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Medical Genetics E-Book

Medical Genetics E-Book

Lynn B. Jorde | John C. Carey | Michael J. Bamshad

(2009)

Additional Information

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