Genetics in Medicine

ISBN-10: 1416030808
ISBN-13: 9781416030805
Edition: 7th 2007 (Revised)
List price: $78.95
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Description: Through six editions, Thompson & Thompsons 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  More...

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Book details

List price: $78.95
Edition: 7th
Copyright year: 2007
Publisher: Elsevier - Health Sciences Division
Publication date: 6/8/2007
Binding: Paperback
Pages: 600
Size: 8.50" wide x 10.75" long x 1.00" tall
Weight: 3.036
Language: English

Through six editions, Thompson & Thompsons 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 understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily. In addition to the book, you will also receive STUDENT CONSULT, enabling you to access the complete contents of the book online, anywhere you go! Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics. Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies. Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos. Access the complete contents of the book online, fully searchable with STUDENT CONSULT. Youll find Integration Links to bonus content in other STUDENT CONSULT titles content clipping for handheld devices an interactive community center with a wealth of additional resources quarterly updates on the material USMLE questions and much more!

Introduction
Genetics and Genomics in Medicine
Onward
The Human Genome and the Chromosomal Basis of Heredity
The Human Genome and Its Chromosomes
Cell Division
Human Gametogenesis and Fertilization
Medical Relevance of Mitosis and Meiosis
The Human Genome: Gene Structure and Function
Information Content of the Human Genome
The Central Dogma: DNA [right arrow] RNA [right arrow] Protein
Gene Organization and Structure
Fundamentals of Gene Expression
Gene Expression in Action: The [beta]-Globin Gene
Gene Regulation and Changes in Activity of the 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
DNA Sequence Analysis
Advanced Techniques Using Digital Image Capture of Fluorescence-Tagged Nucleotides
Western Blot Analysis of Proteins
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
Disorders of Gonadal and Sexual Development
Patterns of Single-Gene Inheritance
Overview and Concepts
Mendelian Inheritance
Factors Affecting Pedigree Patterns
Correlating Genotype and Phenotype
Autosomal Patterns of Mendelian Inheritance
X-Linked Inheritance
Pseudoautosomal Inheritance
Mosaicism
Imprinting In Pedigrees
Unstable Repeat Expansions
Conditions that May Mimic Mendelian Inheritance of Single-Gene Disorders
Maternal Inheritance of Disorders Caused by Mutations in the Mitochondrial Genome
Family History as Personalized Medicine
Genetics of Common Disorders with Complex Inheritance
Qualitative and Quantitative Traits
Genetic and Environmental Modifiers of Single-Gene Disorders
Examples of Multifactorial Traits for which Genetic and Environmental Factors Are Known
Genetic Variation in Individuals and Populations: Mutation and Polymorphism
Mutation
Types of Mutations and Their Consequences
Human Genetic Diversity
Inherited Variation and Polymorphism in DNA
Inherited Variation and Polymorphism in Proteins
Genotypes and Phenotypes in Populations
Factors that Disturb Hardy-Weinberg Equilibrium
Ethnic Differences in the Frequency of Various Genetic Diseases
Human Gene Mapping and Disease Gene Identification
The Genetic Landscape of the Human Genome
Mapping Human Genes by Linkage Analysis
Mapping of Complex Traits
From Gene Mapping to Gene Identification
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
The Hemoglobins
The Hemoglobinopathies
The Molecular, Biochemical, and Cellular Basis of Genetic Disease
Diseases due to Mutations in Different Classes of Proteins
Diseases Involving Enzymes
Defects in Receptor Proteins
Transport Defects
Disorders of Structural Proteins
Neurodegenerative Disorders
The Treatment of Genetic Disease
The Current State of Treatment of Genetic Disease
Special Considerations in Treating Genetic Disease
Treatment Strategies
The Molecular Treatment of Disease
Developmental Genetics and Birth Defects
Developmental Biology in Medicine
Introduction to Developmental Biology
Genes and Environment in Development
Basic Concepts of Developmental Biology
Cellular and Molecular Mechanisms in Development
Interaction of Developmental Mechanisms in Embryogenesis
Prenatal Diagnosis
Indications for Prenatal Diagnosis by Invasive Testing
Methods of Prenatal Diagnosis
Laboratory Studies
Emerging Technologies for Prenatal Diagnosis
Prenatal Prevention and Management of Genetic Disease
Genetic Counseling for Prenatal Diagnosis
Cancer Genetics and Genomics
Genetic Basis of Cancer
Oncogenes
Tumor-Suppressor Genes
Tumor Progression
Applying Genomics to Individualize Cancer Therapy
Cancer and the Environment
Personalized Genetic Medicine
Family History as Personalized Genetic Medicine
Genetic Screening in Populations
Screening for Genetic Susceptibility to Disease
Pharmacogenetics and Pharmacogenomics
Using Risk Information to Improve Care: Pharmacogenetics
Pharmacogenomics
Role of Ethnicity and Race in Personalized Medicine
Genetic Counseling and Risk Assessment
The Process of Genetic Counseling
Determining Recurrence Risks
Application of Molecular Genetics to Determination of Recurrence Risks
Empirical Recurrence Risks
Ethical Issues in Medical Genetics
Ethical Dilemmas Arising in Medical Genetics
Eugenic and Dysgenic Effects of Medical Genetics
Genetics in Medicine
Glossary
Answers to Problems
Index

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