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Medical Genetics
Medical Genetics

Medical Genetics Updated Edition for 2006 - 2007

With Student Consult Online Access

9780323040358
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Description
The smart way to study!
Elsevier titles with STUDENT CONSULT will help you master difficult concepts and study more efficiently in print and online! Perform rapid searches. Integrate bonus content from other disciplines. Download text to your handheld device. And a lot more. Each STUDENT CONSULT title comes with full text online, a unique image library, case studies, USMLE style questions, and online note-taking to enhance your learning experience.
Product Details
Mosby
30062
9780323040358
9780323040358

Data sheet

Publication date
2006
Issue number
3
Cover
paperback
Pages count
384
Dimensions (mm)
216 x 279
Weight (g)
1040
  • 1 Background and History, 1
    What is Medical Genetics? 1
    Why is a Knowledge of Medical Genetics Important for Todays Health Care Practitioner? 1
    A Brief History, 1
    Types of Genetic Diseases, 3
    The Clinical Impact of Genetic Disease, 4


    2 Basic Cell Biology: Structure and Function of Genes and Chromosomes, 6
    DNA, RNA, and Proteins: Heredity at the Molecular Level, 7
    The Structure of Genes and the Genome, 19
    The Cell Cycle, 23


    3 Genetic Variation: Its Origin and Detection , 29
    Mutation - The Source of Genetic Variation, 29
    Detection and Measurement of Genetic Variation, 40 [this section will de-emphasize
    RFLP technology, which is now quite dated, and will contain more material on newer methods such as DNA chips, microarrays, and PCR-free detection of polymorphisms]


    4 Autosomal Dominant and Recessive Inheritance, 58
    Basic Concepts of Formal Genetics, 58
    Autosomal Dominant Inheritance, 64
    Autosomal Recessive Inheritance, 66
    Factors that May Complicate Inheritance Patterns, 69
    Consanguinity in Human Populations, 84


    5 Sex-Linked and Mitochondrial Inheritance, 89
    X inactivation, 89
    Sex-Linked Inheritance, 91
    Sex-Limited and Sex-Influenced Traits, 102
    Mitochondrial Inheritance


    6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease, 108
    Cytogenetic Technology and Nomenclature, 108
    Abnormalities of Chromosome Number, 112
    Chromosome Abnormalities and Pregnancy Loss, 122
    Abnormalities of Chromosome Structure, 122
    Chromosome Abnormalities and Clinical Phenotype, 132
    Cancer Cytogenetics, 133
    Chromosome Instability Syndromes, 134


    7 Biochemical Genetics: Disorders of Metabolism, 136
    Variants of Metabolism, 136
    Defects of Metabolic Processes, 137
    Pharmacogenetics, 154 [this section will be expanded considerably to deal with the new field of pharmacogenomics, using several examples in which genetic variation can be assayed to predict the efficacy of specific drugs]


    8 Gene Mapping and Cloning, 156
    Genetic Mapping, 156
    Physical Mapping and Cloning, 169
    The Human Genome Project [this section will deal with findings that have now emerged as a result of the near-completion of the genome project]


    9 Immunogenetics, 188
    The Immune Response: Basic Concepts, 188
    Immune Response Proteins: Genetic Basis of Structure and Diversity, 193
    The Major Histocampatibility Complex, 195
    The ABO and Rh Blood Groups, 200
    Immunodeficiency Diseases, 201


    10 Developmental Genetics, 204
    Development: Basic Concepts, 204
    Genetic Mediators of Development: The Molecular Toolbox, 205
    Pattern Formation, 209


    11 Cancer Genetics, 221
    Causes of Cancer, 221
    Cancer Genes, 223
    Major Classes of Cancer Genes, 226
    Identification of Inherited Cancer Genes, 231
    Molecular Basis of Cancer, 237
    Is Genetic Inheritance Important in Common Cancers? 238


    12 Multifactorial Inheritance and Common Diseases, 240
    Principles of Multifactorial Inheritance, 240
    Nature and Nurture: Disentangling the Effects of Genes and Environment, 247
    The Genetics of Common Diseases, 250


    13 Genetic Screening, Genetic Diagnosis, and Gene Therapy, 266
    Population Screening for Genetic Diseases, 266
    Molecular Tools for Screening and Diagnosis, 272 [additional material will appear on the use of DNA chips and other new technologies for genetic screening and diagnosis]
    Prenatal Diagnosis of Genetic Disorders and Congenital Defects, 275
    Fetal Treatment, 282
    Gene Therapy, 283
    Human cloning, genetic enhancement, and embryonic stem cell research


    14 Clinical Genetics and Genetic Counseling, 290
    The Principles and Practice of Clinical Genetics, 290
    Dysmorphology and Clinical Teratology, 300


    15 Genetics and Society
    Genetics and Privacy
    Genetic Discrimination
    Societal Implications of New Genetic Technologies


    Answers to Study Questions, 309


    Glossary, 319

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Medical Genetics
Medical Genetics
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