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An introduction for medical students, and graduate and undergraduate students in genetics. Explains basic molecular genetics, and covers chromosomal and single gene disorders, immunogenetics, cancer genetics, multifactorial disorders, and fetal therapy. Emphasizes the value of medical genetics as preventive medicine, and contains clinical commentaries on specific genetic diseases. Illustrated with b&w photos and two-color diagrams. An appendix includes bar codes to be scanned to access more illustrations from a laser disk, but the disk was not attached to this review copy. Annotation c. by Book News, Inc., Portland, Or.

Tabla de contenidos provista por Syndetics

• 1 Background and History(p. 1)
• What is Medical Genetics?(p. 1)
• Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?(p. 1)
• A Brief History(p. 1)
• Types of Genetic Diseases(p. 3)
• The Clinical Impact of Genetic Disease(p. 4)
• 2 Basic Cell Biology: Structure and Function of Genes and Chromosomes(p. 6)
• DNA, RNA, and Proteins: Heredity at the Molecular Level(p. 6)
• The Structure of Genes and the Genome(p. 17)
• The Cell Cycle(p. 22)
• 3 Genetic Variation: Its Origin and Detection(p. 29)
• Mutation: The Source of Genetic Variation(p. 29)
• Detection and Measurement of Genetic Variation(p. 41)
• 4 Autosomal Dominant and Recessive Inheritance(p. 57)
• Basic Concepts of Formal Genetics(p. 57)
• Autosomal Dominant Inheritance(p. 63)
• Autosomal Recessive Inheritance(p. 65)
• Factors That May Complicate Inheritance Patterns(p. 68)
• Consanguinity in Human Populations(p. 83)
• 5 Sex-Linked and Mitochondrial Inheritance(p. 88)
• X Inactivation(p. 88)
• Sex-Linked Inheritance(p. 90)
• Sex-Limited and Sex-Influenced Traits(p. 101)
• Mitochondrial Inheritance(p. 101)
• 6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease(p. 107)
• Cytogenetic Technology and Nomenclature(p. 107)
• Abnormalities of Chromosome Number(p. 111)
• Chromosome Abnormalities and Pregnancy Loss(p. 120)
• Abnormalities of Chromosome Structure(p. 122)
• Chromosome Abnormalities and Clinical Phenotypes(p. 130)
• Cancer Cytogenetics(p. 132)
• Chromosome Instability Syndromes(p. 133)
• 7 Biochemical Genetics: Disorders of Metabolism(p. 136)
• Variants of Metabolism(p. 136)
• Defects of Metabolic Processes(p. 139)
• Pharmacogenetics(p. 155)
• 8 Gene Mapping and Cloning(p. 160)
• Genetic Mapping(p. 161)
• Physical Mapping and Cloning(p. 174)
• 9 Immunogenetics(p. 193)
• The Immune Response: Basic Concepts(p. 193)
• Immune Response Proteins: Genetic Basis of Structure and Diversity(p. 198)
• The Major Histocompatibility Complex(p. 200)
• The ABO and Rh Blood Groups(p. 205)
• Immunodeficiency Diseases(p. 206)
• 10 Developmental Genetics(p. 209)
• Development: Basic Concepts(p. 209)
• Genetic Mediators of Development: The Molecular Toolbox(p. 210)
• Pattern Formation(p. 216)
• 11 Cancer Genetics(p. 228)
• Causes of Cancer(p. 229)
• Cancer Genes(p. 230)
• Major Classes of Cancer Genes(p. 232)
• Identification of Inherited Cancer Genes(p. 238)
• Molecular Basis of Cancer(p. 246)
• Is Genetic Inheritance Important in Common Cancers?(p. 246)
• 12 Multifactorial Inheritance and Common Diseases(p. 248)
• Principles of Multifactorial Inheritance(p. 248)
• Nature and Nurture: Disentangling the Effects of Genes and Environment(p. 255)
• The Genetics of Common Diseases(p. 258)
• 13 Genetic Testing and Gene Therapy(p. 278)
• Population Screening for Genetic Disease(p. 278)
• Molecular Tools for Screening and Diagnosis(p. 284)
• Prenatal Diagnosis of Genetic Disorders and Congenital Defects(p. 288)
• Fetal Treatment(p. 295)
• Gene Therapy(p. 296)
• 14 Clinical Genetics and Genetic Counseling(p. 305)
• The Principles and Practice of Clinical Genetics(p. 305)
• Dysmorphology and Clinical Teratology(p. 316)
• Bioethics and Medical Genetics(p. 321)
• Answers to Study Questions(p. 327)
• Glossary(p. 339)
• Index(p. 353)

Notas de autor provistas por Syndetics

Lynn B. Jorde, PhD Professor, Department of Human Genetics University of Utah Health Sciences Center, Salt Lake City
John C. Carey, MD Professor, Division of Medical Genetics Department of Pediatrics University of Utah Health Sciences Center, Salt Lake City
Michael J. Bamshad, MD Associate Professor, Department of Pediatrics University of Utah Health Sciences Center, Salt Lake City
Raymond L. White, PhD Director, Ernest Gallo Clinic and Research Center University of California, San Francisco