Thompson & Thompson genetics in medicine.

Format:

Book

Author/Creator:

Nussbaum, Robert L., 1950-

Contributor:

McInnes, Roderick R.

Willard, Huntington F.

Thompson, Margaret W. (Margaret Wilson), 1920-2014.

Anne and Joseph Trachtman Memorial Book Fund.

Language:

English

Subjects (All):

Medical genetics.

Genetics, Medical.

Medical Subjects:

Genetics, Medical.

Physical Description:

xi, 585 pages : illustrations (some color) ; 28 cm

Edition:

Seventh edition / Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard.

Other Title:

Genetics in medicine

Thompson and Thompson genetics in medicine

Place of Publication:

Philadelphia : Saunders Elsevier, [2007]

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 diagnose and manage a wide range of genetic disorders. This thoroughly updated 7th edition enables you to...: Acquire the state-of-the-art knowledge you need on how human genetics and genomics are changing the practice of medicine. Obtain a thorough overview of the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, developmental genetics, and cancer genetics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of illustrative genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos.

Contents:

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 [right arrow] RNA [right arrow] Protein 26

Gene Organization and Structure 28

Fundamentals of Gene Expression 30

Gene Expression in Action: The [beta]-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 Tools 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

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

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 DNA 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 Identification 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 The 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 / Leslie G. Biesecker, MD 419

Developmental Biology in Medicine 419

Genes and Environment in Development 424

Basic Concepts of Developmental Biology 426

Cellular and Molecular Mechanisms in Development 434

Interaction of Developmental Mechanisms in Embryogenesis 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 Pharmacogenomics 497

Using Risk Information to Improve Care: Pharmacogenetics 497

Pharmacogenomics 504

Role of Ethnicity and Race in Personalized Medicine 504

Chapter 19 Genetic Counseling and Risk Assessment 507

The Process of Genetic Counseling 507

Determining Recurrence Risks 509

Application of Molecular Genetics to Determination of Recurrence Risks 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

Answers to Problems 551.

Notes:

Includes bibliographical references and index.

Local Notes:

Acquired for the Penn Libraries with assistance from the Anne and Joseph Trachtman Memorial Book Fund.

Related Work:

Thompson, Margaret W. (Margaret Wilson), 1920-2014. Thompson &Thompson genetics in medicine.

ISBN:

1416030808

9781416030805

OCLC:

72774424