Additional Information
Book Details
Abstract
Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list.
- This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. .
- Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text.
- Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes.
- Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention.
- Presents a new chapter on genomics and personalized medicine for the latest on these hot topics.
- Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics.
- Includes study questions at the end of every chapter so you can test yourself and retain the material.
- Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.
Table of Contents
Section Title | Page | Action | Price |
---|---|---|---|
Front Cover | Cover | ||
Medical Genetics | iii | ||
Copyright Page | iv | ||
Dedication Page | v | ||
Foreword | vii | ||
Preface | ix | ||
Contents | xi | ||
Chapter 1: Background and History | 1 | ||
What is Medical Genetics? | 1 | ||
Why is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner? | 1 | ||
A Brief History | 1 | ||
Types Of Genetic Diseases | 3 | ||
The Clinical Impact of Genetic Disease | 3 | ||
Suggested Readings | 4 | ||
Chapter 2: Basic Cell Biology: Structure and Function of Genes and Chromosomes | 5 | ||
DNA, RNA, and Proteins: Heredity at the Molecular Level | 5 | ||
The Structure of Genes and the Genome | 18 | ||
The Cell Cycle | 20 | ||
Suggested Readings | 25 | ||
Chapter 3: Genetic Variation: Its Origin and Detection | 26 | ||
Mutation: the Source of Genetic Variation | 27 | ||
Detection and Measurement of Genetic Variation | 38 | ||
Genetic Variation in Populations | 49 | ||
Suggested Readings | 55 | ||
Chapter 4: Autosomal Dominant and Recessive Inheritance | 56 | ||
Basic Concepts of Formal Genetics | 56 | ||
Autosomal Dominant Inheritance | 59 | ||
Autosomal Recessive Inheritance | 61 | ||
Factors that Affect Expression of Disease-Causing Genes | 63 | ||
Consanguinity in Human Populations | 71 | ||
Suggested Readings | 74 | ||
Chapter 5: Sex-Linked and Nontraditional Modes of Inheritance | 76 | ||
X Inactivation | 76 | ||
Sex-Linked Inheritance | 78 | ||
Sex-Limited and Sex-Influenced Traits | 88 | ||
Mitochondrial Inheritance | 88 | ||
Genomic Imprinting | 89 | ||
Suggested Readings | 98 | ||
Chapter 6: Clinical Cytogenetics: The Chromosomal Basis of Human Disease | 100 | ||
Cytogenetic Technology and Nomenclature | 100 | ||
Abnormalities of Chromosome Number | 105 | ||
Chromosome Abnormalities and Pregnancy Loss | 114 | ||
Abnormalities of Chromosome Structure | 114 | ||
Chromosome Abnormalities and Clinical Phenotypes | 123 | ||
Cancer Cytogenetics | 125 | ||
Chromosome Instability Syndromes | 126 | ||
Suggested Readings | 126 | ||
Chapter 7: Biochemical Genetics: Disorders of Metabolism | 128 | ||
Variants of Metabolism | 129 | ||
Defects of Metabolic Processes | 131 | ||
Suggested Readings | 149 | ||
Chapter 8: Gene Mapping and Identification | 150 | ||
Gene Mapping | 150 | ||
Physical Mapping and Cloning | 164 | ||
Suggested Readings | 175 | ||
Chapter 9: Immunogenetics | 176 | ||
The Immune Response: Basic Concepts | 176 | ||
Immune Response Proteins: Genetic Basis of Structure and Diversity | 181 | ||
The Major Histocompatibility Complex | 184 | ||
Immunodeficiency Diseases | 189 | ||
Suggested Readings | 192 | ||
Chapter 10: Developmental Genetics | 193 | ||
Development | 193 | ||
Genetic Mediators of Development: The Molecular Toolbox | 195 | ||
Pattern Formation | 201 | ||
Suggested Readings | 210 | ||
Chapter 11: Cancer Genetics | 212 | ||
Causes of Cancer | 212 | ||
Cancer Genes | 214 | ||
Major Classes of Cancer Genes | 217 | ||
Identification of Oncogenes | 219 | ||
Identification of Inherited Cancer-Causing Genes | 221 | ||
Is Genetic Inheritance Important in Common Cancers? | 229 | ||
Suggested Readings | 230 | ||
Chapter 12: Multifactorial Inheritance and Common Diseases | 231 | ||
Principles of Multifactorial Inheritance | 231 | ||
Nature and Nurture: Disentangling the Effects of Genes and Environment | 236 | ||
The Genetics of Common Diseases | 239 | ||
Some General Principles and Conclusions | 256 | ||
Suggested Readings | 256 | ||
Chapter 13: Genetic Testing and Gene Therapy | 258 | ||
Population Screening for Genetic Disease | 258 | ||
Molecular Tools for Screening and Diagnosis | 263 | ||
Prenatal Diagnosis of Genetic Disorders and Congenital Defects | 266 | ||
Fetal Treatment | 273 | ||
Gene Therapy | 273 | ||
Suggested Readings | 282 | ||
Chapter 14: Genetics and Personalized Medicine | 284 | ||
A Technology-Driven Transformation | 284 | ||
The Impact of Genomics | 285 | ||
The Future of Personalized Medicine | 291 | ||
Suggested Readings | 291 | ||
Chapter 15: Clinical Genetics and Genetic Counseling | 292 | ||
The Principles and Practice Of Clinical Genetics | 292 | ||
Dysmorphology and Clinical Teratology | 302 | ||
Bioethics and Medical Genetics | 308 | ||
Suggested Readings | 309 | ||
Glossary | 311 | ||
Answers To Study Questions | 328 | ||
Chapter 2 | 328 | ||
Chapter 3 | 328 | ||
Chapter 4 | 329 | ||
Chapter 5 | 330 | ||
Chapter 6 | 331 | ||
Chapter 7 | 331 | ||
Chapter 8 | 333 | ||
Chapter 9 | 334 | ||
Chapter 10 | 334 | ||
Chapter 11 | 335 | ||
Chapter 12 | 336 | ||
Chapter 13 | 336 | ||
Chapter 14 | 337 | ||
Chapter 15 | 338 | ||
Index | 339 |