Thompson and Thompson's Genetics in Medicine (Book with Web Access)
by Nussbaum, Robert L., M.D.; Mcinnes, Roderick R.; Willard, Huntington F., Ph.D.; Hamosh, Ada, M.D. (CON)Edition: 7th
Format: Paperback
Pub. Date: 2007-06-08
Publisher(s): Elsevier Science Health Science
Other versions by this Author
List Price: $84.21
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Summary
Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. In addition to the book, you will also receive STUDENT CONSULT, enabling you to access the complete contents of the book online, anywhere you go! Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. Access the complete contents of the book online, fully searchable with STUDENT CONSULT. You'll find "Integration Links" to bonus content in other STUDENT CONSULT titles · content clipping for handheld devices · an interactive community center with a wealth of additional resources · quarterly updates on the material · USMLE questions · and much more!
Table of Contents
| Introduction | p. 1 |
| Genetics and Genomics in Medicine | p. 1 |
| Onward | p. 2 |
| The Human Genome and the Chromosomal Basis of Heredity | p. 5 |
| The Human Genome and Its Chromosomes | p. 6 |
| Cell Division | p. 13 |
| Human Gametogenesis and Fertilization | p. 20 |
| Medical Relevance of Mitosis and Meiosis | p. 22 |
| The Human Genome: Gene Structure and Function | p. 25 |
| Information Content of the Human Genome | p. 25 |
| The Central Dogma: DNA [right arrow] RNA [right arrow] Protein | p. 26 |
| Gene Organization and Structure | p. 28 |
| Fundamentals of Gene Expression | p. 30 |
| Gene Expression in Action: The [beta]-Globin Gene | p. 33 |
| Gene Regulation and Changes in Activity of the Genome | p. 36 |
| Variation in Gene Expression and its Relevance to Medicine | p. 38 |
| Tools of Human Molecular Genetics | p. 41 |
| Analysis of Individual DNA and RNA Sequences | p. 41 |
| Methods of Nucleic Acid Analysis | p. 48 |
| The Polymerase Chain Reaction | p. 50 |
| DNA Sequence Analysis | p. 53 |
| Advanced Techniques Using Digital Image Capture of Fluorescence-Tagged Nucleotides | p. 55 |
| Western Blot Analysis of Proteins | p. 57 |
| Principles of Clinical Cytogenetics | p. 59 |
| Introduction to Cytogenetics | p. 59 |
| Chromosome Abnormalities | p. 65 |
| Parent-of-Origin Effects | p. 77 |
| Studies of Chromosomes in Human Meiosis | p. 81 |
| Mendelian Disorders with Cytogenetic Effects | p. 82 |
| Cytogenetic Analysis in Cancer | p. 82 |
| Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes | p. 89 |
| Autosomal Disorders | p. 89 |
| The Sex Chromosomes and Their Abnormalities | p. 98 |
| Disorders of Gonadal and Sexual Development | p. 109 |
| Patterns of Single-Gene Inheritance | p. 115 |
| Overview and Concepts | p. 115 |
| Mendelian Inheritance | p. 118 |
| Factors Affecting Pedigree Patterns | p. 119 |
| Correlating Genotype and Phenotype | p. 121 |
| Autosomal Patterns of Mendelian Inheritance | p. 122 |
| X-Linked Inheritance | p. 129 |
| Pseudoautosomal Inheritance | p. 135 |
| Mosaicism | p. 135 |
| Imprinting In Pedigrees | p. 137 |
| Unstable Repeat Expansions | p. 139 |
| Conditions that May Mimic Mendelian Inheritance of Single-Gene Disorders | p. 144 |
| Maternal Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome | p. 144 |
| Family History as Personalized Medicine | p. 146 |
| Genetics of Common Disorders with Complex Inheritance | p. 151 |
| Qualitative and Quantitative Traits | p. 152 |
| Genetic and Environmental Modifiers of Single-Gene Disorders | p. 159 |
| Examples of Multifactorial Traits for which Genetic and Environmental Factors Are Known | p. 160 |
| Genetic Variation in Individuals and Populations: Mutation and Polymorphism | p. 175 |
