Table of Contents

CHAPTER 1: GENETICS IN THE PRACTICE OF MEDICINE From Genetics to Genomics Genetics and Preventive Medicine Ethical Issues in Medical Genetics USMLE-Style Questions CHAPTER 2: DNA STRUCTURE, FUNCTION, AND REPLICATION: A REVIEW Basic Structure of DNA Tertiary Structure of DNA Mitochondrial DNA Cell Cycle Meiosis USMLE-Style Questions CHAPTER 3: CYTOGENETICS: MICROSCOPIC GENETICS Chromosome Morphology, Nomenclature, and Karyotyping Techniques in Molecular Cytogenetics Numerical Chromosomal Abnormalities Structural Abnormalities Mosaicism Prenatal Clinical Techniques in Cytogenetics USMLE-Style Questions CHAPTER 4: MOLECULAR GENETICS: GENE STRUCTURE, ORGANIZATION, AND CONTROL Gene Structure From Gene to Product Genome Organization Epigenetics Clinically Relevant Laboratory Techniques USMLE-Style Questions CHAPTER 5: Changes and Repair at the Molecular DNA Level Mutations DNA Repair Mechanisms SMLE-Style Questions CHAPTER 6: MENDELIAN INHERITANCE: OBSERVATION OF PHENOTYPES Pedigree Construction Inheritance Patterns Genetic Counseling Risk Assessment Based on Pedigree Analysis Hardy-Weinberg Equilibrium Prenatal Diagnosis of Mendelian Disorders USMLE-Style Questions CHAPTER 7: UNEXPECTED PHENOTYPES IN MENDELIAN DISORDERS: MOLECULAR EXPLANATIONS Variations in Dominant Phenotypes Variations in Recessive Phenotypes Variations in X-linked Phenotypes Mitochondrial Inheritance False Paternity USMLE-Style Questions CHAPTER 8: CANCER GENETICS Genes and Cancer Multistep Evolution in Cancer Cancer Risk Assessment Counseling Oncogenes Tumor Suppressor Genes USMLE-Style Questions CHAPTER 9: COMPLEX DISEASES Threshold Model Modifier Genes Tools for Study of Complex Diseases Congenital Complex Diseases Adult-Onset Complex Diseases USMLE-Style Questions CHAPTER 10: DEVELOPMENTAL GENETICS Dysmorphology Embryologic Development and Control Mechanisms USMLE-Style Questions CHAPTER 11: INDIVIDUALIZED MEDICINE Pharmacogenomics Individualized Drug Therapies Disease Susceptibility USMLE-Style Questions CHAPTER 12: GENE THERAPY Viral Vectors Nonviral Vectors USMLE-Style Questions Appendix: Answers to USMLE-Style Questions Appendix: Glossary Appendix: Table of Genes Referenced