Cover image for Thompson & Thompson genetics in medicine.
Thompson & Thompson genetics in medicine.
Nussbaum, Robert L., 1950-
Personal Author:
Sixth edition / Robert L. Nussbaum, Rod R. McInnes, Huntington F. Willard ; with clinical case studies prepared by Cornelius F. Boerkoel III.
Publication Information:
Philadelphia : Saunders, [2001]

Physical Description:
xi, 444 pages : illustrations ; 28 cm
General Note:
Rev. ed. of: Thompson & Thompson genetics in medicine / Margaret W. Thompson, Roderick R. McInnes, Huntington F. Willard. 5th ed. c1991.
Format :


Call Number
Material Type
Home Location
Item Holds
RB155 .T5 2001 Adult Non-Fiction Central Closed Stacks-Oversize

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For 35 years, THOMPSON AND THOMPSON GENETICS IN MEDICINE has been a favorite genetics textbook for medical students. This long-awaited sixth edition continues to provide a readable and understandable review of the basic principles of medical genetics, including recent advances in molecular genetics and the clinical applications of this new knowledge for the diagnosis and management of genetic disorders. Now brought completely up to date, this edition has been extensively revised and includes new information on developmental defects, genetics of complex diseases, genetics of cancer, molecular and biochemical basis of genetics, and the human genome project. It also features an all-new set of 29 clinical cases with color photographs to assist students in relating basic genetics to clinical genetic disease. These cases will also help instructors integrate clinical material into their courses.

Author Notes

Robert L. Nussbaum is Chief, Genetic Diseases Research Branch; Acting Chief, Inherited Disease Research Branch, National Human Genome Research Institute; Executive Faculty, Johns Hopkins/NHGRI Joint Genetic Counseling Graduate Program, National Institutes of Health, Bethesda, Maryland.

