目录 Chapter 1 Background and History WHAT IS MEDICAL GENETICS? WHY IS A KNOWLEDGE OF MEDICAL GENETICS IMPORTANT FOR TODAYS 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
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