Genetica Medica

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  • Format: Paperback
  • Copyright: 1999-12-01
  • Publisher: Elsevier Science Health Science div

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Supplemental Materials

What is included with this book?


Translation of Jorde: Medical Genetics, 2e

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

Background and Historyp. 1
What is Medical Genetics?p. 1
Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?p. 1
A Brief Historyp. 1
Types of Genetic Diseasesp. 3
The Clinical Impact of Genetic Diseasep. 4
Basic Cell Biology: Structure and Function of Genes and Chromosomesp. 6
DNA, RNA, and Proteins: Heredity at the Molecular Levelp. 6
The Structure of Genes and the Genomep. 17
The Cell Cyclep. 22
Genetic Variation: Its Origin and Detectionp. 29
Mutation: The Source of Genetic Variationp. 29
Detection and Measurement of Genetic Variationp. 41
Autosomal Dominant and Recessive Inheritancep. 57
Basic Concepts of Formal Geneticsp. 57
Autosomal Dominant Inheritancep. 63
Autosomal Recessive Inheritancep. 65
Factors That May Complicate Inheritance Patternsp. 68
Consanguinity in Human Populationsp. 83
Sex-Linked and Mitochondrial Inheritancep. 88
X Inactivationp. 88
Sex-Linked Inheritancep. 90
Sex-Limited and Sex-Influenced Traitsp. 101
Mitochondrial Inheritancep. 101
Clinical Cytogenetics: The Chromosomal Basis of Human Diseasep. 107
Cytogenetic Technology and Nomenclaturep. 107
Abnormalities of Chromosome Numberp. 111
Chromosome Abnormalities and Pregnancy Lossp. 120
Abnormalities of Chromosome Structurep. 122
Chromosome Abnormalities and Clinical Phenotypesp. 130
Cancer Cytogeneticsp. 132
Chromosome Instability Syndromesp. 133
Biochemical Genetics: Disorders of Metabolismp. 136
Variants of Metabolismp. 136
Defects of Metabolic Processesp. 139
Pharmacogeneticsp. 155
Gene Mapping and Cloningp. 160
Genetic Mappingp. 161
Physical Mapping and Cloningp. 174
Immunogeneticsp. 193
The Immune Response: Basic Conceptsp. 193
Immune Response Proteins: Genetic Basis of Structure and Diversityp. 198
The Major Histocompatibility Complexp. 200
The ABO and Rh Blood Groupsp. 205
Immunodeficiency Diseasesp. 206
Developmental Geneticsp. 209
Development: Basic Conceptsp. 209
Genetic Mediators of Development: The Molecular Toolboxp. 210
Pattern Formationp. 216
Cancer Geneticsp. 228
Causes of Cancerp. 229
Cancer Genesp. 230
Major Classes of Cancer Genesp. 232
Identification of Inherited Cancer Genesp. 238
Molecular Basis of Cancerp. 246
Is Genetic Inheritance Important in Common Cancers?p. 246
Multifactorial Inheritance and Common Diseasesp. 248
Principles of Multifactorial Inheritancep. 248
Nature and Nurture: Disentangling the Effects of Genes and Environmentp. 255
The Genetics of Common Diseasesp. 258
Genetic Testing and Gene Therapyp. 278
Population Screening for Genetic Diseasep. 278
Molecular Tools for Screening and Diagnosisp. 284
Prenatal Diagnosis of Genetic Disorders and Congenital Defectsp. 288
Fetal Treatmentp. 295
Gene Therapyp. 296
Clinical Genetics and Genetic Counselingp. 305
The Principles and Practice of Clinical Geneticsp. 305
Dysmorphology and Clinical Teratologyp. 316
Bioethics and Medical Geneticsp. 321
Answers to Study Questionsp. 327
Glossaryp. 339
Indexp. 353
Table of Contents provided by Rittenhouse. All Rights Reserved.

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