9780323035682: Medical Genetics

Sinossi

This is one of the few medical genetics texts on a 2-year revision cycle. It provides up-to-date information that can be read, retained, and applied with ease! The 3rd Edition covers pharmacogenomics, the societal implications of technologies, the Human Genome Project, cloning, genetic enhancement, and embryonic stem cell research, new tumor suppressor genes and oncogenes, and more. Mini-summaries, study questions, suggested readings, and a detailed glossary facilitate review of the material. Clinical relevance is demonstrated in over 230 photographs, illustrations, and tables as well as boxes containing patient/family vignettes. Its coverage includes ethical, legal, and social issues and clinical commentary on important genetic diseases. A companion web site offers continuing updates and a wealth of additional features.

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Le informazioni nella sezione "Riassunto" possono far riferimento a edizioni diverse di questo titolo.

Contenuti

  • Background and History - What is Medical Genetics?
  • Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?
  • A Brief History
  • Types of Genetic Diseases
  • The Clinical Impact of Genetic Disease
  • Basic Cell Biology: Structure and Function of Genes and Chromosomes - DNA, RNA, and Proteins: Heredity at the Molecular Level
  • The Structure of Genes and the Genome
  • The Cell Cycle
  • Genetic Variation: Its Origin and Detection - Mutation - The Source of Genetic Variation
  • Detection and Measurement of Genetic Variation
  • Autosomal Dominant and Recessive Inheritance - Basic Concepts of Formal Genetics
  • Autosomal Dominant Inheritance
  • Autosomal Recessive Inheritance
  • Factors That May Complicate Inheritance Patterns
  • Consanguinity in Human Populations
  • Sex-Linked and Mitochondrial Inheritance - X Inactivation
  • Sex-Linked Inheritance
  • Sex-Limited and Sex-Influenced Traits
  • Mitochondrial Inheritance
  • Clinical Cytogenetics: The Chromosomal Basis of Human Disease - Cytogenetic Technology and Nomenclature
  • Abnormalities of Chromosome Number
  • Chromosome Abnormalities and Pregnancy Loss
  • Abnormalities of Chromosome Structure
  • Chromosome Abnormalities and Clinical Phenotype
  • Cancer Cytogenetics
  • Chromosome Instability Syndromes
  • Biochemical Genetics: Disorders of Metabolism - Variants of Metabolism
  • Defects of Metabolic Processes
  • Pharmacogenetics
  • Gene Mapping and Cloning - Genetic Mapping
  • Physical Mapping and Cloning
  • The Human Genome Project
  • Immunogenetics - The Immune Response: Basic Concepts
  • Immune Response Proteins: Genetic Basis of Structure and Diversity
  • The Major Histocompatibility Complex
  • The ABO and Rh Blood Groups
  • Immunodeficiency Diseases
  • Developmental Genetics - Development: Basic Concepts
  • Genetic Mediators of Development: The Molecular Toolbox
  • Pattern Formation
  • Cancer Genetics - Causes of Cancer
  • Cancer Genes
  • Major Classes of Cancer Genes
  • Identification of Inherited Cancer Genes
  • Molecular Basis of Cancer
  • Is Genetic Inheritance Important in Common Cancers?
  • Multifactorial Inheritance and Common Diseases - Principles of Multifactorial Inheritance
  • Nature and Nurture: Disentangling the Effects of Genes and Environment
  • The Genetics of Common Diseases
  • Genetic Screening, Genetic Diagnosis, and Gene Therapy - Population Screening for Genetic Diseases
  • Molecular Tools for Screening and Diagnosis
  • Prenatal Diagnosis of Genetic Disorders and Congenital Defects
  • Fetal Treatment
  • Gene Therapy
  • Human Cloning, Genetic Enhancement, and Embryonic Stem Cell Research
  • Clinical Genetics and Genetic Counseling - The Principles and Practice of Clinical Genetics
  • Dysmorphology and Clinical Teratology
  • Genetics and Society - Genetics and Privacy
  • Genetic Discrimination
  • Societal Implications of New Genetic Technologies
  • Answers to Study Questions
    Glossary

    Product Description

    Book by Jorde Lynn B Carey John C Bamshad Michael J White

    Le informazioni nella sezione "Su questo libro" possono far riferimento a edizioni diverse di questo titolo.

    Altre edizioni note dello stesso titolo

    9780323020251: Medical Genetics

    Edizione in evidenza

    ISBN 10:  0323020259 ISBN 13:  9780323020251
    Casa editrice: Mosby, 2003
    Brossura