one gene Introduction The discovery of linkage Recombination Linkage symbolism Linkage of genes on the X chromosome Linkage maps Three-point testcross Interference Calculating recombinant frequencies from selfed dihybrids Examples of linkage maps Chi-square test for linkage Mapping with molecular markers Linkage mapping by recombination in humans Nature of crossing-over Summary Concept Map Chapter Integration Problem Solved Problems Problems 6. Specialized Eukaryotic Chromosome Mapping Techniques Introduction Accurate calculation of large map distances Analysis of single meioses Mapping genes by mitotic segregation and recombination Mapping by in situ hybridization 1 An Introduction to Genetic Analysis Mapping human genes by human–rodent somatic cell hybrids Summary Concept Map Chapter Integration Problem Solved Problems Problems using 7. Gene Transfer in Bacteria and Their Summary Concept Map Chapter Integration Problem Solved Problems Problems 10 . Molecular Biology of Gene Function Introduction Working with microorganisms Bacterial conjugation Bacterial transformation Bacteriophage genetics Transduction Chromosome mapping Bacterial gene transfer in review Summary Concept Map Chapter Integration Problem Solved Problems Problems Introduction Properties of RNA Transcription Transcription and RNA polymerase Eukaryotic RNA Translation Genetic code Protein synthesis Universality of genetic information transfer Functional division of labor in the gene set Summary Concept Map Chapter Integration Problem Solved Problems Problems 8. The Structure and Replication of 11. Regulation of Gene Transcription Viruses DNA Introduction DNA: The genetic material Structure of DNA Replication of DNA Mechanism of DNA replication Summary Concept Map Chapter Integration Problem Solved Problems Problems 9. Genetics of DNA Function Introduction How genes work Gene-protein relations Genetic fine structure Mutational sites Complementation Introduction Basic control circuits Discovery of the lac system: negative control Catabolite repression of the lac operon: positive control Positive and negative control Dual positive and negative control: the arabinose operon Metabolic pathways Additional examples of control: attenuation Lambda phage: a complex of operons Transcription: an overview of gene regulation in eukaryotes Regulation of transcription factors Epigenetic inheritance Summary Concept Map Chapter Integration Problem Solved Problems 2 An Introduction to Genetic Analysis Problems 12. Recombinant DNA Technology Introduction Making recombinant DNA Cloning a specific gene Using cloned DNA Summary Concept Map Chapter Integration Problem Solved Problem Problems 13. Applications of Recombinant Somatic versus germinal mutation Mutant types Occurrence of mutations Selective systems Mutation induction Mutation and cancer Mutagens in genetic dissection Mutation breeding Summary Concept Map Chapter Integration Problem Solved Problems Problems 16. Mechanisms of Gene Mutation DNA Technology Introduction In vitro mutagenesis RFLP mapping Reverse genetics Expressing eukaryotic genes in bacteria Recombinant DNA technology in eukaryotes Gene therapy Using recombinant DNA to detect disease alleles directly Summary Concept Map Chapter Integration Problem Solved Problems Problems Introduction Molecular basis of gene mutations Spontaneous mutations Induced mutations Reversion analysis Relation between mutagens and carcinogens Biological repair mechanisms Repair defects and human diseases Summary Concept Map Chapter Integration Problem Solved Problem Problems 17. Chromosome Mutation I: Changes 14. Genomics in Chromosome Structure Introduction Genomics: an overview Genome projects: practical considerations Structural genomics Functional genomics Summary Concept Map Chapter Integration Problem Solved Problems Problems Introduction Origin of changes in chromosome structure Deletions Duplications Inversions Translocations Diagnosis of rearrangements by tetrad analysis Summary Concept Map Chapter Integration Problem Solved Problems Problems 15. Gene Mutation Introduction How DNA changes affect phenotype 3 An Introduction to Genetic Analysis 18. Chromosome Mutation II: 21. Extranuclear Genes Introduction Aberrant euploidy Aneuploidy Mechanisms of gene imbalance Chromosome mechanics in plant breeding Summary Concept Map Chapter Integration Problem Solved Problems Problems Introduction Origin of extranuclear genes Structure of organelle chromosomes Organelle mutations Inheritance of organelle genes and mutations Recombination of extranuclear DNA Cytoplasmic male sterility Mitochondria and aging Summary Chapter Integration Problem Solved Problems Problems 19. Mechanisms of Recombination 22. Cancer as a Genetic Disease Introduction Breakage and reunion of DNA molecules Chiasmata: the crossover points Genetic results leading to recombination models Holliday model Enzymatic mechanism of recombination Summary Concept Map Chapter Integration Problem Solved Problems Problems Introduction Cancer and the control of cell number: an overview Cell proliferation machinery Machinery for programmed cell death Controlling the cell-proliferation and death machinery Cancer: the genetics of aberrant cell control Cancer research in the genomic analysis era Summary Concept Map Chapter Integration Problem Solved Problems Problems Changes in Chromosome Number 20. Transposable Genetic Elements Introduction Controlling elements in maize Bacterial insertion sequences Prokaryotic transposons Mechanism of transposition in prokaryotes Review of transposable elements in prokaryotes Molecular nature of transposable elements ineukaryotes Review of transposable elements in eukaryotes Summary Concept Map Chapter Integration Problem Solved Problem Problems 23. Developmental Genetics Introduction Central themes of developmental genetics Gene regulation at levels other than transcription initiation: examples Binary fate decisions: pathways of sex determination Drosophila sex determination: every cell for itself Sex determination in mammals: coordinated control by the endocrine system Binary fate decisions: the germ line versus the soma Forming complex pattern: establishing positional information 4 An Introduction to Genetic Analysis Forming complex pattern: utilizing positional information to establish cell fates Additional aspects of pattern formation The many parallels in vertebrate and insect pattern formation Do the lessons of animal development apply to plants? Summary Concept Map Chapter Integration Problem Solved Problems Problems 24. Population Genetics Introduction Variation and its modulation Effect of sexual reproduction on variation Sources of variation Selection Balanced polymorphism Artificial selection Random events Summary Concept Map Chapter Integration Problem Solved Problems Problems 26. Evolutionary Genetics Introduction A synthesis of forces: variation and divergence of populations Multiple adaptive peaks Heritability of variation Observed variation within and between populations Process of speciation Origin of new genes Rate of molecular evolution Summary Concept Map Chapter Integration Problem Solved Problems Problems Genetic nomenclature Genetic nomenclature 25. Quantitative Genetics Introduction Some basic statistical notions Genotypes and phenotypic distribution Norm of reaction and phenotypic distribution Determining norms of reaction Heritability of a trait Quantifying heritability Locating the genes More on analyzing variance Summary Concept Map Statistical Appendix Chapter Integration Problem Solved Problems Problems 5