Table of Contents

Chapter 1 Introductionp. 1
The Role of Genetics in Medicinep. 1
Classification of Genetic Disordersp. 2
Onwardp. 2
Chapter 2 Chromosomal Basis of Heredityp. 4
The Human Chromosomesp. 5
The Life Cycle of a Somatic Cellp. 5
Meiosisp. 9
Human Gametogenesis and Fertilizationp. 12
Medical Relevance of Mitosis and Meiosisp. 15
Chapter 3 The Human Genome: Structure and Function of Genes and Chromosomesp. 17
DNA Structure: A Brief Reviewp. 17
The Central Dogma: DNA to RNA to Proteinp. 18
Fundamentals of Gene Expressionp. 22
Structure of Human Chromosomesp. 27
Organization of the Human Genomep. 30
Variation in Gene Expression and Its Relevance to Medicinep. 31
Chapter 4 Tools of Human Molecular Geneticsp. 33
Analysis of Individual DNA and RNA Sequencesp. 33
Methods of Nucleic Acid Analysisp. 41
The Polymerase Chain Reactionp. 44
In Situ Hybridization to Chromosomesp. 46
DNA Sequence Analysisp. 48
Methods of Protein Analysisp. 49
Chapter 5 Patterns of Single-Gene Inheritancep. 51
Terminologyp. 51
Genetic Disorders with Classical Mendelian Inheritancep. 53
Autosomal Recessive Inheritancep. 56
Patterns of Autosomal Dominant Inheritancep. 61
X-linked Inheritancep. 65
Patterns of Pseudoautosomal Inheritancep. 71
Atypical Patterns of Inheritancep. 72
Summaryp. 77
Chapter 6 Genetic Variation in Individuals: Mutation and Polymorphismp. 79
Mutationp. 79
The Molecular Basis of Mutations and Their Detectionp. 81
Human Genetic Diversityp. 87
Inherited Variation and Polymorphism in Proteinsp. 87
Inherited Variation and Polymorphism in DNAp. 90
Uses of Polymorphisms in Medical Geneticsp. 93
Chapter 7 Genetic Variation in Populationsp. 95
Genetic Diversity in Human Populationsp. 95
Phenotypes, Genotypes, and Gene Frequenciesp. 96
The Hardy-Weinberg Lawp. 97
Frequency of X-Linked Genes and Genotypesp. 98
Factors That Disturb Hardy-Weinberg Equilibriump. 99
Conclusionp. 108
Chapter 8 Gene Mapping and the Human Genome Projectp. 111
Physical Mapping of Human Genesp. 111
Mapping Human Genes by Linkage Analysisp. 118
Applications of Human Gene Mappingp. 125
The Human Genome Projectp. 132
Chapter 9 Principles of Clinical Cytogeneticsp. 135
Introduction to Cytogeneticsp. 135
Chromosome Abnormalitiesp. 140
Parent-of-Origin Effectsp. 151
Studies of Chromosomes in Human Meiosisp. 153
Mendelian Disorders with Cytogenetic Effectsp. 153
Cytogenetic Analysis in Cancerp. 154
Chapter 10 Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomesp. 157
Autosomal Disordersp. 157
The Sex Chromosomes and Their Abnormalitiesp. 165
Clinical Case Studies Illustrating Genetic Principles
Chapter 11 Principles of Molecular Disease: Lessons from the Hemoglobinopathiesp. 181
The Effect of Mutation on Protein Functionp. 181
How Mutations Disrupt the Formation of Biologically Normal Proteinsp. 183
Hemoglobins and Their Diseasesp. 184
Genetic Disorders of Hemoglobinp. 187
Conclusionp. 201
Chapter 12 The Molecular and Biochemical Basis of Genetic Diseasep. 203
Diseases Due to Mutations in Different Classes of Proteinsp. 203
Enzyme Defectsp. 206
Defects in Receptor Proteinsp. 218
Transport Defectsp. 222
Disorders of Structural Proteinsp. 225
Neurodegenerative Disordersp. 234
Pharmacogenetic Diseasesp. 249
Conclusionp. 253
Chapter 13 The Treatment of Genetic Diseasep. 255
The Current State of Treatment of Genetic Diseasep. 255
Special Considerations in Treating Genetic Diseasep. 257
Treatment Strategiesp. 258
Chapter 14 Genetics of the Immune Systemp. 277
The Major Histocompatibility Complexp. 277
Immunoglobulinsp. 281
The T-Cell Antigen Receptorp. 284
Single-Gene Disorders of the Immune Systemp. 285
Chapter 15 Genetics of Disorders with Complex Inheritancep. 289
Genetic Analysis of Qualitative Disease Traitsp. 289
Genetic Analysis of Quantitative Traitsp. 293
Genetic Mapping of Complex Traitsp. 297
Diseases with Complex Inheritancep. 299
Conclusionp. 309
Chapter 16 Genetics and Cancerp. 311
Cancer Biologyp. 311
Genetic Basis of Cancerp. 312
Oncogenesp. 313
Tumor-Suppressor Genesp. 320
Tumor Progression by Clonal Evolutionp. 330
Cancer and the Environmentp. 331
Conclusionp. 332
Chapter 17 Genetic Aspects of Developmentp. 335
Introduction to Developmental Biologyp. 335
Genes in Developmentp. 336
Early Development: Fertilization to Gastrulationp. 339
Gene Expression During Developmentp. 341
Developmental Genetics in Clinical Practicep. 350
Recent Advances in Developmental Genetics and Potential Applicationsp. 355
Chapter 18 Prenatal Diagnosisp. 359
Indications for Prenatal Diagnosisp. 359
Genetic Counseling for Prenatal Diagnosisp. 360
Methods of Prenatal Diagnosisp. 360
Emerging Technologies for Prenatal Diagnosisp. 368
Laboratory Studiesp. 369
The Effect of Prenatal Diagnosis on the Prevention and Management of Genetic Diseasep. 372
Conclusionp. 372
Chapter 19 Genetic Counseling and Risk Assessmentp. 375
Genetic Counselingp. 375
Case Management in Genetic Counselingp. 377
Determining Recurrence Risksp. 379
Conclusionp. 388
Chapter 20 Genetics and Societyp. 391
Population Screening for Genetic Diseasep. 391
Ethical Issues in Medical Geneticsp. 393
Eugenic and Dysgenic Effects on Gene Frequenciesp. 396
Conclusionp. 397
Glossaryp. 399
Answers to Problemsp. 415
Indexp. 427