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Contents Color Insert Preface Chapter 1 Genetics in the Practice of Medicine From Genetics to Genomics Molecular Genetics Human Genome Project Consequences of the Human Genome Project Genetics and Preventive Medicine Ethical Issues in Medical Genetics Eugenics Other Issues Involving Genetic Discrimination USMLE-Style Questions Chapter 2 DNA Structure, Function, and Replication: A Review Basic Structure of DNA Tertiary Structure of DNA Mitochondrial DNA Cell Cycle Interphase Mitosis Meiosis USMLE-Style Questions Chapter 3 Cytogenetics: Microscopic Genetics Chromosome Morphology, Nomenclature, and Karyotyping Techniques in Molecular Cytogenetics Numerical Chromosomal Abnormalities Polyploidy Aneuploidy Autosomal Trisomies Aneuploidy of the Sex Chromosomes Structural Abnormalities Reciprocal Translocations Robertsonian Translocations Inversions Deletions and Duplications Mosaicism Somatic Mosaicism Confined Placental Mosaicism Prenatal Clinical Techniques in Cytogenetics Amniocentesis Chorionic Villus Sampling Cordocentesis USMLE-Style Questions Chapter 4 Molecular Genetics: Gene Structure, Organization, and Control Gene Structure From Gene to Product Transcription and Transcription Factors Processing mRNA Alternative Splicing Translation Posttranslational Modification and Localization Genome Organization Repeated Elements Single-Nucleotide Polymorphisms Satellites, Minisatellites, and Microsatellites Gene Families Mitochondrial Genome Epigenetics Methylation X Inactivation Mechanism Significance Parent-of-Origin Effects: Genetic Imprinting Uniparental Disomy Disorders Caused by Disruptions of Parent-of-Origin Effects Clinically Relevant Laboratory Techniques Polymerase Chain Reaction Sequencing Denaturing High-Performance Liquid Chromatography Microarray Analysis USMLE-Style Questions Chapter 5 Changes and Repair at the Molecular DNA Level Mutations Types of Mutations Causes of Mutations Germline Versus Somatic Location Phenotypic Expression of Mutations Loss-of-Function Mutations Gain-of-Function Mutations DNA Repair Mechanisms Base Excision Repair Nucleotide Excision Repair Mismatch Repair Recombination Repair USMLE-Style Questions Chapter 6 Mendelian Inheritance: Observation of Phenotypes Pedigree Construction Inheritance Patterns Autosomal Dominant Inheritance Autosomal Recessive Inheritance X-linked Recessive Inheritance X-linked Dominant Inheritance Y-linked Inheritance Genetic Counseling Risk Assessment Based on Pedigree Analysis Hardy-Weinberg Equilibrium Theory Application Prenatal Diagnosis of Mendelian Disorders USMLE-Style Questions Chapter 7 Unexpected Phenotypes in Mendelian Disorders: Molecular Explanations Variations in Dominant Phenotypes Penetrance Variable Expressivity De Novo Mutations Mosaicism Genetic Heterogeneity Phenocopy Parent-of-Origin Effect Variations in Recessive Phenotypes Frequently Occurring Alleles Founder Populations Gene Expression Level Consanguinity Variations in X-linked Phenotypes Frequently Occurring Alleles Male Lethality Mitochondrial Inheritance False Paternity USMLE-Style Questions Chapter 8 Cancer Genetics Genes and Cancer Multistep Evolution in Cancer Cancer Risk Assessment Counseling Oncogenes Amplification Chromosomal Translocations Hereditary Syndromes of Oncogenes Tumor Suppressor Genes Knudson Hypothesis Hereditary Syndromes of Tumor Suppressor Genes Retinoblastoma Familial Adenomatous Polyposis Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Breast/Ovarian Cancer Syndrome USMLE-Style Questions Chapter 9 Complex Diseases Threshold Model Modifier Genes Tools for Study of Complex Diseases Twins Studies Linkage Studies Association Studies Congenital Complex Diseases Hirschsprung Disease Neural Tube Defects Adult-Onset Complex Diseases Cardiovascular Disease Diabetes Mellitus Alzheimer Disease USMLE-Style Questions Chapter 10 Developmental Genetics Dysmorphology Embryological Development and Control Mechanisms Early Development Transcription Factors HOX Genes TBX Genes GATA Genes Induction and Morphogens Sex Differentiation and Intersex Conditions USMLE-Style Questions Chapter 11 Individualized Medicine Pharmacogenomics Cytochrome P450 Family and Diversity Gene Expression Microarrays Individualized Drug Therapies Disease Susceptibility USMLE-Style Questions Chapter 12 Gene Therapy Viral Vectors Retroviral Vectors Adenoviral Vectors Adeno-associated Viral Vectors Nonviral Vectors USMLE-Style Questions Appendix A Answers to USMLE-Style Questions Appendix B Glossary Appendix C Table of Genes Referenced
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