9780323020251

Medical Genetics

by ; ; ; ;
  • ISBN13:

    9780323020251

  • ISBN10:

    0323020259

  • Format: Paperback
  • Copyright: 2003-08-01
  • Publisher: Elsevier Science Health Science div

Note: Supplemental materials are not guaranteed with Rental or Used book purchases.

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Supplemental Materials

What is included with this book?

Summary

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. Features mini-summaries that appear in bold throughout each chapter. Supplies study questions and suggested readings at the end of each chapter. Contains a detailed glossary at the end of the book. Offers Clinical Commentary boxes that present detailed coverage of the most important genetic diseases and provide examples of modern clinical management. Demonstrates clinical relevance with boxed patient/family vignettes and coverage of ethical, legal, and social issues. Provides visual reinforcement and easy access to key information with over 230 photographs, illustrations, and tables. Includes a companion website with continuing content updates, additional clinical images, and more! Explores new technologies, including microarrays (e.g., DNA chips) and PCR-free detection of polymorphisms. Offers new material on pharmacogenomics, a field of study based on the principles of pharmacogenetics where genetic variation is assessed in order to predict a patient's response to specific drugs, including potential adverse reactions. Includes a new chapter, Genetics and Society, that discusses privacy, discrimination, and the societal implications of new genetic technologies Devotes a new section to the advances made possible by The Human Genome Project, such as the use of genomics databases to identify disease-causing genes. Contains a new section on Human Cloning, Genetic Enhancement, and Embryonic Stem Cell Research. Updates the Cancer Genetics chapter with information on new tumor suppressor genes and oncogenes, including discussion of their roles in carcinogenesis Expands the section, The Genetics of Common Diseases, with new information on genes predisposing to hypertension, type 2 diabetes, Alzheimer's disease, obesity, heart disease, and stroke.

Author Biography

Lynn B. Jorde, PhD Professor, Department of Human Genetics University of Utah Health Sciences Center, Salt Lake City John C. Carey, MD Professor, Division of Medical Genetics Department of Pediatrics University of Utah Health Sciences Center, Salt Lake City Michael J. Bamshad, MD Associate Professor, Department of Pediatrics University of Utah Health Sciences Center, Salt Lake City Raymond L. White, PhD Director, Ernest Gallo Clinic and Research Center University of California, San Francisco

Table of Contents

1 Background and History 1(5)
What is Medical Genetics?
1(1)
Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?
1(1)
A Brief History
1(2)
Types of Genetic Diseases
3(1)
The Clinical Impact of Genetic Disease
4(2)
2 Basic Cell Biology: Structure and Function of Genes and Chromosomes 6(23)
DNA, RNA, and Proteins: Heredity at the Molecular Level
6(11)
The Structure of Genes and the Genome
17(5)
The Cell Cycle
22(7)
3 Genetic Variation: Its Origin and Detection 29(22)
Mutation: The Source of Genetic Variation
29(12)
Detection and Measurement of Genetic Variation
41(10)
4 Autosomal Dominant and Recessive Inheritance 51(15)
Basic Concepts of Formal Genetics
57(6)
Autosomal Dominant Inheritance
63(2)
Autosomal Recessive Inheritance
65(3)
Factors That May Complicate Inheritance Patterns
68(15)
Consanguinity in Human Populations
83
5 Sex-linked and Mitochondrial Inheritance 66(35)
X Inactivation
88(2)
Sex-Linked Inheritance
90(11)
Sex-Limited and Sex-Influenced Traits
101(1)
Mitochondrial Inheritance
101(1)
6 Clinical Cytogenetics: The Chromosomal Basis of Human Disease 101(35)
Cytogenetic Technology and Nomenclature
107(4)
Abnormalities of Chromosome Number
111(9)
Chromosome Abnormalities and Pregnancy Loss
120(2)
Abnormalities of Chromosome Structure
122(8)
Chromosome Abnormalities and Clinical Phenotypes
130(2)
Cancer Cytogenetics
132(1)
Chromosome Instability Syndromes
133(3)
7 Biochemical Genetics: Disorders of Metabolism 136(24)
Variants of Metabolism
136(3)
Defects of Metabolic Processes
139(16)
Pharmacogenetics
155(5)
8 Gene Mapping and Cloning 160(33)
Genetic Mapping
161(13)
Physical Mapping and Cloning
174(19)
9 Immunogenetics 193(16)
The Immune Response: Basic Concepts
193(5)
Immune Response Proteins: Genetic Basis of Structure and Diversity
198(2)
The Major Histocompatibility Complex
200(5)
The ABO and Rh Blood Groups
205(1)
Immunodeficiency Diseases
206(3)
10 Developmental Genetics 209(19)
Development: Basic Concepts
209(1)
Genetic Mediators of Development: The Molecular Toolbox
210(6)
Pattern Formation
216(12)
11 Cancer Genetics 228(20)
Causes of Cancer
229(1)
Cancer Genes
230(2)
Major Classes of Cancer Genes
232(6)
Identification of Inherited Cancer Genes
238(8)
Molecular Basis of Cancer
246(1)
Is Genetic Inheritance Important in Common Cancers?
246(2)
12 Multifactorial Inheritance an Common Diseases 248
Principles of Multifactorial Inheritance
248(7)
Nature and Nurture: Disentangling the Effects of Genes and Environment
255(3)
The Genetics of Common Diseases
258
13 Genetic Testing a Gene Therapy 218(87)
Population Screening for Genetic Disease
278(6)
Molecular Tools for Screening and Diagnosis
284(4)
Prenatal Diagnosis of Genetic Disorders and Congenital Defects
288(7)
Fetal Treatment
295(1)
Gene Therapy
296(9)
14 Clinical Genetics and Genetic Counseling 305(16)
The Principles and Practice of Clinical Genetics
305(11)
Dysmorphology and Clinical Teratology
316(5)
Bioethics and Medical Genetics
321(1)
Answers to Study Questions 321(9)
Glossary 330(23)
Index 353

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