Chapter 1 Background and History
WHAT IS MEDICAL GENETICS?
WHY IS A KNOWLEDGE OF MEDICAL GENETICS IMPORTANT FOR TODAY'S HEALTH-CARE PRACTITIONER?
A BRIEF HISTORY
TYPES OF GENETIC DISEASES
THE CLINICAL IMPACT OF GENETIC DISEASE
Chapter 2 Basic Cell Biology: Structure and Function of Genes and Chromosomes
DNA, RNA, AND PROTEINS: HEREDITY AT THE MOLECULAR LEVEL
THE STRUCTURE OF GENES AND THE GENOME
THE CELL CYCLE
Chapter 3 Genetic Variation: Its Origin and Detection
MUTATION: THE SOURCE OF GENETIC VARIATION
DETECTION AND MEASUREMENT OF GENETIC VARIATION
GENETIC VARIATION IN POPULATIONS
Chapter 4 Single Gene Disorders
BASIC CONCEPTS OF FORMAL GENETICS
AUTOSOMAL DOMINANT INHERITANCE
AUTOSOMAL RECESSIVE INHERITANCE
FACTORS THAT AFFECT EXPRESSION OF DISEASE-CAUSING GENES
CONSANGUINITY IN HUMAN POPULATIONS
X INACTIVATION
SEXZLINKED INHERITANCE
SEX-LIMITED AND SEX-INFLUENCED TRAITS
MITOCHONDRIAL INHERITANCE
GENOMIC IMPRINTING
Chapter 5 Multifactorial Inheritance and Common Diseases
PRINCIPLES OF MULTIFACTORIAL INHERITANCE
NATURE AND NURTURE: DISENTANGLING THE EFFECTS OF GENES AND ENVIRONMENT
THE GENETICS OF COMMON DISEASES
SOME GENERAL PRINCIPLES AND CONCLUSIONS
Chapter 6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease
CYTOGENETIC TECHNOLOGY
ABNORMALITIES OF CHROMOSOME NUMBER
ABNORMALITIES OF CHROMOSOME STRUCTURE
CHROMOSOME ABNORMALITIES AND PREGNANCY LOSS
CHROMOSOME ABNORMALITIES AND CLINICAL PHENOTYPES
Chapter 7 Biochemical Genetics
VARIANTS OF METABOLISM
DEFECTS OF METABOLIC PROCESSES
Chapter 8 Cancer Genetics
CAUSES OF CANCER
CANCER GENES
MAJOR CLASSES OF CANCER GENES
IDENTIFICATION OF INHERITED CANCER-CAUSING GENES
IS GENETIC INHERITANCE IMPORTANT IN COMMON CANCERS?
CANCER CYTOGENETICS
CHROMOSOME INSTABILITY SYNDROMES
Chapter 9 Immunogenetics
THE IMMUNE RESPONSE: BASIC CONCEPTS
IMMUNE RESPONSE PROTEINS: GENETIC BASIS OF STRUCTURE AND DIVERSITY
THE MAJOR HISTOCOMPATIBILITY COMPLEX
IMMUNODEFICIENCY DISEASES
Chapter 10 Genetic Testing and Gene Therapy
POPULATION SCREENING FOR GENETIC DISEASE
MOLECULAR TOOLS FOR SCREENING AND DIAGNOSIS
PRENATAL DIAGNOSIS OF GENETIC DISORDERS AND CONGENITAL DEFECTS
FETAL TREATMENT
GENE THERAPY
Chapter 11 Genetics and Personalized Medicine
A TECHNOLOGY-DRIVEN TRANSFORMATION
THE IMPACT OF GENOMICS
THE FUTURE OF PERSONALIZED MEDICINE
Chapter 12 Clinical Genetics and Genetic Counseling
THE PRINCIPLES AND PRACTICE OF CLINICAL GENETICS
DYSMORPHOLOGY AND CLINICAL TERATOLOGY
BIOETHICS AND MEDICAL GENETICS
INDEX