| Mutation | p. 175 |
| Types of Mutations and Their Consequences | p. 177 |
| Human Genetic Diversity | p. 183 |
| Inherited Variation and Polymorphism in DNA | p. 184 |
| Inherited Variation and Polymorphism in Proteins | p. 186 |
| Genotypes and Phenotypes in Populations | p. 192 |
| Factors that Disturb Hardy-Weinberg Equilibrium | p. 195 |
| Ethnic Differences in the Frequency of Various Genetic Diseases | p. 199 |
| Human Gene Mapping and Disease Gene Identification | p. 207 |
| The Genetic Landscape of the Human Genome | p. 207 |
| Mapping Human Genes by Linkage Analysis | p. 217 |
| Mapping of Complex Traits | p. 222 |
| From Gene Mapping to Gene Identification | p. 226 |
| Clinical Case Studies Illustrating Genetic Principles | p. 231 |
| Principles of Molecular Disease: Lessons from the Hemoglobinopathies | p. 323 |
| The Effect of Mutation on Protein Function | p. 323 |
| How Mutations Disrupt the Formation of Biologically Normal Proteins | p. 325 |
| The Hemoglobins | p. 326 |
| The Hemoglobinopathies | p. 329 |
| The Molecular, Biochemical, and Cellular Basis of Genetic Disease | p. 345 |
| Diseases due to Mutations in Different Classes of Proteins | p. 345 |
| Diseases Involving Enzymes | p. 348 |
| Defects in Receptor Proteins | p. 360 |
| Transport Defects | p. 364 |
| Disorders of Structural Proteins | p. 367 |
| Neurodegenerative Disorders | p. 377 |
| The Treatment of Genetic Disease | p. 393 |
| The Current State of Treatment of Genetic Disease | p. 393 |
| Special Considerations in Treating Genetic Disease | p. 395 |
| Treatment Strategies | p. 396 |
| The Molecular Treatment of Disease | p. 399 |
| Developmental Genetics and Birth Defects | p. 419 |
| Developmental Biology in Medicine | p. 419 |
| Introduction to Developmental Biology | p. 422 |
| Genes and Environment in Development | p. 424 |
| Basic Concepts of Developmental Biology | p. 426 |
| Cellular and Molecular Mechanisms in Development | p. 434 |
| Interaction of Developmental Mechanisms in Embryogenesis | p. 440 |
| Prenatal Diagnosis | p. 443 |
| Indications for Prenatal Diagnosis by Invasive Testing | p. 443 |
| Methods of Prenatal Diagnosis | p. 444 |
| Laboratory Studies | p. 453 |
| Emerging Technologies for Prenatal Diagnosis | p. 456 |
| Prenatal Prevention and Management of Genetic Disease | p. 457 |
| Genetic Counseling for Prenatal Diagnosis | p. 458 |
| Cancer Genetics and Genomics | p. 461 |
| Genetic Basis of Cancer | p. 461 |
| Oncogenes | p. 464 |
| Tumor-Suppressor Genes | p. 467 |
| Tumor Progression | p. 479 |
| Applying Genomics to Individualize Cancer Therapy | p. 479 |
| Cancer and the Environment | p. 482 |
| Personalized Genetic Medicine | p. 485 |
| Family History as Personalized Genetic Medicine | p. 485 |
| Genetic Screening in Populations | p. 487 |
| Screening for Genetic Susceptibility to Disease | p. 490 |
| Pharmacogenetics and Pharmacogenomics | p. 497 |
| Using Risk Information to Improve Care: Pharmacogenetics | p. 497 |
| Pharmacogenomics | p. 504 |
| Role of Ethnicity and Race in Personalized Medicine | p. 504 |
| Genetic Counseling and Risk Assessment | p. 507 |
| The Process of Genetic Counseling | p. 507 |
| Determining Recurrence Risks | p. 509 |
| Application of Molecular Genetics to Determination of Recurrence Risks | p. 516 |
| Empirical Recurrence Risks | p. 519 |
| Ethical Issues in Medical Genetics | p. 523 |
| Ethical Dilemmas Arising in Medical Genetics | p. 523 |
| Eugenic and Dysgenic Effects of Medical Genetics | p. 528 |
| Genetics in Medicine | p. 529 |
| Glossary | p. 531 |
| Answers to Problems | p. 551 |
| Index | p. 567 |
| Table of Contents provided by Ingram. All Rights Reserved. |
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