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Thompson and Thompson Genetics in Medicine

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ISBN-10: 0721602444

ISBN-13: 9780721602448

Edition: 6th 2004 (Revised)

Authors: Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard, Margaret W. Thompson

List price: $59.95
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Description:

This text aims to provide an 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.
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Book details

List price: $59.95
Edition: 6th
Copyright year: 2004
Publisher: Elsevier - Health Sciences Division
Publication date: 4/9/2004
Binding: Hardcover
Pages: 540
Size: 8.25" wide x 11.00" long x 1.00" tall
Weight: 2.750
Language: English

Introduction
The Role of Genetics in Medicine
Classification of Genetic Disorders
Onward
Chromosomal Basis of Heredity
The Human Chromosomes
The Life Cycle of a Somatic Cell
Meiosis
Human Gametogenesis and Fertilization
Medical Relevance of Mitosis and Meiosis
The Human Genome: Structure and Function of Genes and Chromosomes
DNA Structure: A Brief Review
The Central Dogma: DNA to RNA to Protein
Fundamentals of Gene Expression
Structure of Human Chromosomes
Organization of the Human Genome
Variation in Gene Expression and Its Relevance to Medicine
Tools of Human Molecular Genetics
Analysis of Individual DNA and RNA Sequences
Methods of Nucleic Acid Analysis
The Polymerase Chain Reaction
In Situ Hybridization to Chromosomes
DNA Sequence Analysis
Methods of Protein Analysis
Patterns of Single-Gene Inheritance
Terminology
Genetic Disorders with Classical Mendelian Inheritance
Autosomal Recessive Inheritance
Patterns of Autosomal Dominant Inheritance
X-linked Inheritance
Patterns of Pseudoautosomal Inheritance
Atypical Patterns of Inheritance
Summary
Genetic Variation in Individuals: Mutation and Polymorphism
Mutation
The Molecular Basis of Mutations and Their Detection
Human Genetic Diversity
Inherited Variation and Polymorphism in Proteins
Inherited Variation and Polymorphism in DNA
Uses of Polymorphisms in Medical Genetics
Genetic Variation in Populations
Genetic Diversity in Human Populations
Phenotypes, Genotypes, and Gene Frequencies
The Hardy-Weinberg Law
Frequency of X-Linked Genes and Genotypes
Factors That Disturb Hardy-Weinberg Equilibrium
Conclusion
Gene Mapping and the Human Genome Project
Physical Mapping of Human Genes
Mapping Human Genes by Linkage Analysis
Applications of Human Gene Mapping
The Human Genome Project
Principles of Clinical Cytogenetics
Introduction to Cytogenetics
Chromosome Abnormalities
Parent-of-Origin Effects
Studies of Chromosomes in Human Meiosis
Mendelian Disorders with Cytogenetic Effects
Cytogenetic Analysis in Cancer
Clinical Cytogenetics: Disorders of the Autosomes and the Sex Chromosomes
Autosomal Disorders
The Sex Chromosomes and Their Abnormalities
Clinical Case Studies Illustrating Genetic Principles
Principles of Molecular Disease: Lessons from the Hemoglobinopathies
The Effect of Mutation on Protein Function
How Mutations Disrupt the Formation of Biologically Normal Proteins
Hemoglobins and Their Diseases
Genetic Disorders of Hemoglobin
Conclusion
The Molecular and Biochemical Basis of Genetic Disease
Diseases Due to Mutations in Different Classes of Proteins
Enzyme Defects
Defects in Receptor Proteins
Transport Defects
Disorders of Structural Proteins
Neurodegenerative Disorders
Pharmacogenetic Diseases
Conclusion
The Treatment of Genetic Disease
The Current State of Treatment of Genetic Disease
Special Considerations in Treating Genetic Disease
Treatment Strategies
Genetics of the Immune System
The Major Histocompatibility Complex
Immunoglobulins
The T-Cell Antigen Receptor
Single-Gene Disorders of the Immune System
Genetics of Disorders with Complex Inheritance
Genetic Analysis of Qualitative Disease Traits
Genetic Analysis of Quantitative Traits
Genetic Mapping of Complex Traits
Diseases with Complex Inheritance
Conclusion
Genetics and Cancer
Cancer Biology
Genetic Basis of Cancer
Oncogenes
Tumor-Suppressor Genes
Tumor Progression by Clonal Evolution
Cancer and the Environment
Conclusion
Genetic Aspects of Development
Introduction to Developmental Biology
Genes in Development
Early Development: Fertilization to Gastrulation
Gene Expression During Development
Developmental Genetics in Clinical Practice
Recent Advances in Developmental Genetics and Potential Applications
Prenatal Diagnosis
Indications for Prenatal Diagnosis
Genetic Counseling for Prenatal Diagnosis
Methods of Prenatal Diagnosis
Emerging Technologies for Prenatal Diagnosis
Laboratory Studies
The Effect of Prenatal Diagnosis on the Prevention and Management of Genetic Disease
Conclusion
Genetic Counseling and Risk Assessment
Genetic Counseling
Case Management in Genetic Counseling
Determining Recurrence Risks
Conclusion
Genetics and Society
Population Screening for Genetic Disease
Ethical Issues in Medical Genetics
Eugenic and Dysgenic Effects on Gene Frequencies
Conclusion
Glossary
Answers to Problems
Index