Medical Genetics / Edition 2

Medical Genetics / Edition 2

Pub. Date:
Mosby, Incorporated


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Medical Genetics / Edition 2

An introduction for medical students, and graduate and undergraduate students in genetics. Explains basic molecular genetics, and covers chromosomal and single gene disorders, immunogenetics, cancer genetics, multifactorial disorders, and fetal therapy. Emphasizes the value of medical genetics as preventive medicine, and contains clinical commentaries on specific genetic diseases. Illustrated with b&w photos and two-color diagrams. An appendix includes bar codes to be scanned to access more illustrations from a laser disk, but the disk was not attached to this review copy.

Product Details

ISBN-13: 9780815146087
Publisher: Mosby, Incorporated
Publication date: 08/28/1998
Edition description: Older Edition
Pages: 372
Age Range: 17 Years

Table of Contents

1Background and History1
What is Medical Genetics?1
Why Is a Knowledge of Medical Genetics Important for Today's Health Care Practitioner?1
A Brief History1
Types of Genetic Diseases3
The Clinical Impact of Genetic Disease4
2Basic Cell Biology: Structure and Function of Genes and Chromosomes6
DNA, RNA, and Proteins: Heredity at the Molecular Level6
The Structure of Genes and the Genome17
The Cell Cycle22
3Genetic Variation: Its Origin and Detection29
Mutation: The Source of Genetic Variation29
Detection and Measurement of Genetic Variation41
4Autosomal Dominant and Recessive Inheritance57
Basic Concepts of Formal Genetics57
Autosomal Dominant Inheritance63
Autosomal Recessive Inheritance65
Factors That May Complicate Inheritance Patterns68
Consanguinity in Human Populations83
5Sex-Linked and Mitochondrial Inheritance88
X Inactivation88
Sex-Linked Inheritance90
Sex-Limited and Sex-Influenced Traits101
Mitochondrial Inheritance101
6Clinical Cytogenetics: The Chromosomal Basis of Human Disease107
Cytogenetic Technology and Nomenclature107
Abnormalities of Chromosome Number111
Chromosome Abnormalities and Pregnancy Loss120
Abnormalities of Chromosome Structure122
Chromosome Abnormalities and Clinical Phenotypes130
Cancer Cytogenetics132
Chromosome Instability Syndromes133
7Biochemical Genetics: Disorders of Metabolism136
Variants of Metabolism136
Defects of Metabolic Processes139
8Gene Mapping and Cloning160
Genetic Mapping161
Physical Mapping and Cloning174
The Immune Response: Basic Concepts193
Immune Response Proteins: Genetic Basis of Structure and Diversity198
The Major Histocompatibility Complex200
The ABO and Rh Blood Groups205
Immunodeficiency Diseases206
10Developmental Genetics209
Development: Basic Concepts209
Genetic Mediators of Development: The Molecular Toolbox210
Pattern Formation216
11Cancer Genetics228
Causes of Cancer229
Cancer Genes230
Major Classes of Cancer Genes232
Identification of Inherited Cancer Genes238
Molecular Basis of Cancer246
Is Genetic Inheritance Important in Common Cancers?246
12Multifactorial Inheritance and Common Diseases248
Principles of Multifactorial Inheritance248
Nature and Nurture: Disentangling the Effects of Genes and Environment255
The Genetics of Common Diseases258
13Genetic Testing and Gene Therapy278
Population Screening for Genetic Disease278
Molecular Tools for Screening and Diagnosis284
Prenatal Diagnosis of Genetic Disorders and Congenital Defects288
Fetal Treatment295
Gene Therapy296
14Clinical Genetics and Genetic Counseling305
The Principles and Practice of Clinical Genetics305
Dysmorphology and Clinical Teratology316
Bioethics and Medical Genetics321
Answers to Study Questions327

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