Basic Concepts In Medical Genetics

CHAPTER 1INTRODUCTION CHAPTER 2GENES, CHROMOSOMES, AND MEIOSIS Definition of a Gene The Central Dogma DNA RNA Proteins The Basic Structure of a Gene Definition of a Chromosome Chromosome versus Chromatid Meiosis CHAPTER 3MENDELIAN INHERITANCE Probability Review Pedigree Symbols Homozygosity and Heterozygosity Mendelian Patterns of Inheritance Autosomal Dominant Autosomal Recessive Sex-Linked Recessive Unusual Forms of Inheritance CHAPTER 4MUTATION New Mutation Fitness Haldane's Rule The Origins of Mutation Allelic Heterogeneity Allelic Disorders Locus Heterogeneity Phenocopy Heterozygote Advantage CHAPTER 5GENETIC TESTING Direct Testing Indirect Testing and the Concept of Linkage Analysis RFLPs Microsatellite Markers SNPs LOD Score Analysis Haplotype Analysis CHAPTER 6DYNAMIC MUTATION Fragile X Syndrome Fragile Sites The Molecular Basis of Fragile X Clinically Observed Patterns of Inheritance Huntington's Disease Myotonic Dystrophy Other Diseases Caused by Unstable Repeats CHAPTER 7CYTOGENETICS Cytogenetic Organization of the Human Genome Chromosome Analysis and Classification Molecular Cytogenetics Chromosomal Abnormalities Numerical Abnormalities Structural Abnormalities Cancer Cytogenetics Indications for a Chromosome Analysis Prenatal Diagnosis Techniques Triple Screen Amniocentesis Chronic Villus Sampling (CVS) Percutaneous Umbilical Blood Sampling (PUBS) CHAPTER 8COMPLEX INHERITANCE The Threshold Model The Effects of Genes The Effect of Environment The Effect of Genes and Environment Sex Dependence of the Threshold Other Characteristics of Complex Inheritance CHAPTER 9CANCER GENETICS Oncogenes History Retrovirus Structure Examples of Proto-Oncogenes Tumor Suppresssor Genes The Prototype: RB P53 and Li-Fraumeni Syndrome Neurofibromatosis Von Hippel-Lindau Syndrome Familial Adenomatous Polyposis Familial Breast or Ovarian Cancer DNA Repair/Cell Cycle Genes Autosomal Recessive Syndromes of Deficiency of DNA Repair Hereditary Nonpolyposis Colorectal Cancer CHAPTER 10GENE THERAPY Somatic versus Germline Gene Therapy Ex Vivo versus In Vivo Gene Therapy Gene Therapy Strategies Gene Addition Gene Blocking Therapies and Gene Repair Gene Delivery Vehicles Nonviral Methods Viral Methods Examples of Clinical Applications of Gene Therapy The Future of Gene Therapy INDEX