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Genetics in Medicine Thompson

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Описание

Contents
Chapter 1

Introduction, 1

Genetics and Genomics in Medicine, 1 Onward, 2

Chapter 2

The Human Genome and the Chromosomal Basis of Heredity, 5

The Human Genome and Its Chromosomes, 6 Cell Division, 13

Human Gametogenesis and Fertilization, 20 Medical Relevance of Mitosis and Meiosis, 22

Chapter 3

The Human Genome: Gene Structure and Function, 25

Information Content of the Human Genome, 25 The Central Dogma:

DNA —» RNA —» Protein, 26 Gene Organization and Structure, 28 Fundamentals of Gene Expression, 30 Gene Expression in Action: The p-Globin Gene, 33

Gene Regulation and Changes in Activity of the Genome, 36

Variation in Gene Expression and its Relevance to Medicine, 38

Chapter 4

Toois of Human Molecular Genetics, 41 Analysis of Individual DNA and RNA Sequences, 41

Methods of Nucleic Acid Analysis, 48 The Polymerase Chain Reaction, 50 DNA Sequence Analysis, 53 Advanced Techniques Using Digital Image Capture of Fluorescence-Tagged Nucleotides, 55

Western Blot Analysis of Proteins, 57
Chapter 5

Principles of Clinical Cytogenetics, 59

Introduction to Cytogenetics, 59

Chromosome Abnormalities, 65

Parent-of-Origin Effects, 77

Studies of Chromosomes in Human Meiosis, 81

Mendelian Disorders with Cytogenetic Effects. 82

Cytogenetic Analysis in Cancer, 82

Chapter 6

Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes, 89

Autosomal Disorders, 89 The Sex Chromosomes and Their Abnormalities, 98 Disorders of Gonadal and Sexual Development, 109

Chapter 7

Patterns of Single-Gene Inheritance, 115

Overview and Concepts, 115 Mendelian Inheritance, 118 Factors Affecting Pedigree Patterns, 119 Correlating Genotype and Phenotype, 121 Autosomal Patterns of Mendelian Inheritance, 122 X-Linked Inheritance, 129 Pseudoautosomal Inheritance, 135 Mosaicism, 135 Imprinting In Pedigrees, 137 Unstable Repeat Expansions, 139 Conditions that May Mimic Mendelian Inheritance of Single-Gene Disorders, 144 Maternal Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome, 144 Family History as Personalized Medicine, 146 :

Chapter 8

Genetics of Common Disorders with Complex Inheritance, 151

Qualitative and Quantitative Traits, 152 Genetic and Environmental Modifiers of Single-Gene Disorders, 159

Examples of Multifactorial Traits for which Genetic and Environmental Factors Are Known, 160

Chapter 9

Genetic Variation in Individuals and Populations: Mutation and Polymorphism, 175 . . - —

; Mutation, 175

: Types of Mutations and Their Consequences, 177 . Human Genetic Diversity, 183 Inherited Variation and Polymorphism in DMA, 184

Inherited Variation and Polymorphism in Proteins, 186

Genotypes and Phenotypes in Populations, 192 Factors that Disturb Hardy-Weinberg Equilibrium, 195

Ethnic Differences in the Frequency of Various Genetic Diseases, 199

Chapter 10

Human Gene Mapping and Disease Gene iaentification, 207

The Genetic Landscape of the Human

Genome, 207

Mapping Human Genes by Linkage Analysis, 217

Mapping of Complex Traits, 222

From Gene Mapping to Gene Identification, 226

Clinical Case Studies Illustrating Genetic Principles, 231

Chapter 11

Principles of Molecular Disease: Lessons from the Hemoglobinopathies, 323

The Effect of Mutation on Protein Function, 323 How Mutations Disrupt the Formation of Biologically Normal Proteins, 325 The Hemoglobins, 326 The Hemoglobinopathies, 329

Chapter 12

Tne Molecular, Biochemical, and Cellular Basis of Genetic Disease, 345

Diseases due to Mutations in Different Classes of Proteins, 345

Diseases Involving Enzymes, 348

Defects in Receptor Proteins, 360 Transport Defects, 364 Disorders of Structural Proteins, 367 Neurodegenerative Disorders, 377

Chapter 13

The Treatment of Genetic Disease, 393

The Current State of Treatment of Genetic Disease, 393

Special Considerations in Treating Genetic Disease, 395

Treatment Strategies, 396

The Molecular Treatment of Disease, 399

Chapter 14

Developmental Genetics and Birth Defects, 419

(with the assistance of Leslie G. Biesecker, MD)

Developmental Biology in Medicine, 419 Introduction to Developmental Biology, 422 Genes and Environment in Development, 424 Basic Concepts of Developmental Biology, 426 Cellular and Molecular Mechanisms in Development, 434

Interaction of Developmental Mechanisms in Embcyogenesis, 440

Chapter 15

Prenatal Diagnosis, 443

Indications for Prenatal Diagnosis by Invasive Testing, 443

Methods of Prenatal Diagnosis, 444 Laboratory Studies, 453 Emerging Technologies for Prenatal Diagnosis, 456

Prenatal Prevention and Management of Genetic Disease, 457

Genetic Counseling for Prenatal Diagnosis, 458 Chapter 16

Cancer Genetics and Genomics, 461

Genetic Basis of Cancer, 461 Oncogenes, 464 Tumor-Suppressor Genes, 467 Tumor Progression, 479 Applying Genomics to Individualize Cancer Therapy, 479

Cancer and the Environment, 482

Chapter 17

Personalized Genetic Medicine, 485

Family History as Personalized Genetic

Medicine, 485

Genetic Screening in Populations, 487 Screening for Genetic Susceptibility to Disease, 490

Chapter 18

- Pharmacogenetics and Ph arm acoge n o m i cs, 497

Using Risk Information to Improve Care: Pharmacogenetics, 497 Pharmacogenomics, 504 Role of Ethnicity and Race in Personalized Medicine, 504
Application of Molecular Genetics tp Determination of Recurrence'Risk's, 516 Empirical Recurrence Risks, 519

Chapter 20

Ethical Issues in Medical Genetics, 523

Ethical Dilemmas Arising in Medical Genetics, 523

Eugenic and Dysgenic Effects of Medical Genetics, 528 Genetics in Medicine, 529

Glossary, 531

Answers to Problems, 551

Index, 567
Chapter 19