Table of Contents

Front Cover; Preface; Foreword; Personal Memories of David Rimoin; Basic Principles; Chapter 1.
History of Medical Genetics; 1.1 PREFACE (PETER HARPER); 1.2 INTRODUCTION; 1.3 FOUNDATIONS OF MEDICAL GENETICS BEFORE 1956; 1.4 GROWTH AND DEVELOPMENT OF MEDICAL GENETICS: 1956 TO THE PRESENT; 1.5 THE FUTURE; 1.6 ADDENDUM (PSH); 1.7 A TIMELINE FOR MEDICAL GENETICS; REFERENCES; FURTHER READING; Chapter 2.
Medicine in a Genetic Context; 2.1 INTRODUCTION; 2.2 THE PRINCIPLES OF DISEASE; 2.3 DEFINING DISEASE; 2.4 THE HOW QUESTIONS; 2.6 THE WHY QUESTIONS; 2.7 PREVENTION AND TREATMENT. 2.8 CONCLUSIONREFERENCES; Chapter 3.
Nature and Frequency of Genetic Disease; 3.1 INTRODUCTION; 3.2 FREQUENCY OF GENETIC DISEASE; 3.3 MORBIDITY AND MORTALITY DUE TO GENETIC DISEASE; REFERENCES; Chapter 4.
Genomics and Proteomics; 4.1 GENES AND HUMAN DISEASE; 4.2 GENOMICS; 4.3 MAPPING THE HUMAN GENOME; 4.4 SEQUENCING THE HUMAN GENOME; 4.5 CURRENT APPORACHES TO SEQUENCE PARTS OR THE WHOLE HUMAN GENOME; 4.6 AN APPROACH FOR CLONING HUMAN DISEASE GENES; 4.7 SEQUENCE-BASED METHODS FOR DETECTING CHROMOSOMAL ABNORMALITIES; 4.8 PROTEOMICS; GLOSSARY; REFERENCES. 6.8 CANCER EPIGENETICS6.9 ENVIRONMENTAL INFLUENCES ON EPIGENETIC TRAITS; 6.10 ABNORMALITIES IN EPIGENETIC PROGRAMMING LINKED TO INFERTILITY AND ASSISTED REPRODUCTION; 6.11 IN UTERO EPIGENETIC PROGRAMMING OF ADULT TRAITS AND DISEASE; 6.12 GENETIC-EPIGENETIC INTERACTIONS; 6.13 THE FUTURE: EPIGENOMICS; REFERENCES; Chapter 7.
Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences; 7.1 INTRODUCTION; 7.2 MOLECULAR MECHANISMS OF MUTATION CAUSING HUMAN INHERITED DISEASE; 7.3 DISEASE-CAUSING MUTATIONS; 7.4 CONSEQUENCES OF MUTATIONS. 7.5 GENERAL PRINCIPLES OF GENOTYPE-PHENOTYPE CORRELATIONS7.6 WHY STUDY MUTATION?; ACKNOWLEDGMENTS; REFERENCES; FURTHER READING; Chapter 8.
Genes in Families; 8.1 INTRODUCTION; 8.2 PEDIGREE CONSTRUCTION; 8.3 UNIFACTORIAL INHERITANCE/SINGLE-GENE DISORDERS; 8.4 DOMINANCE AND RECESSIVENESS; 8.5 AUTOSOMAL-DOMINANT INHERITANCE; 8.6 AUTOSOMAL RECESSIVE INHERITANCE; 8.7 SEX-LINKED INHERITANCE; 8.8 X-LINKED RECESSIVE INHERITANCE; 8.9 X-LINKED DOMINANT INHERITANCE; 8.10 Y-LINKED (HOLANDRIC) INHERITANCE; 8.11 PARTIAL SEX LINKAGE; CROSS REFERENCES; REFERENCES. Chapter 5.
Genome and Gene Structure5.1 INTRODUCTION; 5.2 DOUBLE HELIX STRUCTURE, DNA REPLICATION, TRANSCRIPTION, AND MEIOTIC RECOMBINATION; 5.3 ORGANIZATION OF GENOMIC DNA; 5.4 GENE STRUCTURE AND THE MOLECULAR PATHWAY OF GENE EXPRESSION; REFERENCES; Chapter 6.
Epigenetics; 6.1 INTRODUCTION; 6.2 EPIGENETIC MECHANISMS: CHROMATIN, DNA METHYLATION AND LONG NONCODING RNAS; 6.3 EPIGENETIC REPROGRAMMING; 6.4 EPIGENETIC REGULATION OF X INACTIVATION; 6.5 GENOMIC IMPRINTING; 6.6 GENETIC DISORDERS DUE TO GENES AFFECTING CHROMATIN STRUCTURE; 6.7 METHODS FOR STUDYING EPIGENETIC MARKS. Chapter 9.
Analysis of Genetic Linkage. For decades, Emery & Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this sixth edition bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders.